Scholars@Duke
Edwin Severin Iversen Jr.

Edwin Severin Iversen Jr.

Research Professor of Statistical Science
Statistical Science
iversen@duke.edu
Box 90251, Durham, NC 27708-0251
122B Old Chemistry, Box 90251, Durham, NC 27708
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Selected Publications

Deep Learning Resolves Myovascular Dynamics in the Failing Human Heart.

Journal Article JACC Basic Transl Sci · May 2024 The adult mammalian heart harbors minute levels of cycling cardiomyocytes (CMs). Large numbers of images are needed to accurately quantify cycling events using microscopy-based methods. CardioCount is a new deep learning-based pipeline to rigorously score ... Full text Link to item Cite

Assessment of BRCA1 and BRCA2 Germline Variant Data From Patients With Breast Cancer in a Real-World Data Registry.

Journal Article JCO clinical cancer informatics · May 2024 PurposeThe emergence of large real-world clinical databases and tools to mine electronic medical records has allowed for an unprecedented look at large data sets with clinical and epidemiologic correlates. In clinical cancer genetics, real-world d ... Full text Cite

Regionalization of stroke systems of care in the stroke belt states: The IMPROVE stroke care quality improvement program.

Journal Article Am Heart J · March 2024 BACKGROUND: Despite guidelines and strong evidence supporting intravenous thrombolysis and endovascular thrombectomy for acute stroke, access to these interventions remains a challenge. The objective of the IMPROVE stroke care program was to accelerate acu ... Full text Link to item Cite

A diverse portfolio of marine protected areas can better advance global conservation and equity.

Journal Article Proceedings of the National Academy of Sciences of the United States of America · March 2024 Marine protected areas (MPAs) are widely used for ocean conservation, yet the relative impacts of various types of MPAs are poorly understood. We estimated impacts on fish biomass from no-take and multiple-use (fished) MPAs, employing a rigorous matched co ... Full text Cite

BRCA1 frameshift variants leading to extended incorrect protein C termini.

Journal Article HGG advances · October 2023 Carriers of BRCA1 germline pathogenic variants are at substantially higher risk of developing breast and ovarian cancer than the general population. Accurate identification of at-risk individuals is crucial for risk stratification and the implementation of ... Full text Cite

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Journal Article Scientific reports · September 2022 BRCA1 (Breast Cancer 1, early onset) is linked to breast and ovarian cancer predisposition. Still, the risks conferred by a significant portion of BRCA1 variants identified in the population remains unknown. Most of these variants of uncertain significance ... Full text Cite

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Journal Article NPJ genomic medicine · June 2022 Loss-of-function variants in the BRCA1 and BRCA2 susceptibility genes predispose carriers to breast and/or ovarian cancer. The use of germline testing panels containing these genes has grown dramatically, but the interpretation of the results has been comp ... Full text Cite

Association of time-temperature curves with outcomes in temperature management for cardiac arrest.

Journal Article BMJ neurology open · January 2022 Background/purposeCardiac arrest is a common cause of death and neurological injury; therapeutic cooling for neuroprotection is standard of care. Despite numerous and ongoing trials targeting a specified cooling temperature for a target duration, ... Full text Open Access Cite

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.

Journal Article Genetics in medicine : official journal of the American College of Medical Genetics · February 2021 PurposeBRCA1 pathogenic variant heterozygotes are at a substantially increased risk for breast and ovarian cancer. The widespread uptake of testing has led to a significant increase in the detection of missense variants in BRCA1, the vast majority ... Full text Cite

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Journal Article NPJ genomic medicine · December 2020 Sequencing-based genetic tests to identify individuals at increased risk of hereditary breast and ovarian cancers have resulted in the identification of more than 40,000 sequence variants of BRCA1 and BRCA2. A majority of these variants are considered to b ... Full text Cite

Clonal Analysis of the Neonatal Mouse Heart using Nearest Neighbor Modeling.

Journal Article J Vis Exp · August 22, 2020 By replacing lost or dysfunctional myocardium, tissue regeneration is a promising approach to treat heart failure. However, the challenge of detecting bona fide heart regeneration limits the validation of potential regenerative factors. One method to detec ... Full text Link to item Cite

Early Child Care and Weight Status in a Cohort of Predominantly Black Infants in the Southeastern United States.

Journal Article Child Obes · March 2020 Background: Previous studies show inconsistent relations between child care and obesity, but few assessed longitudinal associations during infancy and even fewer included racially diverse children. We examined associations of time infants spent in child ca ... Full text Link to item Cite

The Risk of Ovarian Cancer Increases with an Increase in the Lifetime Number of Ovulatory Cycles: An Analysis from the Ovarian Cancer Cohort Consortium (OC3).

Journal Article Cancer research · March 2020 Repeated exposure to the acute proinflammatory environment that follows ovulation at the ovarian surface and distal fallopian tube over a woman's reproductive years may increase ovarian cancer risk. To address this, analyses included individual-level data ... Full text Cite

Bridging the gaps: using an NHP model to predict single dose radiation absorption in humans.

Journal Article Int J Radiat Biol · January 2020 Purpose: Design and characterization of a radiation biodosimetry device are complicated by the fact that the requisite data are not available in the intended use population, namely humans exposed to a single, whole-body radiation dose. Instead, one must tu ... Full text Link to item Cite

Artificial habitats host elevated densities of large reef-associated predators.

Journal Article PloS one · January 2020 Large predators play important ecological roles, yet many are disproportionately imperiled. In marine systems, artificial reefs are often deployed to restore degraded reefs or supplement existing reefs, but it remains unknown whether these interventions be ... Full text Cite

Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk.

Journal Article Cancer Epidemiol Biomarkers Prev · July 2019 BACKGROUND: Germline DNA copy number variation (CNV) is a ubiquitous source of genetic variation and remains largely unexplored in association with epithelial ovarian cancer (EOC) risk. METHODS: CNV was quantified in the DNA of approximately 3,500 cases an ... Full text Link to item Cite

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.

Journal Article The Journal of biological chemistry · April 2019 Genetic testing for BRCA1, a DNA repair protein, can identify carriers of pathogenic variants associated with a substantially increased risk for breast and ovarian cancers. However, an association with increased risk is unclear for a large fraction ... Full text Cite

Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus.

