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Kathleen Ann Cooney

George Barth Geller Distinguished Professor of Medicine
Medicine, Medical Oncology
DUMC 3703, Duke North Hospital Suite 1102, Durham, NC 27710
40 Duke Medicine Circle, Davison Bldg, Suite 401, 401A, Durham, NC 27710

Selected Publications


Using gene and gene-set association tests to identify lethal prostate cancer genes.

Journal Article Prostate Cancer Prostatic Dis · August 17, 2024 BACKGROUND: Recent advances in the detection and treatment of prostate cancer (PCa) have reduced morbidity and mortality from this common cancer. Despite these improvements, PCa remains the second leading cause of cancer death in men in the United States. ... Full text Link to item Cite

Association of rare, recurrent nonsynonymous variants in the germline of prostate cancer patients of African ancestry.

Journal Article Prostate · April 2023 BACKGROUND: Although men of African ancestry (AA) have the highest mortality rate from prostate cancer (PCa), relatively little is known about the germline variants that are associated with PCa risk in AA men. The goal of this study is to systematically ev ... Full text Link to item Cite

Clinician interest in clinical decision support for PSA-based prostate cancer screening.

Journal Article Urol Oncol · March 2023 OBJECTIVE: To evaluate the interest of primary care clinicians in utilizing CDS for PSA screening. Evidence suggests that electronic clinical decision support (CDS) may decrease low-value prostate-specific antigen (PSA) testing. However, physician attitude ... Full text Link to item Cite

Initial outcomes and insights from a novel high-risk prostate cancer screening clinic.

Journal Article Prostate · February 2023 INTRODUCTION: Guidelines for germline testing in patients with prostate cancer (PCa) are identifying family members who require additional surveillance given pathogenic variants (PVs) that confer increased PCa risk. We established an interdisciplinary clin ... Full text Link to item Cite

Reliability of Ancestry-specific Prostate Cancer Genetic Risk Score in Four Racial and Ethnic Populations

Journal Article European Urology Open Science · November 1, 2022 Background: Reliability of prostate cancer (PCa) genetic risk score (GRS), that is, the concordance between its estimated risk and observed risk, is required for genetic testing at the individual level. Reliability data are lacking for non-European racial/ ... Full text Cite

Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.

Journal Article JCO Precis Oncol · November 2022 PURPOSE: Genetic studies of prostate cancer susceptibility have predominantly focused on non-Hispanic White men, despite the observation that Black men are more likely to develop prostate cancer and die from the disease. Therefore, we sought to identify ge ... Full text Link to item Cite

KLK3 germline mutation I179T complements DNA repair genes for predicting prostate cancer progression.

Journal Article Prostate Cancer Prostatic Dis · April 2022 BACKGROUND: Germline mutations in DNA repair genes and KLK3 have been associated with adverse prostate cancer (PCa) outcomes in separate studies but never jointly. The objective of this study is to simultaneously assess these two types of germline mutation ... Full text Link to item Cite

The HOXB13 variant X285K is associated with clinical significance and early age at diagnosis in African American prostate cancer patients.

Journal Article Br J Cancer · March 2022 BACKGROUND: Recently, a novel HOXB13 variant (X285K) was observed in men of African descent with prostate cancer (PCa) in Martinique. Little is known about this or other variants in HOXB13 which may play a role in PCa susceptibility in African-American (AA ... Full text Link to item Cite

Association of germline rare pathogenic mutations in guideline-recommended genes with prostate cancer progression: A meta-analysis.

Journal Article Prostate · January 2022 BACKGROUND: Germline mutations in several genes, mainly DNA repair genes, have been associated with prostate cancer (PCa) progression. However, primarily due to the rarity of mutations, statistical evidence for these associations is not consistently establ ... Full text Link to item Cite

A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.

Journal Article Lancet Oncol · November 2021 BACKGROUND: Lynch syndrome is a rare familial cancer syndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause predisposition to various cancers, predominantly colorectal and endometrial cancer. Data are emer ... Full text Link to item Cite

Observed evidence for guideline-recommended genes in predicting prostate cancer risk from a large population-based cohort.

Journal Article Prostate · September 2021 BACKGROUND: Germline testing for prostate cancer (PCa) is now recommended by the National Comprehensive Cancer Network. While multi-gene testing has been proposed, evidence for their association with PCa risk is not well established. METHODS: We tested ass ... Full text Link to item Cite

Prostate Cancer Predisposition.

Journal Article Urol Clin North Am · August 2021 The identification and characterization of alterations in prostate cancer (PCa)-predisposing genes can help to inform screening strategies in undiagnosed men and treatment options in men in both the clinically localized and in the metastatic setting. This ... Full text Link to item Cite

Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer.

Journal Article Eur Urol · March 2021 BACKGROUND: Family history of prostate cancer (PCa) is a well-known risk factor, and both common and rare genetic variants are associated with the disease. OBJECTIVE: To detect new genetic variants associated with PCa, capitalizing on the role of family hi ... Full text Link to item Cite

Performance of Three Inherited Risk Measures for Predicting Prostate Cancer Incidence and Mortality: A Population-based Prospective Analysis.

Journal Article Eur Urol · March 2021 BACKGROUND: Single nucleotide polymorphism-based genetic risk score (GRS) has been developed and validated for prostate cancer (PCa) risk assessment. As GRS is population standardized, its value can be interpreted as a relative risk to the general populati ... Full text Link to item Cite

Germline HOXB13 G84E mutation carriers and risk to twenty common types of cancer: results from the UK Biobank.

Journal Article Br J Cancer · October 2020 Germline HOXB13 G84E mutation has been consistently associated with prostate cancer (PCa) risk, but its association with other cancers is controversial. We systematically tested its association with the 20 most common cancer types in subjects from the UK B ... Full text Link to item Cite

A Germline Variant at 8q24 Contributes to Familial Clustering of Prostate Cancer in Men of African Ancestry.

Journal Article Eur Urol · September 2020 Although men of African ancestry have a high risk of prostate cancer (PCa), no genes or mutations have been identified that contribute to familial clustering of PCa in this population. We investigated whether the African ancestry-specific PCa risk variant ... Full text Link to item Cite

Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.

Journal Article J Clin Oncol · August 20, 2020 PURPOSE: Germline testing (GT) is a central feature of prostate cancer (PCA) treatment, management, and hereditary cancer assessment. Critical needs include optimized multigene testing strategies that incorporate evolving genetic data, consistency in GT in ... Full text Link to item Cite

Efficacy and Effect of Cabozantinib on Bone Metastases in Treatment-naive Castration-resistant Prostate Cancer.

Journal Article Clin Genitourin Cancer · August 2020 BACKGROUND: Cabozantinib is active in advanced prostate cancer with improvement on bone scans in men on phase II trials. This trial evaluated the efficacy and changes in bone lesions in men with metastatic castration-resistant prostate cancer (mCRPC) treat ... Full text Link to item Cite

Factors associated with appropriate and low-value PSA testing.

Journal Article Cancer Epidemiol · June 2020 BACKGROUND: Prostate-specific antigen (PSA) testing for early detection of prostate cancer is low-value when it is not indicated by guidelines and the harms outweigh the benefits. In this retrospective cohort study, we identify provider and patient factors ... Full text Link to item Cite

Risk of Prostate Cancer Associated With Familial and Hereditary Cancer Syndromes.

Journal Article J Clin Oncol · June 1, 2020 PURPOSE: Recently developed clinical guidelines suggest that men in families with specific cancer syndromes, such as hereditary breast and ovarian cancer (HBOC), consider genetic testing, especially in the setting of aggressive disease. However, although a ... Full text Link to item Cite

Rare Germline Pathogenic Mutations of DNA Repair Genes Are Most Strongly Associated with Grade Group 5 Prostate Cancer.

Journal Article Eur Urol Oncol · April 2020 BACKGROUND: Rare germline mutations in several genes, primarily DNA repair genes, have been proposed to predict worse prognosis of prostate cancer (PCa). OBJECTIVE: To compare the frequency of germline pathogenic mutations in commonly assayed PCa genes bet ... Full text Link to item Cite

What men want: Qualitative analysis of what men with prostate cancer (PCa) want to learn regarding genetic referral, counseling, and testing.

Journal Article Prostate · April 2020 BACKGROUND: Guidelines have changed recently to include genetic counseling (GC) and/or genetic testing (GT) for all men with aggressive prostate cancer (PCa). This study aimed to identify what information men with PCa desire before and from GC. METHODS: Fo ... Full text Link to item Cite

Provider Practice Competition and Adoption of Medicare's Oncology Care Model.

