Journal ArticleProstate Cancer Prostatic Dis · June 2025
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. ...
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Journal ArticleProstate · 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 ...
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Journal ArticleUrol 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleEuropean 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/ ...
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Journal ArticleJCO 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 ...
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Journal ArticleProstate 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 ...
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Journal ArticleBr 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleLancet 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleUrol 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 ...
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Journal ArticleEur 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 ...
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Journal ArticleEur 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 ...
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Journal ArticleBritish journal of 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 ...
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Journal ArticleEur 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 ...
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Journal ArticleClin 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 ...
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Journal ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology · August 2020
PurposeGermline 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 i ...
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Journal ArticleCancer 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleEur 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleMed 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 ...
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Journal ArticleCan 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 ...
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Journal ArticleCan 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. ...
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Journal ArticleCancer 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 ...
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ConferenceJournal 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 ...
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Journal ArticleJ 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. ...
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Journal ArticleJCO 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleCancer · 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 ...
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Journal ArticleGenet 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 ...
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Journal ArticleEur 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 ...
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Journal ArticleTrans 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleGenet 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 ...
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Journal ArticleEur 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 ...
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Journal ArticleHum 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 ...
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Journal ArticleCancer 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 ...
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ConferenceCancer 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 ...
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Journal ArticlePharmacogenomics · 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 ...
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Journal ArticleAdv 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 ...
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Journal ArticleAsian 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleCancer 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 ...
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ConferenceCancer 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleBreast 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 ...
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Journal ArticleAnn 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 ...
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Journal ArticleCell · 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 ...
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Journal ArticleHum 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 ...
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Journal ArticleNeoplasia · 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleCancer · 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleNat 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleBJU 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 ...
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Journal ArticlePlos 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 ...
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Journal ArticleHum 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticleJ 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 ...
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ConferenceCancer 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 ...
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Journal ArticleNat 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleProstate 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 ...
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Journal ArticleHum 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 ...
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Journal ArticleHum 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 ...
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Journal ArticleFam 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 ...
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Journal ArticleHum 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleIntegr 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 ...
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ConferenceCancer 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 ...
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Journal ArticleInvest 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleProstate · 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. ...
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Journal ArticleN 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 ...
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Journal ArticleInvest 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 ...
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Journal ArticleNat 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 ...
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Journal ArticleNat 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 ...
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ConferenceCancer 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 ...
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ConferenceCancer 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 ...
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Journal ArticleFam 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleProstate 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleBr 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 ...
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Journal ArticleStat 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleNat 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleStat 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleInt 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleCell 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleBreast 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleClin 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 ...
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Journal ArticleHum 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 ...
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Journal ArticleNat 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 ...
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Journal ArticleHum 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 ...
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Journal ArticleCancer · 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleProc 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleCancer · 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 ...
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Journal ArticleNat 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 ...
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Journal ArticleHum 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleClin 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleHum 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 ...
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Journal ArticleProstate 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: ...
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Journal ArticleProstate 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleClin 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleCancer · 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleBr 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 ...
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Journal ArticleProstate · 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 ...
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ConferenceInt 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleProstate · 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleClin 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 ...
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Journal ArticleUrology · 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 ...
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Journal ArticleClin 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 ...
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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 ...
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Journal ArticleSemin 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleOncogene · 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 ...
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Journal ArticleProc 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleBlood · 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleChest · 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 ...
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Journal ArticleNat 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 ...
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Journal ArticleBlood · 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 ...
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Journal ArticleBlood · 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 ...
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Journal ArticleProc 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. ...
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Journal ArticleJ 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 ...
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ConferenceProceedings 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 ...
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