Journal Article Cancer Res · February 1, 2019 Genome-wide association studies have identified 40 ovarian cancer risk loci. However, the mechanisms underlying these associations remain elusive. In this study, we conducted a two-pronged approach to identify candidate causal SNPs and assess underlying bi ... Full text Link to item Cite

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Journal Article Genetics in medicine : official journal of the American College of Medical Genetics · January 2019 PurposeTo improve methods for predicting the impact of missense variants of uncertain significance (VUS) in BRCA1 and BRCA2 on protein function.MethodsFunctional data for 248 BRCA1 and 207 BRCA2 variants from assays with established high ... Full text Cite

Deep Learning Resolves Myovascular Dynamics in the Failing Human Heart.

Journal Article JACC Basic Transl Sci · May 2024 The adult mammalian heart harbors minute levels of cycling cardiomyocytes (CMs). Large numbers of images are needed to accurately quantify cycling events using microscopy-based methods. CardioCount is a new deep learning-based pipeline to rigorously score ... Full text Link to item Cite

Assessment of BRCA1 and BRCA2 Germline Variant Data From Patients With Breast Cancer in a Real-World Data Registry.

Journal Article JCO clinical cancer informatics · May 2024 PurposeThe emergence of large real-world clinical databases and tools to mine electronic medical records has allowed for an unprecedented look at large data sets with clinical and epidemiologic correlates. In clinical cancer genetics, real-world d ... Full text Cite

Regionalization of stroke systems of care in the stroke belt states: The IMPROVE stroke care quality improvement program.

Journal Article Am Heart J · March 2024 BACKGROUND: Despite guidelines and strong evidence supporting intravenous thrombolysis and endovascular thrombectomy for acute stroke, access to these interventions remains a challenge. The objective of the IMPROVE stroke care program was to accelerate acu ... Full text Link to item Cite

A diverse portfolio of marine protected areas can better advance global conservation and equity.

Journal Article Proceedings of the National Academy of Sciences of the United States of America · March 2024 Marine protected areas (MPAs) are widely used for ocean conservation, yet the relative impacts of various types of MPAs are poorly understood. We estimated impacts on fish biomass from no-take and multiple-use (fished) MPAs, employing a rigorous matched co ... Full text Cite

BRCA1 frameshift variants leading to extended incorrect protein C termini.

Journal Article HGG advances · October 2023 Carriers of BRCA1 germline pathogenic variants are at substantially higher risk of developing breast and ovarian cancer than the general population. Accurate identification of at-risk individuals is crucial for risk stratification and the implementation of ... Full text Cite

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Journal Article Scientific reports · September 2022 BRCA1 (Breast Cancer 1, early onset) is linked to breast and ovarian cancer predisposition. Still, the risks conferred by a significant portion of BRCA1 variants identified in the population remains unknown. Most of these variants of uncertain significance ... Full text Cite

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Journal Article NPJ genomic medicine · June 2022 Loss-of-function variants in the BRCA1 and BRCA2 susceptibility genes predispose carriers to breast and/or ovarian cancer. The use of germline testing panels containing these genes has grown dramatically, but the interpretation of the results has been comp ... Full text Cite

Association of time-temperature curves with outcomes in temperature management for cardiac arrest.

Journal Article BMJ neurology open · January 2022 Background/purposeCardiac arrest is a common cause of death and neurological injury; therapeutic cooling for neuroprotection is standard of care. Despite numerous and ongoing trials targeting a specified cooling temperature for a target duration, ... Full text Open Access Cite

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.

Journal Article Genetics in medicine : official journal of the American College of Medical Genetics · February 2021 PurposeBRCA1 pathogenic variant heterozygotes are at a substantially increased risk for breast and ovarian cancer. The widespread uptake of testing has led to a significant increase in the detection of missense variants in BRCA1, the vast majority ... Full text Cite

A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Journal Article NPJ genomic medicine · December 2020 Sequencing-based genetic tests to identify individuals at increased risk of hereditary breast and ovarian cancers have resulted in the identification of more than 40,000 sequence variants of BRCA1 and BRCA2. A majority of these variants are considered to b ... Full text Cite

Clonal Analysis of the Neonatal Mouse Heart using Nearest Neighbor Modeling.

Journal Article J Vis Exp · August 22, 2020 By replacing lost or dysfunctional myocardium, tissue regeneration is a promising approach to treat heart failure. However, the challenge of detecting bona fide heart regeneration limits the validation of potential regenerative factors. One method to detec ... Full text Link to item Cite

Early Child Care and Weight Status in a Cohort of Predominantly Black Infants in the Southeastern United States.

Journal Article Child Obes · March 2020 Background: Previous studies show inconsistent relations between child care and obesity, but few assessed longitudinal associations during infancy and even fewer included racially diverse children. We examined associations of time infants spent in child ca ... Full text Link to item Cite

The Risk of Ovarian Cancer Increases with an Increase in the Lifetime Number of Ovulatory Cycles: An Analysis from the Ovarian Cancer Cohort Consortium (OC3).

Journal Article Cancer research · March 2020 Repeated exposure to the acute proinflammatory environment that follows ovulation at the ovarian surface and distal fallopian tube over a woman's reproductive years may increase ovarian cancer risk. To address this, analyses included individual-level data ... Full text Cite

Bridging the gaps: using an NHP model to predict single dose radiation absorption in humans.

Journal Article Int J Radiat Biol · January 2020 Purpose: Design and characterization of a radiation biodosimetry device are complicated by the fact that the requisite data are not available in the intended use population, namely humans exposed to a single, whole-body radiation dose. Instead, one must tu ... Full text Link to item Cite

Artificial habitats host elevated densities of large reef-associated predators.

Journal Article PloS one · January 2020 Large predators play important ecological roles, yet many are disproportionately imperiled. In marine systems, artificial reefs are often deployed to restore degraded reefs or supplement existing reefs, but it remains unknown whether these interventions be ... Full text Cite

Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk.

Journal Article Cancer Epidemiol Biomarkers Prev · July 2019 BACKGROUND: Germline DNA copy number variation (CNV) is a ubiquitous source of genetic variation and remains largely unexplored in association with epithelial ovarian cancer (EOC) risk. METHODS: CNV was quantified in the DNA of approximately 3,500 cases an ... Full text Link to item Cite

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.

Journal Article The Journal of biological chemistry · April 2019 Genetic testing for BRCA1, a DNA repair protein, can identify carriers of pathogenic variants associated with a substantially increased risk for breast and ovarian cancers. However, an association with increased risk is unclear for a large fraction ... Full text Cite

Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus.

Journal Article Cancer Res · February 1, 2019 Genome-wide association studies have identified 40 ovarian cancer risk loci. However, the mechanisms underlying these associations remain elusive. In this study, we conducted a two-pronged approach to identify candidate causal SNPs and assess underlying bi ... Full text Link to item Cite

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Journal Article Genetics in medicine : official journal of the American College of Medical Genetics · January 2019 PurposeTo improve methods for predicting the impact of missense variants of uncertain significance (VUS) in BRCA1 and BRCA2 on protein function.MethodsFunctional data for 248 BRCA1 and 207 BRCA2 variants from assays with established high ... Full text Cite

rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology.