Journal Article Med Care · February 2020 BACKGROUND: There is a concern that the Oncology Care Model (OCM), a voluntary bundled payment program, may incentivize mergers and acquisitions among physician practices leading to reduced competition and price increases. These concerns are heightened if ... Full text Link to item Cite

Updated insights into genetic contribution to prostate cancer predisposition: focus on HOXB13.

Journal Article Can J Urol · October 2019 This presentation for the Philadelphia Prostate Cancer Consensus 2019 will focus on recent findings regarding the role of HOXB13 as a prostate cancer susceptibility gene. Factors affecting the frequency of HOXB13 mutations in different prostate cancer popu ... Link to item Cite

DNA repair genes: contributions to prostate cancer predisposition and aggressiveness.

Journal Article Can J Urol · October 2019 Germline pathogenic mutations in DNA repair genes have been linked to prostate cancer risk and aggressiveness. This observation was facilitated by tumor sequencing of men with advanced prostate cancer and has important implications for clinical management. ... Link to item Cite

Racial differences in patterns of treatment among men diagnosed with de novo advanced prostate cancer: A SEER-Medicare investigation.

Journal Article Cancer Med · June 2019 PURPOSE: Approximately 5% of men were initially diagnosed with (also referred to as de novo) advanced stage prostate cancer and experience far poorer survival compared to men diagnosed with local or regionally advanced disease. Given the number of new ther ... Full text Link to item Cite

Prevalence of pathogenic germline variants in DNA repair by race, age, and ethnicity in men with prostate cancer.

Conference Journal of Clinical Oncology · May 20, 2019 5062 Background: Patients with advanced prostate cancer (PC) frequently harbor pathogenic or likely pathogenic (P/LP) germline variants (GVs) in mismatch repair (MMR) and homologous repair (HR) enzymes which have clinical and tre ... Full text Cite

Mitochondrial alterations may underlie race-specific differences in cancer risk and outcome.

Journal Article J Clin Invest · May 6, 2019 African Americans are at increased risk of cancer and associated mortalities compared with European American populations. Socioeconomic, cultural, and biological factors have been implicated in this discrepancy. In this issue of the JCI, Piyarathna et al. ... Full text Link to item Cite

Pathogenic germline DNA repair gene and HOXB13 mutations in men with metastatic prostate cancer

Journal Article JCO Precision Oncology · January 1, 2019 PURPOSE Germline mutations in DNA repair (DR) genes and susceptibility genes CDKN2A and HOXB13 have previously been associated with prostate cancer (PC) incidence and/or progression. However, the role and prevalence of this class of mutations in metastatic ... Full text Cite

Germline mutations in PPFIBP2 are associated with lethal prostate cancer.

Journal Article Prostate · December 2018 BACKGROUND: Few genes have germline mutations which predispose men to more aggressive prostate cancer (PCa). This study evaluated the contribution of germline loss of function (LOF) variants in PPFIBP2 to risk of lethal PCa. METHODS: A case-case study of 1 ... Full text Link to item Cite

Defining low-value PSA testing in a large retrospective cohort: Finding common ground between discordant guidelines.

Journal Article Cancer Epidemiol · October 2018 BACKGROUND: Reports of low-value prostate-specific antigen (PSA) testing (testing in which the harms outweigh the benefits) generally employ population level data sources. While such results may be generalizable, they often lack the detail necessary to und ... Full text Link to item Cite

Prevalence of clinically actionable germline pathogenic variants (PVs) in advanced prostate cancer (aPC)

Journal Article Annals of oncology : official journal of the European Society for Medical Oncology · October 1, 2018 Full text Cite

A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer.

Journal Article Prostate · June 2018 BACKGROUND: Germline mutations in CHEK2 have been associated with prostate cancer (PCa) risk. Our objective is to examine whether germline pathogenic CHEK2 mutations can differentiate risk of lethal from indolent PCa. METHODS: A case-case study of 703 leth ... Full text Link to item Cite

Targeting Androgen Receptor and DNA Repair in Metastatic Castration-Resistant Prostate Cancer: Results From NCI 9012.

Journal Article J Clin Oncol · April 1, 2018 Purpose To determine whether cotargeting poly (ADP-ribose) polymerase-1 plus androgen receptor is superior to androgen receptor inhibition in metastatic castration-resistant prostate cancer (mCRPC) and whether ETS fusions predict response. Patients and Met ... Full text Link to item Cite

Rare germline mutations in African American men diagnosed with early-onset prostate cancer.

Journal Article Prostate · April 2018 BACKGROUND: African Americans have both a higher incidence of prostate cancer and greater disease-specific mortality compared with non-Hispanic whites. Historically, the investigation of the contribution of rare genetic variants to prostate cancer in Afric ... Full text Link to item Cite

Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.

Journal Article J Clin Oncol · February 1, 2018 Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era address ... Full text Link to item Cite

Genetic factors influencing prostate cancer risk in Norwegian men.

Journal Article Prostate · February 2018 Norway has one of the highest rates of death due to prostate cancer (PCa) in the world. To assess the contribution of both common and rare single nucleotide variants (SNPs) to the prostate cancer burden in Norway, we assessed the frequency of the establish ... Full text Link to item Cite

Low-Cost Intervention to Increase Influenza Vaccination Rate at a Comprehensive Cancer Center.

Journal Article J Cancer Educ · December 2017 Influenza morbidity and mortality can be severe and costly. Vaccination rates remain suboptimal in cancer patients due to provider- and patient-related factors. The objective of this study was to evaluate whether low-cost provider- and patient-focused inte ... Full text Link to item Cite

Germline genetic variants in men with prostate cancer and one or more additional cancers.

Journal Article Cancer · October 15, 2017 BACKGROUND: Prostate cancer has a significant heritable component, and rare deleterious germline variants in certain genes can increase the risk of the disease. The aim of the current study was to describe the prevalence of pathogenic germline variants in ... Full text Link to item Cite

gsSKAT: Rapid gene set analysis and multiple testing correction for rare-variant association studies using weighted linear kernels.

Journal Article Genet Epidemiol · May 2017 Next-generation sequencing technologies have afforded unprecedented characterization of low-frequency and rare genetic variation. Due to low power for single-variant testing, aggregative methods are commonly used to combine observed rare variation within a ... Full text Link to item Cite

Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.

Journal Article Eur Urol · May 2017 BACKGROUND: Germline mutations in BRCA1/2 and ATM have been associated with prostate cancer (PCa) risk. OBJECTIVE: To directly assess whether germline mutations in these three genes distinguish lethal from indolent PCa and whether they confer any effect on ... Full text Link to item Cite

Editorial Comment.

Journal Article J Urol · January 2017 Full text Link to item Cite

Inherited Predisposition to Prostate Cancer: From Gene Discovery to Clinical Impact.

Journal Article Trans Am Clin Climatol Assoc · 2017 Family history of prostate cancer is one of the three most important risk factors for the disease in addition to age and race. Yet despite the recognition of this significant heritable component, it has been challenging to identify the genes associated wit ... Link to item Cite

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.

Journal Article Am J Hum Genet · October 6, 2016 The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and limited functional data. Improved methods for predicting the pathogenicity of rare coding variants ... Full text Link to item Cite

Advances in inherited cancers: Introduction.

Journal Article Semin Oncol · October 2016 Full text Link to item Cite

Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies.

Journal Article Genet Epidemiol · September 2016 Rare variants (RVs) have been shown to be significant contributors to complex disease risk. By definition, these variants have very low minor allele frequencies and traditional single-marker methods for statistical analysis are underpowered for typical seq ... Full text Link to item Cite

Limitations of Prostate-specific Antigen Testing After a Prostate Cancer Diagnosis.

Journal Article Eur Urol · August 2016 Prostate-specific antigen (PSA) is frequently used in isolation to guide treatment decisions in men with recurrent prostate cancer, a practice discouraged by prostate cancer working groups and guidelines. Instead, PSA should be used with imaging and other ... Full text Link to item Cite

Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21.

Journal Article Hum Genet · August 2016 Previous genome-wide association studies (GWAS) of prostate cancer risk focused on cases unselected for family history and have reported over 100 significant associations. The International Consortium for Prostate Cancer Genetics (ICPCG) has now performed ... Full text Link to item Cite

Assessing the Cumulative Contribution of New and Established Common Genetic Risk Factors to Early-Onset Prostate Cancer.