Journal Article Int J Mol Sci · August 21, 2018 Thymidylate synthase (TYMS) is a crucial enzyme for DNA synthesis. TYMS expression is regulated by its antisense mRNA, ENOSF1. Disrupted regulation may promote uncontrolled DNA synthesis and tumor growth. We sought to replicate our previously reported asso ... Full text Link to item Cite

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.

Journal Article American journal of human genetics · February 2018 Many variants of uncertain significance (VUS) have been identified in BRCA2 through clinical genetic testing. VUS pose a significant clinical challenge because the contribution of these variants to cancer risk has not been determined. We conducted a compre ... Full text Cite

Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility.

Journal Article PLoS One · 2018 Epithelial ovarian cancer (EOC) is the fifth leading cause of cancer mortality in American women. Normal ovarian physiology is intricately connected to small GTP binding proteins of the Ras superfamily (Ras, Rho, Rab, Arf, and Ran) which govern processes s ... Full text Link to item Cite

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Journal Article Nat Genet · May 2017 To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for d ... Full text Link to item Cite

TRPV1 temperature activation is specifically sensitive to strong decreases in amino acid hydrophobicity.

Journal Article Sci Rep · April 3, 2017 Several transient receptor potential (TRP) ion channels can be directly activated by hot or cold temperature with high sensitivity. However, the structures and molecular mechanism giving rise to their high temperature sensitivity are not fully understood. ... Full text Link to item Cite

Cohort profile for the Nurture Observational Study examining associations of multiple caregivers on infant growth in the Southeastern USA.

Journal Article BMJ Open · February 8, 2017 PURPOSE: Childcare has been associated with obesity in children in cross-sectional and longitudinal studies, although some observed no association. Few studies have focused on care during infancy, a period when children may be especially vulnerable. PARTIC ... Full text Link to item Cite

Characterization of dependencies between growth and division in budding yeast.

Journal Article J R Soc Interface · February 2017 Cell growth and division are processes vital to the proliferation and development of life. Coordination between these two processes has been recognized for decades in a variety of organisms. In the budding yeast Saccharomyces cerevisiae, this coordination ... Full text Link to item Cite

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

Journal Article J Med Genet · December 2016 BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk ... Full text Link to item Cite

Effects of Stone Size on the Comminution Process and Efficiency in Shock Wave Lithotripsy.

Journal Article Ultrasound in medicine & biology · November 2016 The effects of stone size on the process and comminution efficiency of shock wave lithotripsy (SWL) were investigated in experiments, numerical simulations and scale analysis. Cylindrical BegoStone phantoms with approximately equal height and diameter of e ... Full text Cite

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer.

Journal Article Oncotarget · October 25, 2016 BACKGROUND: Regulatory T (Treg) cells, a subset of CD4+ T lymphocytes, are mediators of immunosuppression in cancer, and, thus, variants in genes encoding Treg cell immune molecules could be associated with ovarian cancer. METHODS: In a population of 15,59 ... Full text Link to item Cite

Risk Prediction for Epithelial Ovarian Cancer in 11 United States-Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci.

Journal Article Am J Epidemiol · October 15, 2016 Previously developed models for predicting absolute risk of invasive epithelial ovarian cancer have included a limited number of risk factors and have had low discriminatory power (area under the receiver operating characteristic curve (AUC) < 0.60). Becau ... Full text Open Access Link to item Cite

Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.

Journal Article Hum Mol Genet · August 15, 2016 Rare and low frequency variants are not well covered in most germline genotyping arrays and are understudied in relation to epithelial ovarian cancer (EOC) risk. To address this gap, we used genotyping arrays targeting rarer protein-coding variation in 8,1 ... Full text Link to item Cite

Association between Prepregnancy Body Mass Index and Gestational Weight Gain with Size, Tempo, and Velocity of Infant Growth: Analysis of the Newborn Epigenetic Study Cohort.

Journal Article Child Obes · June 2016 BACKGROUND: The first 1000 days of life is a critical period of infant growth that has been linked to future adult health. Understanding prenatal factors that contribute to variation in growth during this period could inform successful prevention strategie ... Full text Link to item Cite

Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer.

Journal Article Cancer Epidemiol Biomarkers Prev · March 2016 BACKGROUND: While numerous susceptibility loci for epithelial ovarian cancer (EOC) have been identified, few associations have been reported with overall survival. In the absence of common prognostic genetic markers, we hypothesize that rare coding variant ... Full text Link to item Cite

Mapping nucleosome positions using DNase-seq.

Journal Article Genome Res · March 2016 Although deoxyribonuclease I (DNase I) was used to probe the structure of the nucleosome in the 1960s and 1970s, in the current high-throughput sequencing era, DNase I has mainly been used to study genomic regions devoid of nucleosomes. Here, we reveal for ... Full text Link to item Cite

A targeted genetic association study of epithelial ovarian cancer susceptibility.

Journal Article Oncotarget · February 16, 2016 BACKGROUND: Genome-wide association studies have identified several common susceptibility alleles for epithelial ovarian cancer (EOC). To further understand EOC susceptibility, we examined previously ungenotyped candidate variants, including uncommon varia ... Full text Link to item Cite

Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer.

Journal Article Oncotarget · February 9, 2016 Women with epithelial ovarian cancer (EOC) are usually treated with platinum/taxane therapy after cytoreductive surgery but there is considerable inter-individual variation in response. To identify germline single-nucleotide polymorphisms (SNPs) that contr ... Full text Link to item Cite

Evidence of a genetic link between endometriosis and ovarian cancer.

Journal Article Fertil Steril · January 2016 OBJECTIVE: To evaluate whether endometriosis-associated genetic variation affects risk of ovarian cancer. DESIGN: Pooled genetic analysis. SETTING: University hospital. PATIENT(S): Genetic data from 46,176 participants (15,361 ovarian cancer cases and 30,8 ... Full text Link to item Cite

A Cross-Cancer Genetic Association Analysis of the DNA Repair and DNA Damage Signaling Pathways for Lung, Ovary, Prostate, Breast, and Colorectal Cancer.

Journal Article Cancer Epidemiol Biomarkers Prev · January 2016 BACKGROUND: DNA damage is an established mediator of carcinogenesis, although genome-wide association studies (GWAS) have identified few significant loci. This cross-cancer site, pooled analysis was performed to increase the power to detect common variants ... Full text Link to item Cite

DNA Methylation of Regulatory Regions of Imprinted Genes at Birth and Its Relation to Infant Temperament.