Journal Article Cancer Epidemiol Biomarkers Prev · May 2016 BACKGROUND: We assessed the evidence for association between 23 recently reported prostate cancer variants and early-onset prostate cancer and the aggregate value of 63 prostate cancer variants for predicting early-onset disease using 931 unrelated men dia ... Full text Link to item Cite

Abstract B40: Rare variant discovery in known cancer genes from whole-exome sequencingof African American hereditary prostate cancer families

Conference Cancer Epidemiology, Biomarkers & Prevention · March 1, 2016 AbstractAfrican American Hereditary Prostate Cancer Study (AAHPC) was developed as a national collaboration to explore the role of genetics in the causation of hereditary prostate cancer (HPC) in African Ame ... Full text Cite

Evidence for association of SNPs in ABCB1 and CBR3, but not RAC2, NCF4, SLC28A3 or TOP2B, with chronic cardiotoxicity in a cohort of breast cancer patients treated with anthracyclines.

Journal Article Pharmacogenomics · February 2016 AIMS: Validation of associations for SNPs in RAC2, NCF4 and SLC28A3, identification of a novel association with a TOP2B SNP and screening 23 SNPs putatively relevant to anthracycline-induced cardiotoxicity. PATIENTS & METHODS: A total of 166 breast cancer ... Full text Link to item Cite

A phase 2 trial of salvage radiation and concurrent weekly docetaxel after a rising prostate-specific antigen level after radical prostatectomy.

Journal Article Adv Radiat Oncol · 2016 PURPOSE/OBJECTIVES: We sought to assess the utility of docetaxel administered concurrently with salvage radiation therapy (SRT) following postprostatectomy biochemical failure (BF). METHODS AND MATERIALS: Men with postprostatectomy BF were accrued on a sin ... Full text Link to item Cite

HOXB13 and other high penetrant genes for prostate cancer.

Journal Article Asian J Androl · 2016 Cancer initiation and progression is the result of an accumulation of mutations in key tumor suppressor genes, mismatch repair genes, or oncogenes, which impact cancer cell growth, death, and differentiation. Mutations occurring in cancer tissue are termed ... Full text Link to item Cite

Comprehensive serial molecular profiling of an "N of 1" exceptional non-responder with metastatic prostate cancer progressing to small cell carcinoma on treatment.

Journal Article J Hematol Oncol · October 6, 2015 IMPORTANCE: Small cell carcinoma/neuroendocrine prostate cancer (NePC) is a lethal, poorly understood prostate cancer (PCa) subtype. Controversy exists about the origin of NePC in this setting. OBJECTIVE: To molecularly profile archived biopsy specimens fr ... Full text Link to item Cite

The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies.

Journal Article Cancer Epidemiol Biomarkers Prev · September 2015 BACKGROUND: A rare nonconservative substitution (G84E) in the HOXB13 gene has been shown to be associated with risk of prostate cancer. DNA samples from male patients included in the Mayo Clinic Biobank (MCB) were genotyped to determine the frequency of th ... Full text Link to item Cite

Abstract 1585: Application of a graphene oxide based microfluidic device (GO Chip) to prostate cancer circulating tumor cell capture and analysis

Conference Cancer Research · August 1, 2015 AbstractOne in seven men in the United States will be diagnosed with prostate cancer in his life time, in part because of the prevalence of screening for serum levels of prostate specific antigen (PSA). Howe ... Full text Cite

Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci.

Journal Article Cancer Epidemiol Biomarkers Prev · July 2015 BACKGROUND: Genome-wide association studies have identified multiple genetic variants associated with prostate cancer risk which explain a substantial proportion of familial relative risk. These variants can be used to stratify individuals by their risk of ... Full text Link to item Cite

Doxorubicin-induced cardiac dysfunction in unselected patients with a history of early-stage breast cancer.

Journal Article Breast Cancer Res Treat · July 2015 Cardiomyopathy is a known complication of anthracycline-based adjuvant chemotherapy and is more commonly reported in population-based studies of breast cancer survivors than in clinical trials. This study prospectively evaluated the prevalence of elevated ... Full text Link to item Cite

Integrative molecular profiling of routine clinical prostate cancer specimens.

Journal Article Ann Oncol · June 2015 BACKGROUND: Comprehensive molecular profiling led to the recognition of multiple prostate cancer (PCa) molecular subtypes and driving alterations, but translating these findings to clinical practice is challenging. PATIENTS AND METHODS: We developed a form ... Full text Link to item Cite

Integrative clinical genomics of advanced prostate cancer.

Journal Article Cell · May 21, 2015 Toward development of a precision medicine framework for metastatic, castration-resistant prostate cancer (mCRPC), we established a multi-institutional clinical sequencing infrastructure to conduct prospective whole-exome and transcriptome sequencing of bo ... Full text Link to item Cite

Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 cases.

Journal Article Hum Genet · April 2015 Genetic studies have identified single nucleotide polymorphisms (SNPs) associated with the risk of prostate cancer (PC). It remains unclear whether such genetic variants are associated with disease aggressiveness. The NCI-SPORE Genetics Working Group retro ... Full text Link to item Cite

Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.

Journal Article Neoplasia · April 2015 Next-generation sequencing (NGS) has enabled genome-wide personalized oncology efforts at centers and companies with the specialty expertise and infrastructure required to identify and prioritize actionable variants. Such approaches are not scalable, preve ... Full text Link to item Cite

Mutational landscape of candidate genes in familial prostate cancer.

Journal Article Prostate · October 2014 BACKGROUND: Family history is a major risk factor for prostate cancer (PCa), suggesting a genetic component to the disease. However, traditional linkage and association studies have failed to fully elucidate the underlying genetic basis of familial PCa. ME ... Full text Link to item Cite

Risk of second primary tumors in men diagnosed with prostate cancer: a population-based cohort study.

Journal Article Cancer · September 1, 2014 BACKGROUND: The survival of men diagnosed with prostate cancer has improved over time, and the current 10-year relative survival rate is 99.7%. The long survival of patients with this common cancer raises questions about the risk of a second primary cancer ... Full text Link to item Cite

Statin use and the risk of recurrence after radical prostatectomy in a cohort of men with inherited and/or early-onset forms of prostate cancer.

Journal Article Urology · June 2014 OBJECTIVE: To investigate whether the use of statin medications is associated with a reduced risk of biochemical recurrence (BCR) in men with inherited and/or early-onset prostate cancer who have been treated with radical retropubic prostatectomy (RRP). ME ... Full text Link to item Cite

Prostate cancer in young men: an important clinical entity.

Journal Article Nat Rev Urol · June 2014 Prostate cancer is considered a disease of older men (aged >65 years), but today over 10% of new diagnoses in the USA occur in young men aged ≤55 years. Early-onset prostate cancer, that is prostate cancer diagnosed at age ≤55 years, differs from prostate ... Full text Link to item Cite

Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer.

Journal Article Prostate · June 2014 BACKGROUND: Family history of prostate cancer is a well-recognized risk factor. Previous linkage studies have reported a putative prostate cancer susceptibility locus at chromosome 17q21-22. SPOP (Speckle-type POZ protein) maps to the 17q21-22 candidate li ... Full text Link to item Cite

HOXB13 G84E-related familial prostate cancers: a clinical, histologic, and molecular survey.

Journal Article Am J Surg Pathol · May 2014 Recent genetic epidemiologic studies identified a germline mutation in the homeobox transcription factor, HOXB13 G84E, which is associated with markedly increased risk for prostate cancer, particularly early-onset hereditary prostate cancer. The histomorph ... Full text Link to item Cite

Prevalence of the HOXB13 G84E prostate cancer risk allele in men treated with radical prostatectomy.

Journal Article BJU Int · May 2014 OBJECTIVE: To determine the prevalence and clinical correlates of the G84E mutation in the homeobox transcription factor, or HOXB13, gene using DNA samples from 9559 men with prostate cancer undergoing radical prostatectomy. PATIENTS AND METHODS: DNA sampl ... Full text Link to item Cite

Genome-wide association scan for variants associated with early-onset prostate cancer

Journal Article PLoS ONE · April 16, 2014 Prostate cancer is the most common non-skin cancer and the second leading cause of cancer related mortality for men in the United States. There is strong empirical and epidemiological evidence supporting a stronger role of genetics in earlyonset prostate c ... Full text Cite

Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease.

Journal Article Hum Genet · March 2014 Previous GWAS studies have reported significant associations between various common SNPs and prostate cancer risk using cases unselected for family history. How these variants influence risk in familial prostate cancer is not well studied. Here, we analyze ... Full text Link to item Cite

Genome-wide association scan for variants associated with early-onset prostate cancer.

Journal Article PLoS One · 2014 Prostate cancer is the most common non-skin cancer and the second leading cause of cancer related mortality for men in the United States. There is strong empirical and epidemiological evidence supporting a stronger role of genetics in early-onset prostate ... Full text Link to item Cite

Elevated risk of prostate cancer among men with Lynch syndrome.

Journal Article J Clin Oncol · May 10, 2013 PURPOSE: Prostate cancer has been described as a component tumor of Lynch syndrome (LS), with tumors obtained from mutation carriers demonstrating the DNA mismatch repair deficiency phenotype. Previous studies quantifying prostate cancer risk in LS have pr ... Full text Link to item Cite

Abstract 2564: Identification of a novel SPOP missense mutation from targeted next-generation sequencing of men with chromosome 17-q linkage.

Conference Cancer Research · April 15, 2013 AbstractSpeckle-type POZ protein (SPOP), located on chromosome 17q21, encodes the substrate-binding subunit of a Cullin-based E3 ubiquitin ligase gene. The SPOP gene has been shown to be one of the most comm ... Full text Cite

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.

Journal Article Nat Genet · April 2013 Prostate cancer is the most frequently diagnosed cancer in males in developed countries. To identify common prostate cancer susceptibility alleles, we genotyped 211,155 SNPs on a custom Illumina array (iCOGS) in blood DNA from 25,074 prostate cancer cases ... Full text Link to item Cite

Testing for the recurrent HOXB13 G84E germline mutation in men with clinical indications for prostate biopsy.

Journal Article J Urol · March 2013 PURPOSE: The G84E variant of HOXB13 was recently found to be associated with a significantly increased risk of prostate cancer in a case control study. We estimated the prevalence of this mutation in a clinical population of men at risk for prostate cancer ... Full text Link to item Cite

Hypertension, obesity and prostate cancer biochemical recurrence after radical prostatectomy.

Journal Article Prostate Cancer Prostatic Dis · March 2013 BACKGROUND: The metabolic syndrome (MetS) comprises a constellation of risk factors associated with an increased risk for cardiovascular disease. Components of MetS have emerged as putative risk factors for prostate carcinoma. In this study, we examine the ... Full text Link to item Cite

A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease.

Journal Article Hum Mol Genet · January 15, 2013 Genome-wide association studies (GWAS) have identified multiple common genetic variants associated with an increased risk of prostate cancer (PrCa), but these explain less than one-third of the heritability. To identify further susceptibility alleles, we c ... Full text Link to item Cite

HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG).

Journal Article Hum Genet · January 2013 Prostate cancer has a strong familial component but uncovering the molecular basis for inherited susceptibility for this disease has been challenging. Recently, a rare, recurrent mutation (G84E) in HOXB13 was reported to be associated with prostate cancer ... Full text Link to item Cite

Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.

Journal Article Fam Cancer · December 2012 Nibrin (NBN), located on chromosome 8q21 is a gene involved in DNA double-strand break repair that has been implicated in the rare autosomal recessive chromosomal instability syndrome known as Nijmegen Breakage Syndrome (NBS). NBS is characterized by speci ... Full text Link to item Cite

Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG).

Journal Article Hum Genet · July 2012 Multiple prostate cancer (PCa) risk-related loci have been discovered by genome-wide association studies (GWAS) based on case-control designs. However, GWAS findings may be confounded by population stratification if cases and controls are inadvertently dra ... Full text Link to item Cite

Genetic variation in glutathione S-transferase omega-1, arsenic methyltransferase and methylene-tetrahydrofolate reductase, arsenic exposure and bladder cancer: a case-control study.

Journal Article Environ Health · June 29, 2012 BACKGROUND: Ingestion of groundwater with high concentrations of inorganic arsenic has been linked to adverse health outcomes, including bladder cancer, however studies have not consistently observed any elevation in risk at lower concentrations. Genetic v ... Full text Link to item Cite

Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families.

Journal Article BMC Med Genet · June 19, 2012 BACKGROUND: Genetic variants are likely to contribute to a portion of prostate cancer risk. Full elucidation of the genetic etiology of prostate cancer is difficult because of incomplete penetrance and genetic and phenotypic heterogeneity. Current evidence ... Full text Link to item Cite

Prevalence and correlates of vitamin and supplement usage among men with a family history of prostate cancer.

Journal Article Integr Cancer Ther · June 2012 HYPOTHESES: Men who have a brother with prostate cancer have a 2-fold increased risk of being diagnosed with prostate cancer. Strategies employed by these men to reduce prostate cancer risk are not well understood. Preliminary studies have shown that men w ... Full text Link to item Cite

Abstract 1642: Rare missense variants in MAP3K14 and ARHGAP27 in men with hereditary prostate cancer

Conference Cancer Research · April 15, 2012 AbstractBackground: Linkage studies have consistently identified the 17q21-22 chromosomal region to be important in hereditary prostate cancer, although no known causal variant has yet been identified. Three ... Full text Cite

Phase II study of cilengitide (EMD 121974, NSC 707544) in patients with non-metastatic castration resistant prostate cancer, NCI-6735. A study by the DOD/PCF prostate cancer clinical trials consortium.

Journal Article Invest New Drugs · April 2012 BACKGROUND: Integrins mediate invasion and angiogenesis in prostate cancer bone metastases. We conducted a phase II study of cilengitide, a selective antagonist of α(v)β(3) and α(v)β(5) integrins, in non-metastatic castration resistant prostate cancer with ... Full text Link to item Cite

Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG.

Journal Article Prostate · March 2012 BACKGROUND: In spite of intensive efforts, understanding of the genetic aspects of familial prostate cancer (PC) remains largely incomplete. In a previous microsatellite-based linkage scan of 1,233 PC families, we identified suggestive evidence for linkage ... Full text Link to item Cite

Early onset prostate cancer has a significant genetic component.

Journal Article Prostate · February 1, 2012 BACKGROUND: Prostate cancer (PCa) affects more than 190,000 men each year with ∼10% of men diagnosed at ≤55 years, that is, early onset (EO) PCa. Based on historical findings for other cancers, EO PCa likely reflects a stronger underlying genetic etiology. ... Full text Link to item Cite

Germline mutations in HOXB13 and prostate-cancer risk.

Journal Article N Engl J Med · January 12, 2012 BACKGROUND: Family history is a significant risk factor for prostate cancer, although the molecular basis for this association is poorly understood. Linkage studies have implicated chromosome 17q21-22 as a possible location of a prostate-cancer susceptibil ... Full text Link to item Cite

Cilengitide (EMD 121974, NSC 707544) in asymptomatic metastatic castration resistant prostate cancer patients: a randomized phase II trial by the prostate cancer clinical trials consortium.

Journal Article Invest New Drugs · December 2011 BACKGROUND: Integrins are involved in prostate cancer metastasis by regulating cell adhesion, migration, invasion, motility, angiogenesis and bone metabolism. We evaluated the efficacy of two dose levels of cilengitide in patients (pts) with castrate resis ... Full text Link to item Cite

Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.

Journal Article Nat Genet · July 10, 2011 Prostate cancer (PrCa) is the most frequently diagnosed male cancer in developed countries. We conducted a multi-stage genome-wide association study for PrCa and previously reported the results of the first two stages, which identified 16 PrCa susceptibili ... Full text Link to item Cite

Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21.

Journal Article Nat Genet · June 2011 In search of common risk alleles for prostate cancer that could contribute to high rates of the disease in men of African ancestry, we conducted a genome-wide association study, with 1,047,986 SNP markers examined in 3,425 African-Americans with prostate c ... Full text Link to item Cite

National Cancer Institute Prostate Cancer Genetics Workshop.

Conference Cancer Res · May 15, 2011 Compelling evidence supports a genetic component to prostate cancer susceptibility and aggressiveness. Recent genome-wide association studies have identified more than 30 single-nucleotide polymorphisms associated with prostate cancer susceptibility. It re ... Full text Link to item Cite

Abstract 5569: The association between statin use and risk of biochemical recurrence in men treated with radical prostatectomy in a cohort of men with inherited forms of prostate cancer

Conference Cancer Research · April 15, 2011 AbstractBackground: Evidence exists that statin medications are associated with decreased risk of advanced prostate cancer. The risk factors for prostate cancer are increasing age, African-American race and ... Full text Cite

Hereditary prostate cancer as a feature of Lynch syndrome.

Journal Article Fam Cancer · March 2011 Lynch Syndrome is an autosomal dominant condition characterized by early onset colorectal cancer (CRC) and is associated with cancers of the gastrointestinal and reproductive tracts. Germline mutations in DNA mismatch repair (MMR) genes have been causally ... Full text Link to item Cite

Evidence for an association between prostate cancer and chromosome 8q24 and 10q11 genetic variants in African American men: the Flint Men's Health Study.