Journal Article Genet Epigenet · 2016 BACKGROUND: DNA methylation of the differentially methylated regions (DMRs) of imprinted genes is relevant to neurodevelopment. METHODS: DNA methylation status of the DMRs of nine imprinted genes in umbilical cord blood leukocytes was analyzed in relation ... Full text Link to item Cite

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Journal Article NPJ genomic medicine · January 2016 Variants of Uncertain Significance (VUS) are genetic variants whose association with a disease phenotype has not been established. They are a common finding in sequencing-based genetic tests and pose a significant clinical challenge. The objective of this ... Full text Cite

Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium.

Journal Article Clin Cancer Res · December 1, 2015 PURPOSE: Chemotherapy resistance remains a major challenge in the treatment of ovarian cancer. We hypothesize that germline polymorphisms might be associated with clinical outcome. EXPERIMENTAL DESIGN: We analyzed approximately 2.8 million genotyped and im ... Full text Link to item Cite

Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk.

Journal Article Genet Epidemiol · December 2015 Epithelial-mesenchymal transition (EMT) is a process whereby epithelial cells assume mesenchymal characteristics to facilitate cancer metastasis. However, EMT also contributes to the initiation and development of primary tumors. Prior studies that explored ... Full text Link to item Cite

Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer.

Journal Article Carcinogenesis · November 2015 Genome-wide association studies have identified 20 genomic regions associated with risk of epithelial ovarian cancer (EOC), but many additional risk variants may exist. Here, we evaluated associations between common genetic variants [single nucleotide poly ... Full text Link to item Cite

Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk.

Journal Article Cancer Epidemiol Biomarkers Prev · October 2015 BACKGROUND: Genome-wide association studies (GWAS) have so far reported 12 loci associated with serous epithelial ovarian cancer (EOC) risk. We hypothesized that some of these loci function through nearby transcription factor (TF) genes and that putative t ... Full text Link to item Cite

Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer.

Journal Article Nat Commun · September 22, 2015 Genome-wide association studies have reported 11 regions conferring risk of high-grade serous epithelial ovarian cancer (HGSOC). Expression quantitative trait locus (eQTL) analyses can identify candidate susceptibility genes at risk loci. Here we evaluate ... Full text Link to item Cite

Genome-wide significant risk associations for mucinous ovarian carcinoma.

Journal Article Nat Genet · August 2015 Genome-wide association studies have identified several risk associations for ovarian carcinomas but not for mucinous ovarian carcinomas (MOCs). Our analysis of 1,644 MOC cases and 21,693 controls with imputation identified 3 new risk associations: rs75259 ... Full text Link to item Cite

Hosts of avian brood parasites have evolved egg signatures with elevated information content.

Journal Article Proceedings. Biological sciences · July 2015 Hosts of brood-parasitic birds must distinguish their own eggs from parasitic mimics, or pay the cost of mistakenly raising a foreign chick. Egg discrimination is easier when different host females of the same species each lay visually distinctive eggs (eg ... Full text Open Access Cite

Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci.

Journal Article Hum Mol Genet · July 1, 2015 Understanding the regulatory landscape of the human genome is a central question in complex trait genetics. Most single-nucleotide polymorphisms (SNPs) associated with cancer risk lie in non-protein-coding regions, implicating regulatory DNA elements as fu ... Full text Link to item Cite

Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study.

Journal Article Gynecol Oncol · March 2015 OBJECTIVE: Ovarian cancer is a hormone-related disease with a strong genetic basis. However, none of its high-penetrance susceptibility genes and GWAS-identified variants to date are known to be involved in hormonal pathways. Given the hypothesized etiolog ... Full text Link to item Cite

Construction and analysis of the NCI-EDRN breast cancer reference set for circulating markers of disease.

Journal Article Cancer Epidemiol Biomarkers Prev · February 2015 BACKGROUND: Many circulating biomarkers have been reported for the diagnosis of breast cancer, but few, if any, have undergone rigorous credentialing using prospective cohorts and blinded evaluation. METHODS: The NCI Early Detection Research Network (EDRN) ... Full text Link to item Cite

Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Journal Article Nat Genet · February 2015 Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1 ... Full text Link to item Cite

Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk.

Journal Article PLoS One · 2015 BACKGROUND: Defective cellular transport processes can lead to aberrant accumulation of trace elements, iron, small molecules and hormones in the cell, which in turn may promote the formation of reactive oxygen species, promoting DNA damage and aberrant ex ... Full text Link to item Cite

Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).

Journal Article J Genet Genome Res · 2015 Disruption in circadian gene expression, whether due to genetic variation or environmental factors (e.g., light at night, shiftwork), is associated with increased incidence of breast, prostate, gastrointestinal and hematologic cancers and gliomas. Circadia ... Full text Link to item Cite

Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk.

Journal Article Mol Nutr Food Res · October 2014 SCOPE: We reevaluated previously reported associations between variants in pathways of one-carbon (1-C) (folate) transfer genes and ovarian carcinoma (OC) risk, and in related pathways of purine and pyrimidine metabolism, and assessed interactions with fol ... Full text Link to item Cite

A joint analysis of metabolomics and genetics of breast cancer.

Journal Article Breast Cancer Res · August 5, 2014 INTRODUCTION: Remodeling of cellular metabolism appears to be a consequence and possibly a cause of oncogenic transformation in human cancers. Specific aspects of altered tumor metabolism may be amenable to therapeutic intervention and could be coordinated ... Full text Link to item Cite

Erythrocyte folate concentrations, CpG methylation at genomically imprinted domains, and birth weight in a multiethnic newborn cohort.

Journal Article Epigenetics · August 2014 Epigenetic mechanisms are proposed to link maternal concentrations of methyl group donor nutrients with the risk of low birth weight. However, empirical data are lacking. We have examined the association between maternal folate and birth weight and assesse ... Full text Open Access Link to item Cite

ABCA transporter gene expression and poor outcome in epithelial ovarian cancer.

Journal Article J Natl Cancer Inst · July 2014 BACKGROUND: ATP-binding cassette (ABC) transporters play various roles in cancer biology and drug resistance, but their association with outcomes in serous epithelial ovarian cancer (EOC) is unknown. METHODS: The relationship between clinical outcomes and ... Full text Link to item Cite

Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.