Journal Article Prostate · February 15, 2011 BACKGROUND: Prostate cancer is the most commonly diagnosed non-skin cancer in men in the United States and the second leading cause of cancer-related mortality. African American men have substantially increased risk of both being diagnosed and dying from t ... Full text Link to item Cite

Validation of genome-wide prostate cancer associations in men of African descent.

Journal Article Cancer Epidemiol Biomarkers Prev · January 2011 BACKGROUND: Genome-wide association studies (GWAS) have identified numerous prostate cancer susceptibility alleles, but these loci have been identified primarily in men of European descent. There is limited information about the role of these loci in men o ... Full text Link to item Cite

Genetic variation in adiponectin (ADIPOQ) and the type 1 receptor (ADIPOR1), obesity and prostate cancer in African Americans.

Journal Article Prostate Cancer Prostatic Dis · December 2010 Adiponectin is a protein derived from adipose tissue suspected to have an important role in prostate carcinogenesis. Variants in the adiponectin gene (ADIPOQ) and its type 1 receptor (ADIPOR1) have been recently linked to risk of both breast and colorectal ... Full text Link to item Cite

Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses.

Journal Article Prostate · May 15, 2010 BACKGROUND: Prostate cancer (PC) is generally believed to have a strong inherited component, but the search for susceptibility genes has been hindered by the effects of genetic heterogeneity. The recently developed sumLINK and sumLOD statistics are powerfu ... Full text Link to item Cite

Absence of truncating BRIP1 mutations in chromosome 17q-linked hereditary prostate cancer families.

Journal Article Br J Cancer · December 15, 2009 BACKGROUND: In a genome-wide scan (GWS) of 175 multiplex prostate cancer (PCa) families from the University of Michigan Prostate Cancer Genetics Project (PCGP), linkage was observed to markers on chromosome 17q21-24, a region that includes two breast cance ... Full text Link to item Cite

Bayesian inference for the stereotype regression model: Application to a case-control study of prostate cancer.

Journal Article Stat Med · November 10, 2009 The stereotype regression model for categorical outcomes, proposed by Anderson (J. Roy. Statist. Soc. B. 1984; 46:1-30) is nested between the baseline-category logits and adjacent category logits model with proportional odds structure. The stereotype model ... Full text Link to item Cite

Somatic single hits inactivate the X-linked tumor suppressor FOXP3 in the prostate.

Journal Article Cancer Cell · October 6, 2009 Despite clear epidemiological and genetic evidence for X-linked prostate cancer risk, all prostate cancer genes identified are autosomal. Here, we report somatic inactivating mutations and deletion of the X-linked FOXP3 gene residing at Xp11.23 in human pr ... Full text Link to item Cite

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.

Journal Article Nat Genet · October 2009 Prostate cancer (PrCa) is the most frequently diagnosed cancer in males in developed countries. To identify common PrCa susceptibility alleles, we previously conducted a genome-wide association study in which 541,129 SNPs were genotyped in 1,854 PrCa cases ... Full text Link to item Cite

Editorial Comment

Journal Article Journal of Urology · July 1, 2009 Full text Cite

Sequence variation in the mitochondrial gene cytochrome c oxidase subunit I and prostate cancer in African American men.

Journal Article Prostate · June 15, 2009 BACKGROUND: Previous studies have found associations between mitochondrial DNA (mtDNA) mutations and several cancer types. Recently, we found that mutations in the mtDNA gene cytochrome c oxidase subunit 1 (COI) were both linked to and associated with pros ... Full text Link to item Cite

Genome-wide linkage scan for prostate cancer susceptibility from the University of Michigan Prostate Cancer Genetics Project: suggestive evidence for linkage at 16q23.

Journal Article Prostate · March 1, 2009 BACKGROUND: Prostate cancer linkage studies have been used to localize rare and presumably highly penetrant cancer susceptibility genes. Underlying genetic heterogeneity, as well as the high sporadic background of the disease, has resulted in many signals ... Full text Link to item Cite

Semiparametric Bayesian modeling of random genetic effects in family-based association studies.

Journal Article Stat Med · January 15, 2009 We consider the inference problem of estimating covariate and genetic effects in a family-based case-control study where families are ascertained on the basis of the number of cases within the family. However, our interest lies not only in estimating the f ... Full text Link to item Cite

Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer.

Journal Article Cancer Lett · October 18, 2008 Checkpoint kinase 2 (CHEK2) is a protein involved in arresting cell cycle in response to DNA damage. To investigate whether it plays an important role in the development of prostate cancer (PRCA) in the Ashkenazi Jewish (AJ) population, we sequenced CHEK2 ... Full text Link to item Cite

Chromosome 17q12 variants contribute to risk of early-onset prostate cancer.

Journal Article Cancer Res · August 15, 2008 In a recent genome-wide association study by Gudmundsson and colleagues, two prostate cancer susceptibility loci were identified on chromosome 17q. The first locus, at 17q12, was distinguished by two intronic single-nucleotide polymorphisms (SNPs) in the T ... Full text Link to item Cite

Chromosome 8q24 markers: risk of early-onset and familial prostate cancer.

Journal Article Int J Cancer · June 15, 2008 Recent admixture mapping and linkage/association studies have implicated an approximately 1 Mb region on chromosome 8q24 in prostate cancer susceptibility. In a subsequent follow-up investigation, Haiman et al. (Nat Genet 2007;39:638-44) observed significa ... Full text Link to item Cite

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer.

Journal Article Prostate · May 1, 2008 BACKGROUND: The genetic basis of susceptibility to prostate cancer (PRCA) remains elusive. Mutations in BRCA2 have been associated with increased prostate cancer risk and account for around 2% of young onset (<56 years) prostate cancer cases. PALB2 is a re ... Full text Link to item Cite

X-linked inhibitor of apoptosis deficiency in the TRAMP mouse prostate cancer model.

Journal Article Cell Death Differ · May 2008 Deregulation of apoptotic pathways plays a central role in cancer pathogenesis. X-linked inhibitor of apoptosis protein (XIAP), is an antiapoptotic molecule, whose elevated expression has been observed in tumor specimens from patients with prostate carcino ... Full text Link to item Cite

Body composition and serum prostate-specific antigen: review and findings from Flint Men's Health Study.

Journal Article Urology · April 2008 Recent studies have suggested that obesity is associated with lower serum prostate-specific antigen levels, perhaps influencing the recommendation for prostate biopsy and potentially explaining part of the observed poorer prognosis among obese men. African ... Full text Link to item Cite

Genetic polymorphisms in CYP17, CYP3A4, CYP19A1, SRD5A2, IGF-1, and IGFBP-3 and prostate cancer risk in African-American men: the Flint Men's Health Study.

Journal Article Prostate · February 15, 2008 BACKGROUND: Association studies have examined the significance of several candidate genes based on biological pathways relevant to prostate carcinogenesis, including both the androgen and insulin-like growth factor pathways. Clinical and epidemiologic evid ... Full text Link to item Cite

The androgen receptor CAG and GGN repeat polymorphisms and prostate cancer susceptibility in African-American men: results from the Flint Men's Health Study.

Journal Article J Hum Genet · 2008 Repeat lengths of the CAG and GGN microsatellites in exon 1 of the androgen receptor (AR) gene have been hypothesized to be associated with prostate cancer risk. In vitro studies have showed an inverse association between AR CAG and GGN repeat length and a ... Full text Link to item Cite

EZH2 regulates the transcription of estrogen-responsive genes through association with REA, an estrogen receptor corepressor.

Journal Article Breast Cancer Res Treat · January 2008 Enhancer of zeste homolog 2 (EZH2) is a histone methyltransferase polycomb group (PcG) protein, which has been implicated in the process of cellular differentiation and cancer progression for both breast and prostate cancer. Although transcriptional repres ... Full text Link to item Cite

Sequence variation in alpha-methylacyl-CoA racemase and risk of early-onset and familial prostate cancer.

Journal Article Prostate · October 1, 2007 BACKGROUND: Expression of the alpha-methylacyl-CoA racemase (AMACR) gene has been established as a sensitive and specific biomarker for the diagnosis of prostate cancer. An initial study has also suggested that the risk of familial (but not sporadic) prost ... Full text Link to item Cite

Common variation in the BRCA1 gene and prostate cancer risk.