Journal Article Hum Genet · May 2014 Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association st ... Full text Link to item Cite

Functional Annotation Signatures of Disease Susceptibility Loci Improve SNP Association Analysis

Journal Article BMC Genomics · 2014 Background Genetic association studies are conducted to discover genetic loci that contribute to an inherited trait, identify the variants behind these associations and ascertain their functional role in determining the phenotype. To date, functional anno ... Full text Open Access Cite

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

Journal Article PloS one · January 2014 Germline inactivating variants in BRCA1 lead to a significantly increased risk of breast and ovarian cancers in carriers. While the functional effect of many variants can be inferred from the DNA sequence, determining the effect of missense variants presen ... Full text Cite

Functional annotation signatures of disease susceptibility loci improve SNP association analysis

Journal Article BMC Genomics · 2014 Background: Genetic association studies are conducted to discover genetic loci that contribute to an inherited trait, identify the variants behind these associations and ascertain their functional role in determining the phenotype. To date, functional anno ... Full text Cite

Maternal stress, preterm birth, and DNA methylation at imprint regulatory sequences in humans.

Journal Article Genet Epigenet · 2014 In infants exposed to maternal stress in utero, phenotypic plasticity through epigenetic events may mechanistically explain increased risk of preterm birth (PTB), which confers increased risk for neurodevelopmental disorders, cardiovascular disease, and ca ... Full text Open Access Link to item Cite

Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report.

Journal Article Genetic epidemiology · November 2013 Cancer risk is determined by a complex interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified hundreds of common (minor allele frequency [MAF] > 0.05) and less common (0.01 < MAF < 0.05) genetic variants asso ... Full text Cite

Molecular signatures of epithelial ovarian cancer: analysis of associations with tumor characteristics and epidemiologic risk factors.

Journal Article Cancer Epidemiol Biomarkers Prev · October 2013 BACKGROUND: Six gene expression subtypes of invasive epithelial ovarian cancer were recently defined using microarrays by Tothill and colleagues. The Cancer Genome Atlas (TCGA) project subsequently replicated these subtypes and identified a signature predi ... Full text Link to item Cite

Associations between antibiotic exposure during pregnancy, birth weight and aberrant methylation at imprinted genes among offspring.

Journal Article Int J Obes (Lond) · July 2013 OBJECTIVES: Low birth weight (LBW) has been associated with common adult-onset chronic diseases, including obesity, cardiovascular disease, type II diabetes and some cancers. The etiology of LBW is multi-factorial. However, recent evidence suggests exposur ... Full text Open Access Link to item Cite

Combined and interactive effects of environmental and GWAS-identified risk factors in ovarian cancer.

Journal Article Cancer Epidemiol Biomarkers Prev · May 2013 BACKGROUND: There are several well-established environmental risk factors for ovarian cancer, and recent genome-wide association studies have also identified six variants that influence disease risk. However, the interplay between such risk factors and sus ... Full text Link to item Cite

Validation of ovarian cancer gene expression signatures for survival and subtype in formalin fixed paraffin embedded tissues.

Journal Article Gynecol Oncol · April 2013 INTRODUCTION: Gene expression signatures have been identified for epithelial ovarian cancer survival (TCGA) and intrinsic subtypes (Tothill et al.). One obstacle to clinical translation is that these signatures were developed using frozen tissue, whereas u ... Full text Link to item Cite

Vitamin D receptor (VDR) polymorphisms and risk of ovarian cancer in Caucasian and African American women.

Journal Article Gynecol Oncol · April 2013 OBJECTIVE: Polymorphisms in the vitamin D receptor (VDR) gene have been shown in some studies to be associated with the risk of epithelial ovarian cancer (EOC) in Caucasian women. There are no published reports among African Americans. METHODS: Case-contro ... Full text Link to item Cite

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.

Journal Article Nat Genet · April 2013 TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ∼480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 muta ... Full text Link to item Cite

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.

Journal Article Nat Genet · April 2013 Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide significance. We pooled data from a GWAS conducted in North America with another ... Full text Link to item Cite

Inherited variants in regulatory T cell genes and outcome of ovarian cancer.

Journal Article PLoS One · 2013 Although ovarian cancer is the most lethal of gynecologic malignancies, wide variation in outcome following conventional therapy continues to exist. The presence of tumor-infiltrating regulatory T cells (Tregs) has a role in outcome of this disease, and a ... Full text Link to item Cite

Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer.

Journal Article Nat Commun · 2013 HNF1B is overexpressed in clear cell epithelial ovarian cancer, and we observed epigenetic silencing in serous epithelial ovarian cancer, leading us to hypothesize that variation in this gene differentially associates with epithelial ovarian cancer risk ac ... Full text Link to item Cite

Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.

Journal Article Nat Commun · 2013 Epithelial ovarian cancer (EOC) has a heritable component that remains to be fully characterized. Most identified common susceptibility variants lie in non-protein-coding sequences. We hypothesized that variants in the 3' untranslated region at putative mi ... Full text Link to item Cite

Associations between antibiotic exposure during pregnancy, birth weight and aberrant methylation at imprinted genes among offspring

Journal Article International Journal of Obesity · 2013 Objectives: Low birth weight (LBW) has been associated with common adult-onset chronic diseases, including obesity, cardiovascular disease, type II diabetes and some cancers. The etiology of LBW is multi-factorial. However, recent evidence suggests exposur ... Full text Open Access Cite

ABO blood group and risk of epithelial ovarian cancer within the Ovarian Cancer Association Consortium.

Journal Article Cancer Causes Control · November 2012 PURPOSE: Previous studies have examined the association between ABO blood group and ovarian cancer risk, with inconclusive results. METHODS: In eight studies participating in the Ovarian Cancer Association Consortium, we determined ABO blood groups and dip ... Full text Link to item Cite

Charting the landscape of tandem BRCT domain-mediated protein interactions.

Journal Article Science signaling · September 2012 Eukaryotic cells have evolved an intricate system to resolve DNA damage to prevent its transmission to daughter cells. This system, collectively known as the DNA damage response (DDR) network, includes many proteins that detect DNA damage, promote repair, ... Full text Cite

Depression in pregnancy, infant birth weight and DNA methylation of imprint regulatory elements.

Journal Article Epigenetics · July 2012 Depressed mood in pregnancy has been linked to low birth weight (LBW, < 2,500 g), a risk factor for adult-onset chronic diseases in offspring. We examined maternal depressed mood in relation to birth weight and evaluated the role of DNA methylation at regu ... Full text Open Access Link to item Cite

Abstract 1678: European ancestry and ovarian cancer: Testing for their association using case control data

Journal Article Cancer Research · April 15, 2012 AbstractPopulation stratification in case-control studies can result from differences in ancestral make-up between cases and controls due to sampling variation. Ancestry is therefore routinely estimated and ... Full text Cite

Ovarian cancer risk associated with inherited inflammation-related variants.

Journal Article Cancer Res · March 1, 2012 The importance of inflammation pathways to the development of many human cancers prompted us to examine the associations between single-nucleotide polymorphisms (SNP) in inflammation-related genes and risk of ovarian cancer. In a multisite case-control stu ... Full text Link to item Cite

Gene set analysis of survival following ovarian cancer implicates macrolide binding and intracellular signaling genes.

Journal Article Cancer Epidemiol Biomarkers Prev · March 2012 BACKGROUND: Genome-wide association studies (GWAS) for epithelial ovarian cancer (EOC), the most lethal gynecologic malignancy, have identified novel susceptibility loci. GWAS for survival after EOC have had more limited success. The association of each si ... Full text Link to item Cite

Gender-specific methylation differences in relation to prenatal exposure to cigarette smoke.

Journal Article Gene · February 15, 2012 Epigenetic alterations may mechanistically explain the developmental origins of adult disease, namely the hypothesis that many complex adult chronic diseases originate as a result of conditions encountered in utero. If true, epigenetically regulated imprin ... Full text Link to item Cite

European American stratification in ovarian cancer case control data: the utility of genome-wide data for inferring ancestry.

Journal Article PLoS One · 2012 We investigated the ability of several principal components analysis (PCA)-based strategies to detect and control for population stratification using data from a multi-center study of epithelial ovarian cancer among women of European-American ethnicity. Th ... Full text Link to item Cite

Regular Multivitamin Supplement Use, Single Nucleotide Polymorphisms in ATIC, SHMT2, and SLC46A1, and Risk of Ovarian Carcinoma.

Journal Article Front Genet · 2012 ATIC, SHMT2, and SLC46A1 have essential roles in one-carbon (1-C) transfer. The authors examined whether associations between ovarian carcinoma and 15 variants in these genes are modified by regular multivitamin use, a source of 1-C donors, among Caucasian ... Full text Link to item Cite

Germline copy number variation and ovarian cancer survival.

Journal Article Front Genet · 2012 Copy number variants (CNVs) have been implicated in many complex diseases. We examined whether inherited CNVs were associated with overall survival among women with invasive epithelial ovarian cancer. Germline DNA from 1,056 cases (494 deceased, average of ... Full text Link to item Cite

Effect of hysterectomy with ovarian preservation on ovarian function.

Journal Article Obstet Gynecol · December 2011 OBJECTIVE: To prospectively estimate the risk for earlier ovarian failure among women undergoing hysterectomy with ovarian preservation, as compared with women of similar age without hysterectomy. METHODS: A prospective cohort study was conducted among wom ... Full text Link to item Cite

MicroRNA processing and binding site polymorphisms are not replicated in the Ovarian Cancer Association Consortium.

Journal Article Cancer Epidemiol Biomarkers Prev · August 2011 BACKGROUND: Single nucleotide polymorphisms (SNP) in microRNA-related genes have been associated with epithelial ovarian cancer (EOC) risk in two reports, yet associated alleles may be inconsistent across studies. METHODS: We conducted a pooled analysis of ... Full text Link to item Cite

Methylation variation at IGF2 differentially methylated regions and maternal folic acid use before and during pregnancy.

Journal Article Epigenetics · July 2011 Folic acid (FA) supplementation before and during pregnancy has been associated with decreased risk of neural tube defects although recent reports suggest it may also increase the risk of other chronic diseases. We evaluated exposure to maternal FA supplem ... Full text Open Access Link to item Cite

LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer.

Journal Article Cancer Res · June 1, 2011 Defective microRNA (miRNA) biogenesis contributes to the development and progression of epithelial ovarian cancer (EOC). In this study, we examined the hypothesis that single nucleotide polymorphisms (SNP) in miRNA biogenesis genes may influence EOC risk. ... Full text Link to item Cite

Genetic variation in insulin-like growth factor 2 may play a role in ovarian cancer risk.

Journal Article Hum Mol Genet · June 1, 2011 The insulin-like growth factor (IGF) signaling axis plays an important role in cancer biology. We hypothesized that genetic variation in this pathway may influence risk of ovarian cancer. A three-center study of non-Hispanic whites including 1880 control w ... Full text Link to item Cite

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing.

Journal Article Clin Cancer Res · June 1, 2011 PURPOSE: An assay for the single-nucleotide polymorphism (SNP), rs61764370, has recently been commercially marketed as a clinical test to aid ovarian cancer risk evaluation in women with family histories of the disease. rs67164370 is in a 3'-UTR miRNA bind ... Full text Link to item Cite

Inherited variants in mitochondrial biogenesis genes may influence epithelial ovarian cancer risk.

Journal Article Cancer Epidemiol Biomarkers Prev · June 2011 BACKGROUND: Mitochondria contribute to oxidative stress, a phenomenon implicated in ovarian carcinogenesis. We hypothesized that inherited variants in mitochondrial-related genes influence epithelial ovarian cancer (EOC) susceptibility. METHODS: Through a ... Full text Link to item Cite

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

Journal Article Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · June 2011 BackgroundBesides revealing cancer predisposition variants or the absence of any changes, genetic testing for cancer predisposition genes can also identify variants of uncertain clinical significance (VUS). Classifying VUSs is a pressing problem, ... Full text Cite

Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer.

Journal Article Int J Cancer · May 1, 2011 Common germline genetic variation in the population is associated with susceptibility to epithelial ovarian cancer. Microcell-mediated chromosome transfer and expression microarray analysis identified nine genes associated with functional suppression of tu ... Full text Link to item Cite

Epigenetic suppression of the TGF-beta pathway revealed by transcriptome profiling in ovarian cancer.

Journal Article Genome Res · January 2011 Epithelial ovarian cancer is the leading cause of death among gynecologic malignancies. Diagnosis usually occurs after metastatic spread, largely reflecting vague symptoms of early disease combined with lack of an effective screening strategy. Epigenetic m ... Full text Link to item Cite

Polymorphisms in stromal genes and susceptibility to serous epithelial ovarian cancer: a report from the Ovarian Cancer Association Consortium.

Journal Article PLoS One · 2011 Alterations in stromal tissue components can inhibit or promote epithelial tumorigenesis. Decorin (DCN) and lumican (LUM) show reduced stromal expression in serous epithelial ovarian cancer (sEOC). We hypothesized that common variants in these genes associ ... Full text Link to item Cite

A latent model for prioritization of SNPs for functional studies.