Journal Article Cancer Epidemiol Biomarkers Prev · July 2007 Rare inactivating mutations in the BRCA1 gene seem to play a limited role in prostate cancer. To our knowledge, however, no study has comprehensively assessed the role of other BRCA1 sequence variations (e.g., missense mutations) in prostate cancer. In a s ... Full text Link to item Cite

Association between germline variation in the FHIT gene and prostate cancer in Caucasians and African Americans.

Journal Article Cancer Epidemiol Biomarkers Prev · June 2007 Many studies have established that loss of heterozygosity and/or altered expression of the fragile histidine triad (FHIT) gene is a common event in a number of tumor types including prostate carcinoma. Encompassing the most active fragile site in the human ... Full text Link to item Cite

Phase II evaluation of oral estramustine, oral etoposide, and intravenous paclitaxel in patients with hormone-sensitive prostate adenocarcinoma.

Journal Article Clin Genitourin Cancer · June 2007 PURPOSE: The primary objective of this study was to assess the feasibility and efficacy of administering etoposide/estramustine/paclitaxel in hormone-sensitive metastatic prostate cancer responding to hormonal therapy. PATIENTS AND METHODS: Eligible patien ... Full text Link to item Cite

Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics.

Journal Article Hum Mol Genet · June 1, 2007 Previously, an analysis of 14 extended, high-risk Utah pedigrees localized in the chromosome 22q linkage region to 3.2 Mb at 22q12.3-13.1 (flanked on each side by three recombinants) contained 31 annotated genes. In this large, multi-centered, collaborativ ... Full text Link to item Cite

Multiple regions within 8q24 independently affect risk for prostate cancer.

Journal Article Nat Genet · May 2007 After the recent discovery that common genetic variation in 8q24 influences inherited risk of prostate cancer, we genotyped 2,973 SNPs in up to 7,518 men with and without prostate cancer from five populations. We identified seven risk variants, five of the ... Full text Link to item Cite

Fine-mapping the putative chromosome 17q21-22 prostate cancer susceptibility gene to a 10 cM region based on linkage analysis.

Journal Article Hum Genet · March 2007 Prostate cancer linkage studies have suggested the existence of a prostate cancer susceptibility gene on chromosome 17q21-22. We now report the results of an extended linkage analysis including 95 new multiplex prostate cancer families and 9 additional mic ... Full text Link to item Cite

Features of the metabolic syndrome and prostate cancer in African-American men.

Journal Article Cancer · March 1, 2007 BACKGROUND: Metabolic syndrome refers to a cluster of conditions that includes hypertension, dyslipidemia, central adiposity, and high blood glucose levels. Over the past decade, a growing body of literature suggests that metabolic syndrome may be associat ... Full text Link to item Cite

Editorial Comment

Journal Article Journal of Urology · December 1, 2006 Full text Cite

Association between family history of prostate and breast cancer among African-American men with prostate cancer.

Journal Article Urology · November 2006 OBJECTIVES: To explore the familial aggregation of prostate and breast cancer using data from a population-based case-control study of African-American men participating in the Flint Men's Health Study. METHODS: A detailed family history questionnaire was ... Full text Link to item Cite

Truncating variants in p53AIP1 disrupting DNA damage-induced apoptosis are associated with prostate cancer risk.

Journal Article Cancer Res · November 1, 2006 Germ line mutations in several genes (BRCA1, BRCA2, and CHEK2) whose products are involved in the DNA damage-signaling pathway have been implicated in prostate cancer risk. To identify additional genes in this pathway that might confer susceptibility to th ... Full text Link to item Cite

Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men.

Journal Article Proc Natl Acad Sci U S A · September 19, 2006 A whole-genome admixture scan in 1,597 African Americans identified a 3.8 Mb interval on chromosome 8q24 as significantly associated with susceptibility to prostate cancer [logarithm of odds (LOD) = 7.1]. The increased risk because of inheriting African an ... Full text Link to item Cite

Sexual behavior, sexually transmitted diseases and prostatitis: the risk of prostate cancer in black men.

Journal Article J Urol · September 2006 PURPOSE: Black men are diagnosed with prostate cancer more often than white men, present with more advanced disease and have worse stage specific survival. Given the high risk of incidence and mortality in this population, determining potentially modifiabl ... Full text Link to item Cite

Dose escalation of oral vinorelbine in combination with estramustine in hormone-refractory adenocarcinoma of the prostate.

Journal Article Cancer · June 15, 2006 BACKGROUND: The primary objective of the current study was to identify the tolerable dose level of oral vinorelbine when given in combination with estramustine to men with hormone-refractory prostate cancer (HRPC). The secondary objectives were to describe ... Full text Link to item Cite

A common variant associated with prostate cancer in European and African populations.

Journal Article Nat Genet · June 2006 With the increasing incidence of prostate cancer, identifying common genetic variants that confer risk of the disease is important. Here we report such a variant on chromosome 8q24, a region initially identified through a study of Icelandic families. Allel ... Full text Link to item Cite

Genome-wide linkage scan for prostate cancer susceptibility genes in men with aggressive disease: significant evidence for linkage at chromosome 15q12.

Journal Article Hum Genet · May 2006 Epidemiological and twin studies have consistently demonstrated a strong genetic component to prostate cancer (PCa) susceptibility. To date, numerous linkage studies have been performed to identify chromosomal regions containing PCa susceptibility genes. U ... Full text Link to item Cite

Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer.

Journal Article Cancer Epidemiol Biomarkers Prev · May 2006 The Nijmegen breakage syndrome 1 (NBS1) gene, which participates in DNA double strand break repair, has been postulated to be a susceptibility factor for a number of cancers, including prostate cancer. Numerous mutations have been identified in NBS1, inclu ... Full text Link to item Cite

APC I1307K and the risk of prostate cancer.

Journal Article Cancer Epidemiol Biomarkers Prev · March 2006 The kin-cohort design has been proposed as an alternative to traditional case-control and cohort measures to evaluate inherited susceptibility to cancer in population-based studies. Here, we used this design to evaluate inherited susceptibility to prostate ... Full text Link to item Cite

Phase II evaluations of cilengitide in asymptomatic patients with androgen-independent prostate cancer: scientific rationale and study design.

Journal Article Clin Genitourin Cancer · March 2006 Two randomized trials demonstrated an improvement in survival with docetaxel-based chemotherapy for patients with metastatic, androgen-independent prostate disease. However, the effect of current therapy is suboptimal in that it is complicated by toxicitie ... Full text Link to item Cite

Genome-wide linkage scan for prostate cancer aggressiveness loci using families from the University of Michigan Prostate Cancer Genetics Project.

Journal Article Prostate · February 1, 2006 BACKGROUND: Prostate cancer (PC) is a complex disease that displays variable disease outcome, ranging from a relatively indolent disease to forms that result in death from the disease. One measure of disease severity is the Gleason score. Using the Gleason ... Full text Link to item Cite

Clonality of sarcomatous and carcinomatous elements in sarcomatoid carcinoma of the prostate.

Journal Article Urology · February 2006 Sarcomatoid carcinomas of the prostate are rare malignancies composed of carcinomatous and sarcomatous elements. Their etiology is uncertain and may represent a single malignant process or a mixture of two distinct malignancies. We report a clinical case o ... Full text Link to item Cite

Two-locus genome-wide linkage scan for prostate cancer susceptibility genes with an interaction effect.

Journal Article Hum Genet · February 2006 Prostate cancer represents a significant worldwide public health burden. Epidemiological and genetic epidemiological studies have consistently provided data supporting the existence of inherited prostate cancer susceptibility genes. Segregation analyses of ... Full text Link to item Cite

Prohibitin mutations are uncommon in prostate cancer families linked to chromosome 17q.

Journal Article Prostate Cancer Prostatic Dis · 2006 BACKGROUND: Linkage studies have provided evidence for a prostate cancer susceptibility locus on chromosome 17q. The mitochondrial protein prohibitin (PHB) is a plausible candidate gene based on its chromosomal location (17q21) and known function. METHODS: ... Full text Link to item Cite

Polymorphisms in the prostate-specific antigen gene promoter do not predict serum prostate-specific antigen levels in African-American men.

Journal Article Prostate Cancer Prostatic Dis · 2006 A major problem with the use of serum prostate-specific antigen (PSA) in predicting prostate cancer risk is the considerable variability of such measurements. Cramer et al. identified a set of single-nucleotide polymorphisms (SNPs) in the upstream regulato ... Full text Link to item Cite

INSPstI polymorphism and prostate cancer in African-American men.