Journal Article PloS one · January 2011 One difficult question facing researchers is how to prioritize SNPs detected from genetic association studies for functional studies. Often a list of the top M SNPs is determined based on solely the p-value from an association analysis, where M is determin ... Full text Cite

Evaluation of established breast cancer risk factors as modifiers of BRCA1 or BRCA2: a multi-center case-only analysis.

Journal Article Breast Cancer Res Treat · November 2010 The incomplete penetrance of mutations in BRCA1 and BRCA2 suggests that some combination of environmental and genetic factors modifies the risk of breast cancer in mutation carriers. This study sought to identify possible interactions between established b ... Full text Link to item Cite

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

Journal Article Nat Genet · October 2010 Ovarian cancer accounts for more deaths than all other gynecological cancers combined. To identify common low-penetrance ovarian cancer susceptibility genes, we conducted a genome-wide association study of 507,094 SNPs in 1,768 individuals with ovarian can ... Full text Link to item Cite

Common variants at 19p13 are associated with susceptibility to ovarian cancer.

Journal Article Nat Genet · October 2010 Epithelial ovarian cancer (EOC) is the leading cause of death from gynecological malignancy in the developed world, accounting for 4% of the deaths from cancer in women. We performed a three-phase genome-wide association study of EOC survival in 8,951 indi ... Full text Link to item Cite

BAYESIAN MODEL SEARCH AND MULTILEVEL INFERENCE FOR SNP ASSOCIATION STUDIES.

Journal Article Ann Appl Stat · September 1, 2010 Technological advances in genotyping have given rise to hypothesis-based association studies of increasing scope. As a result, the scientific hypotheses addressed by these studies have become more complex and more difficult to address using existing analyt ... Full text Open Access Link to item Cite

Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".

Journal Article PLoS Genet · July 8, 2010 We hypothesized that variants in genes expressed as a consequence of interactions between ovarian cancer cells and the host micro-environment could contribute to cancer susceptibility. We therefore used a two-stage approach to evaluate common single nucleo ... Full text Link to item Cite

Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".

Journal Article PLoS genetics · July 1, 2010 We hypothesized that variants in genes expressed as a consequence of interactions between ovarian cancer cells and the host micro-environment could contribute to cancer susceptibility. We therefore used a two-stage approach to evaluate common single nucleo ... Cite

Expression signatures of TP53 mutations in serous ovarian cancers.

Journal Article BMC Cancer · May 26, 2010 BACKGROUND: Mutations in the TP53 gene are extremely common and occur very early in the progression of serous ovarian cancers. Gene expression patterns that relate to mutational status may provide insight into the etiology and biology of the disease. METHO ... Full text Open Access Link to item Cite

Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.

Journal Article PLoS One · April 8, 2010 BACKGROUND: We analyzed the association between 53 genes related to DNA repair and p53-mediated damage response and serous ovarian cancer risk using case-control data from the North Carolina Ovarian Cancer Study (NCOCS), a population-based, case-control st ... Full text Open Access Link to item Cite

Variation at 8q24 and 9p24 and risk of epithelial ovarian cancer.

Journal Article Twin Res Hum Genet · February 2010 The chromosome 8q24 region (specifically, 8q24.21.a) is known to harbor variants associated with risk of breast, colorectal, prostate, and bladder cancers. In 2008, variants rs10505477 and rs6983267 in this region were associated with increased risk of inv ... Full text Link to item Cite

Polymorphism in the GALNT1 gene and epithelial ovarian cancer in non-Hispanic white women: the Ovarian Cancer Association Consortium.

Journal Article Cancer Epidemiol Biomarkers Prev · February 2010 Aberrant glycosylation is a well-described hallmark of cancer. In a previous ovarian cancer case control study that examined polymorphisms in 26 glycosylation-associated genes, we found strong statistical evidence (P = 0.00017) that women who inherited two ... Full text Link to item Cite

Risk of ovarian cancer and inherited variants in relapse-associated genes.

Journal Article PLoS One · January 27, 2010 BACKGROUND: We previously identified a panel of genes associated with outcome of ovarian cancer. The purpose of the current study was to assess whether variants in these genes correlated with ovarian cancer risk. METHODS AND FINDINGS: Women with and withou ... Full text Open Access Link to item Cite

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.

Journal Article Nat Genet · September 2009 Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk. We performed a genome-wide association study (GWAS) to identify common ovarian cancer susceptibility alleles. We ... Full text Link to item Cite

Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study.

Journal Article Hum Mol Genet · June 15, 2009 Because both ovarian and breast cancer are hormone-related and are known to have some predisposition genes in common, we evaluated 11 of the most significant hits (six with confirmed associations with breast cancer) from the breast cancer genome-wide assoc ... Full text Link to item Cite

A prospective study of weight gain after premenopausal hysterectomy.

Journal Article J Womens Health (Larchmt) · May 2009 PURPOSE: Many women who have had hysterectomies have the perception that they gained weight after surgery that cannot be attributed to changes in diet or physical activity. The purpose of this analysis was to assess weight gain in premenopausal women in th ... Full text Link to item Cite

Microarray analysis of early stage serous ovarian cancers shows profiles predictive of favorable outcome.

Journal Article Clin Cancer Res · April 1, 2009 PURPOSE: Although few women with advanced serous ovarian cancer are cured, detection of the disease at an early stage is associated with a much higher likelihood of survival. We previously used gene expression array analysis to distinguish subsets of advan ... Full text Link to item Cite

Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer.

Journal Article Cancer Res · March 15, 2009 The p53 protein is critical for multiple cellular functions including cell growth and DNA repair. We assessed whether polymorphisms in the region encoding TP53 were associated with risk of invasive ovarian cancer. The study population includes a total of 5 ... Full text Link to item Cite

Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium.

Journal Article Br J Cancer · January 27, 2009 The search for genetic variants associated with ovarian cancer risk has focused on pathways including sex steroid hormones, DNA repair, and cell cycle control. The Ovarian Cancer Association Consortium (OCAC) identified 10 single-nucleotide polymorphisms ( ... Full text Link to item Cite

A branching process model for flow cytometry and budding index measurements in cell synchrony experiments.

Journal Article The annals of applied statistics · January 2009 We present a flexible branching process model for cell population dynamics in synchrony/time-series experiments used to study important cellular processes. Its formulation is constructive, based on an accounting of the unique cohorts in the population as t ... Full text Open Access Cite

Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.