Journal Article Prostate · September 15, 2005 BACKGROUND: Both prostate cancer and diabetes mellitus are common diseases in African-American men. High insulin levels and insulin resistance have been implicated in prostate cancer development, which has prompted a recent investigation of a possible role ... Full text Link to item Cite

Identifying susceptibility genes for prostate cancer--a family-based association study of polymorphisms in CYP17, CYP19, CYP11A1, and LH-beta.

Journal Article Cancer Epidemiol Biomarkers Prev · August 2005 Polymorphisms in genes that code for enzymes or hormones involved in the synthesis and metabolism of androgens are compelling biological candidates for prostate cancer. Four such genes, CYP17, CYP19, CYP11A1, and LH-beta, are involved in the synthesis and ... Full text Link to item Cite

A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics.

Journal Article Am J Hum Genet · August 2005 Evidence of the existence of major prostate cancer (PC)-susceptibility genes has been provided by multiple segregation analyses. Although genomewide screens have been performed in over a dozen independent studies, few chromosomal regions have been consiste ... Full text Link to item Cite

Decreasing age at prostate cancer diagnosis over successive generations in prostate cancer families.

Journal Article Prostate · June 15, 2005 BACKGROUND: The decline in age at prostate cancer diagnosis over the past decade is partially attributable to prostate specific antigen (PSA) screening. We examined age at diagnosis over successive generations within prostate cancer families. METHODS: Fami ... Full text Link to item Cite

Longitudinal changes in lower urinary tract symptoms among a cohort of black American men: the Flint Men's Health Study.

Journal Article Urology · November 2004 OBJECTIVES: To examine the progression of lower urinary tract symptoms in a longitudinal population-based cohort of black men. Population-based studies of prostatism and longitudinal data regarding changes in lower urinary tract symptom severity have large ... Full text Link to item Cite

Truncating BRCA1 mutations are uncommon in a cohort of hereditary prostate cancer families with evidence of linkage to 17q markers.

Journal Article Clin Cancer Res · September 15, 2004 PURPOSE: A genome-wide scan of 175 hereditary prostate cancer families from the University of Michigan Prostate Cancer Genetics Project provided evidence of prostate cancer linkage to 17q markers near the BRCA1 gene. To examine the possibility that germ-li ... Full text Link to item Cite

Combined genome-wide scan for prostate cancer susceptibility genes.

Journal Article J Natl Cancer Inst · August 18, 2004 BACKGROUND: Prostate cancer represents a substantial public health burden worldwide. It is the second leading cause of cancer death among men in the United States. A family history of the disease is among the most well-established risk factors for prostate ... Full text Link to item Cite

Risk perception and concern among brothers of men with prostate carcinoma.

Journal Article Cancer · April 1, 2004 BACKGROUND: It is important for clinicians, researchers, and others who shape public health policy to understand the demographic correlates and psychologic factors that drive health behaviors, such as screening for early detection of cancer, particularly a ... Full text Link to item Cite

Association between Agent Orange and prostate cancer: a pilot case-control study.

Journal Article Urology · April 2004 OBJECTIVES: To estimate in a pilot study the risk of being diagnosed with prostate cancer after exposure to Agent Orange in a clinical population of military veterans. Prostate cancer is the most common cancer diagnosed in American men and the second leadi ... Full text Link to item Cite

Use of complementary and alternative medicine in men with family history of prostate cancer: a pilot study.

Journal Article Urology · February 2004 OBJECTIVES: To describe the use of complementary and alternative medicines (CAMs) among men with a family history of prostate cancer and to evaluate the relationship between selected sociodemographic and behavioral characteristics and the use of CAMs. METH ... Full text Link to item Cite

Hereditary prostate cancer in African American families: linkage analysis using markers that map to five candidate susceptibility loci.

Journal Article Br J Cancer · January 26, 2004 African American men have the highest incidence of prostate cancer in the world. Despite this statistic, linkage studies designed to localise prostate cancer susceptibility alleles have included primarily men of Caucasian descent. In this report, we perfor ... Full text Link to item Cite

Genome-wide scan for prostate cancer susceptibility genes using families from the University of Michigan prostate cancer genetics project finds evidence for linkage on chromosome 17 near BRCA1.

Journal Article Prostate · December 1, 2003 BACKGROUND: Previous linkage studies have suggested prostate cancer susceptibility genes located on chromosomes 1, 20, and X. Several putative prostate cancer candidate genes have also been identified including RNASEL, MSR1, and ELAC2. Presently, these lin ... Full text Link to item Cite

Family history of prostate cancer and relapse after definitive external beam radiation therapy.

Conference Int J Radiat Oncol Biol Phys · October 1, 2003 PURPOSE: The influence of family history on outcome after definitive therapy for prostate cancer has been disputed. One series reported increased relapse rates in men with a positive family history of prostate cancer treated with radical prostatectomy or r ... Full text Link to item Cite

Prostate cancer early detection practices among men with a family history of disease.

Journal Article Urology · September 2003 OBJECTIVES: Genetic studies of familial prostate cancer, which is often asymptomatic until advanced stages, rely on correct designation of affection status. In this pilot study, we set out to determine the proportion of unaffected men whose families are pa ... Full text Link to item Cite

Germ-line mutations of the macrophage scavenger receptor 1 gene: association with prostate cancer risk in African-American men.

Journal Article Cancer Res · July 1, 2003 Both rare germ-line mutations and common sequence variants of the macrophage scavenger receptor 1 (MSR1) gene have recently been implicated as potential prostate cancer susceptibility factors. However, existing studies are limited by the referral-based nat ... Link to item Cite

Comparison of lower urinary tract symptom severity and associated bother between community-dwelling black and white men: the Olmsted County Study of Urinary Symptoms and Health Status and the Flint Men's Health Study.

Journal Article Urology · June 2003 OBJECTIVES: To determine the magnitude of racial disparity in lower urinary tract symptom (LUTS) severity and bother by combining two large comparable epidemiologic studies of community-dwelling white and black men, thereby avoiding many of the referral bi ... Full text Link to item Cite

Risk factors for lower urinary tract symptoms in a population-based sample of African-American men.

Journal Article Am J Epidemiol · May 15, 2003 Previous epidemiologic studies evaluating risk factors for lower urinary tract symptoms (LUTS) have focused on White populations. Between September 1996 and January 1998, in a population-based sample of African-American men aged 40-79 years in Flint, Michi ... Full text Link to item Cite

R726L androgen receptor mutation is uncommon in prostate cancer families in the united states.

Journal Article Prostate · March 1, 2003 BACKGROUND: A mutation in the androgen receptor (AR) gene, namely AR R726L, was described in 2% of Finnish men with sporadic or familial prostate cancer and was associated with an approximately sixfold increased risk of prostate cancer. We set out to deter ... Full text Link to item Cite

Relationship of serum sex-steroid hormones and prostate volume in African American men.

Journal Article Prostate · December 1, 2002 BACKGROUND: Previous epidemiologic investigations of the associations of sex-steroid hormones and benign prostatic hyperplasia (BPH) have focused on predominately white populations. The objective of this study was to evaluate potential associations of body ... Full text Link to item Cite

Metastatic dedifferentiated chordoma with elevated beta-hCG: a case report.

Journal Article Am J Clin Oncol · June 2002 Chordomas are relatively uncommon bone tumors, and fewer than 10% of cases are classified as dedifferentiated chordomas. These tumors tend to be more clinically aggressive than chordomas and have a higher incidence of early distant metastases. In this case ... Full text Link to item Cite

Early onset prostate cancer: predictors of clinical grade.

Journal Article J Urol · April 2002 PURPOSE: Prostate cancer is typically a disease of elderly men and, therefore, it has not been well characterized in those affected at a young age. With the advent of serum prostate specific antigen testing, we are able to detect prostate cancer in young m ... Link to item Cite

Insulin-like growth factor-1, insulin-like growth factor binding protein-3, and body mass index: clinical correlates of prostate volume among Black men.

Journal Article Urology · March 2002 OBJECTIVES: To examine the relationship between insulin-like growth factor-1 (IGF-1), insulin-like growth factor binding protein-3 (IGFBP-3), and body mass index and prostate volume, as a surrogate marker for benign prostatic hyperplasia, in a community-ba ... Full text Link to item Cite

Loss of heterozygosity of the putative prostate cancer susceptibility gene HPC2/ELAC2 is uncommon in sporadic and familial prostate cancer.

Journal Article Cancer Res · December 15, 2001 The recognition that prostate cancer clusters within families has led to the search for prostate cancer susceptibility genes. Recently, the HPC2/ELAC2 gene on chromosome 17p has been identified as a potential prostate cancer predisposition gene using both ... Link to item Cite

The natural history of lower urinary tract symptoms in black American men: relationships with aging, prostate size, flow rate and bothersomeness.

Journal Article J Urol · May 2001 PURPOSE: Studies of lower urinary tract symptoms in men have been restricted to predominately white populations and these observations may not be generalized to black American men. A goal of the Flint Men's Health Study was to evaluate the prevalence of lo ... Link to item Cite

Analysis of the prostate cancer-susceptibility locus HPC20 in 172 families affected by prostate cancer.

Journal Article Am J Hum Genet · March 2001 A recent study of hereditary prostate cancer has provided evidence for a prostate cancer-susceptibility locus, HPC20, which maps to 20q13. To assess further the potential contribution of this locus to prostate cancer susceptibility, we studied 172 unrelate ... Full text Link to item Cite

Potential selection bias in a community-based study of PSA levels in African-American men.

Journal Article J Clin Epidemiol · February 2001 The first phase of the Flint Men's Health Study (FMHS) in Michigan was a community-based epidemiologic study of prostate cancer and benign prostatic hyperplasia (BPH) in African-Americans aged 40 to 79 years. An objective of the FMHS was to determine age-s ... Full text Link to item Cite

Age-specific distribution of serum prostate-specific antigen in a community-based study of African-American men.

Journal Article Urology · January 2001 OBJECTIVES: Previous studies have observed higher age-specific serum prostate-specific antigen (PSA) values in African-American (AA) men without prostate cancer compared to white men, leading some to recommend race-specific PSA reference ranges for the ear ... Full text Link to item Cite

The polymorphic exon 1 androgen receptor CAG repeat in men with a potential inherited predisposition to prostate cancer.

Journal Article Cancer Epidemiol Biomarkers Prev · April 2000 Recent studies have provided epidemiological evidence in support of a possible prostate cancer susceptibility locus on the X chromosome. The androgen receptor (AR) gene, located at Xq11-12, has been implicated as a risk factor for the development of prosta ... Link to item Cite

Linkage analysis of 153 prostate cancer families over a 30-cM region containing the putative susceptibility locus HPCX.

Journal Article Clin Cancer Res · December 1999 Several genetic epidemiological studies have provided data to support the hypothesis that there are genes on the X chromosome that may contribute to prostate cancer susceptibility. A recent linkage study of 360 prostate cancer families described evidence f ... Link to item Cite

Androgen deprivation therapy for prostate cancer results in significant loss of bone density.

Journal Article Urology · October 1999 OBJECTIVES: Advanced prostate cancer is a frequently diagnosed condition in the aging male population, and many men will ultimately be treated with androgen deprivation therapy (ADT). Long-term consequences of ADT on bone mineral density (BMD) have not bee ... Full text Link to item Cite

Absence of PTEN germ-line mutations in men with a potential inherited predisposition to prostate cancer.

Journal Article Clin Cancer Res · June 1999 Epidemiological studies have demonstrated that men with a family history of prostate cancer are at an increased risk for this disease. This important observation has led a number of research teams, including our own, to collect DNA samples and clinical dat ... Link to item Cite

Molecular biology in the management of solid tumors: Breast, colon, and prostate cancer

Chapter · January 1, 1999 The application of molecular biology principles and techniques to the understanding of the carcinogenesis process has produced a revolutionary and ever-expanding body of knowledge that is poised to impact prevention, diagnosis, and treatment of solid tumor ... Cite

Hereditary prostate cancer in African-American families.

Journal Article Semin Urol Oncol · November 1998 The recognition that family history is an important risk factor for the development of prostate cancer has led to the search for prostate cancer susceptibility genes. Although most prostate cancer linkage studies have focused on Caucasian families, there i ... Link to item Cite

Re: Researchers make slow headway in managing dry mouth.

Journal Article J Natl Cancer Inst · December 17, 1997 Full text Link to item Cite

Prostate cancer susceptibility locus on chromosome 1q: a confirmatory study.

Journal Article J Natl Cancer Inst · July 2, 1997 BACKGROUND: Recent recognition that a predisposition to prostate cancer can be inherited has led to a search for specific genes associated with the disease. Through a study of families with three or more affected first-degree relatives, a region on the lon ... Full text Link to item Cite

A region of interstitial 17q25 allelic loss in ovarian tumors coincides with a defined region of loss in breast tumors.

Journal Article Oncogene · April 24, 1997 Chromosomal regions of allelic imbalance in tumors are predicted to define the general location of tumor suppressor genes. We previously localized a putative breast tumor suppressor gene to a 3 cM region on 17q25 by deletion mapping of microsatellite marke ... Full text Link to item Cite

A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11.

Journal Article Proc Natl Acad Sci U S A · December 24, 1996 Type 1 von Willebrand disease (VWD), characterized by reduced levels of plasma von Willebrand factor (VWF), is the most common inherited bleeding disorder in humans. Penetrance of VWD is incomplete, and expression of the bleeding phenotype is highly variab ... Full text Link to item Cite

Identification and characterization of proximal 6q deletions in prostate cancer.

Journal Article Cancer Res · September 15, 1996 Allelic loss of 8p, 10q, 13q, 16q, and 18q has been frequently demonstrated in prostate cancer, implying the existence of putative tumor suppressor genes in these regions. However, there are likely a number of additional genetic events that define the prog ... Link to item Cite

Comparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets.

Journal Article Blood · March 15, 1996 von Willebrand factor (vWF) is a multimeric glycoprotein that forms an adhesive link following vascular injury between the vessel wall and its primary ligand on the platelet surface, glycoprotein Ib (GpIb). Type 2b von Willebrand disease (vWD) is a qualita ... Link to item Cite

Distinct regions of allelic loss on 13q in prostate cancer.

Journal Article Cancer Res · March 1, 1996 Loss of heterozygosity (LOH) involving the long arm of chromosome 13 has been reported to occur in as many as one third of primary prostate cancers. Candidate tumor suppressor genes on 13q that may be important in the development of prostate cancer include ... Link to item Cite

Familial association of primary pulmonary hypertension and a new low-oxygen affinity beta-chain hemoglobinopathy, Hb Washtenaw.

Journal Article Chest · March 1996 A Hungarian-American kindred with familial primary pulmonary hypertension (PPH) and a new, low-oxygen affinity beta-chain variant hemoglobin, Hb Washtenaw, is described. The index case presented with severe PPH and was found to have the abnormal hemoglobin ... Full text Link to item Cite

Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.

Journal Article Nat Genet · April 1995 The BRCA1 gene on chromosome 17q21 is responsible for an autosomal dominant syndrome of increased susceptibility to breast and ovarian cancer but no somatic mutations in tumours have yet been described. To study the potential role of BRCA1 in sporadic carc ... Full text Link to item Cite

von Willebrand disease in the RIIIS/J mouse is caused by a defect outside of the von Willebrand factor gene.

Journal Article Blood · June 1, 1994 An animal model for human type I von Willebrand disease (vWD) has been previously described in the inbred mouse strain RIIIS/J. Murine vWD is characterized by a prolonged bleeding time, normal von Willebrand factor (vWF) multimer distribution, autosomal do ... Link to item Cite

Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.

Journal Article Blood · March 15, 1994 Type IIA von Willebrand disease (vWD) is an autosomal dominant bleeding disorder characterized by a qualitative defect in von Willebrand factor (vWF). A number of missense mutations responsible for type IIA vWD have recently been identified. This report ex ... Link to item Cite

Functional analysis of a type IIB von Willebrand disease missense mutation: increased binding of large von Willebrand factor multimers to platelets.

Journal Article Proc Natl Acad Sci U S A · April 1, 1992 Type IIB von Willebrand disease is an autosomal dominant bleeding disorder characterized by the selective loss of high molecular weight von Willebrand factor (vWF) multimers in plasma, presumably due to their abnormally increased reactivity with platelets. ... Full text Link to item Cite

The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.

Journal Article J Clin Invest · April 1991 Type IIB von Willebrand Disease (vWD) is characterized by the selective loss of large von Willebrand Factor (vWF) multimers from plasma, presumably due to their increased reactivity with platelets and subsequent clearance from the circulation. Using the PC ... Full text Link to item Cite

Evaluating the utility of available differential diagnosis systems

Conference Proceedings - Annual Symposium on Computer Applications in Medical Care · November 1, 1988 Results of an evaluation testing the accuracy and performance of two differential diagnosis systems, Meditel and DXplain, obtained by utilizing 103 consecutive clinical cases culled from the Internal Medicine Service at the University of Michigan, are pres ... Cite