Journal Article Cancer Epidemiol Biomarkers Prev · December 2008 Over 22,000 cases of ovarian cancer were diagnosed in 2007 in the United States, but only a fraction of them can be attributed to mutations in highly penetrant genes such as BRCA1. To determine whether low-penetrance genetic variants contribute to ovarian ... Full text Link to item Cite

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

Journal Article Human mutation · November 2008 Genetic testing often results in the finding of a variant whose clinical significance is unknown. A number of different approaches have been employed in the attempt to classify such variants. For some variants, case-control, segregation, family history, or ... Full text Cite

Multiple model evaluation absent the gold standard through model combination

Journal Article Journal of the American Statistical Association · September 1, 2008 We describe a method for evaluating an ensemble of predictive models given a sample of observations comprising the model predictions and the outcome event measured with error. Our formulation allows us to simultaneously estimate measurement error parameter ... Full text Cite

Global control of cell-cycle transcription by coupled CDK and network oscillators.

Journal Article Nature · June 2008 A significant fraction of the Saccharomyces cerevisiae genome is transcribed periodically during the cell division cycle, indicating that properly timed gene expression is important for regulating cell-cycle events. Genomic analyses of the localization and ... Full text Cite

Weight gain after pre-menopausal hysterectomy

Conference AMERICAN JOURNAL OF EPIDEMIOLOGY · June 1, 2008 Link to item Cite

Hormonal risk factors for ovarian cancer in premenopausal and postmenopausal women.

Journal Article Am J Epidemiol · May 1, 2008 Ovarian cancer is most frequently diagnosed in postmenopausal women; however, the strongest risk predictors, pregnancy and oral contraceptive use, occur in most women in their twenties and thirties. Relatively few studies have examined how reproductive ris ... Full text Link to item Cite

Association of single nucleotide polymorphisms in glycosylation genes with risk of epithelial ovarian cancer.

Journal Article Cancer Epidemiol Biomarkers Prev · February 2008 Studies suggest that underglycosylation of the cell membrane mucin MUC1 may be associated with epithelial ovarian cancer. We identified 26 genes involved in glycosylation and examined 93 single nucleotide polymorphisms (SNP) with a minor allele frequency o ... Full text Link to item Cite

Limited family structure and breast cancer risk [7]

Journal Article JAMA · November 7, 2007 Cite

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

Journal Article American journal of human genetics · November 2007 Mutation screening of the breast and ovarian cancer-predisposition genes BRCA1 and BRCA2 is becoming an increasingly important part of clinical practice. Classification of rare nontruncating sequence variants in these genes is problematic, because it is no ... Full text Cite

Validity of models for predicting BRCA1 and BRCA2 mutations.

Journal Article Ann Intern Med · October 2, 2007 BACKGROUND: Deleterious mutations of the BRCA1 and BRCA2 genes confer susceptibility to breast and ovarian cancer. At least 7 models for estimating the probabilities of having a mutation are used widely in clinical and scientific activities; however, the m ... Full text Link to item Cite

Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer.

Journal Article Cancer Res · April 1, 2007 High-risk susceptibility genes explain <40% of the excess risk of familial ovarian cancer. Therefore, other ovarian cancer susceptibility genes are likely to exist. We have used a single nucleotide polymorphism (SNP)-tagging approach to evaluate common var ... Full text Link to item Cite

Trinucleotide repeat polymorphisms in the androgen receptor gene and risk of ovarian cancer.

Journal Article Cancer Epidemiol Biomarkers Prev · March 2007 INTRODUCTION: Androgens may play a role in the development of ovarian cancers. Two trinucleotide repeat polymorphisms have been described in exon 1 of the androgen receptor (AR) gene that may affect its function. Previous studies of ovarian cancer and AR r ... Full text Link to item Cite

A probabilistic model for cell cycle distributions in synchrony experiments.

Journal Article Cell cycle (Georgetown, Tex.) · February 2007 Synchronized populations of cells are often used to study dynamic processes during the cell division cycle. However, the analysis of time series measurements made on synchronized populations is confounded by the fact that populations lose synchrony over ti ... Full text Cite

Validity of models for prediction of BRCA1 and BRCA2 mutations

Journal Article Annals of Internal Medicine · 2007 Cite

In reply [8]

Journal Article Journal of Clinical Oncology · July 10, 2006 Full text Cite

Characterization of BRCA1 and BRCA2 mutations in a large United States sample.

Journal Article J Clin Oncol · February 20, 2006 PURPOSE: An accurate evaluation of the penetrance of BRCA1 and BRCA2 mutations is essential to the identification and clinical management of families at high risk of breast and ovarian cancer. Existing studies have focused on Ashkenazi Jews (AJ) or on fami ... Full text Link to item Cite

Gene expression profiling and genetic markers in glioblastoma survival.

Journal Article Cancer Res · May 15, 2005 Despite the strikingly grave prognosis for older patients with glioblastomas, significant variability in patient outcome is experienced. To explore the potential for developing improved prognostic capabilities based on the elucidation of potential biologic ... Full text Link to item Cite

Patterns of gene expression that characterize long-term survival in advanced stage serous ovarian cancers.

Journal Article Clin Cancer Res · May 15, 2005 PURPOSE: A better understanding of the underlying biology of invasive serous ovarian cancer is critical for the development of early detection strategies and new therapeutics. The objective of this study was to define gene expression patterns associated wi ... Full text Link to item Cite

Classification of Missense Mutations of Disease Genes.

Journal Article Journal of the American Statistical Association · January 2005 Clinical management of individuals found to harbor a mutation at a known disease-susceptibility gene depends on accurate assessment of mutation-specific disease risk. For missense mutations (MMs)-mutations that lead to a single amino acid change in the pro ... Full text Cite

Population-Calibrated Gene Characterization: Estimating Age at Onset Distributions Associated With Cancer Genes.

Journal Article Journal of the American Statistical Association · January 2005 Phenotypic characterization of rare disease genes poses a significant statistical challenge, but the need to do so is clear. Clinical management of patients carrying a disease gene depends crucially on an accurate characterization of the genetically predis ... Full text Cite

Gene expression phenotypes of atherosclerosis.

Journal Article Arterioscler Thromb Vasc Biol · October 2004 OBJECTIVE: Fulfilling the promise of personalized medicine by developing individualized diagnostic and therapeutic strategies for atherosclerosis will depend on a detailed understanding of the genes and gene variants that contribute to disease susceptibili ... Full text Link to item Cite

Integrated modeling of clinical and gene expression information for personalized prediction of disease outcomes.

Journal Article Proc Natl Acad Sci U S A · June 1, 2004 We describe a comprehensive modeling approach to combining genomic and clinical data for personalized prediction in disease outcome studies. This integrated clinicogenomic modeling framework is based on statistical classification tree models that evaluate ... Full text Link to item Cite

Prediction of optimal versus suboptimal cytoreduction of advanced-stage serous ovarian cancer with the use of microarrays.

Journal Article Am J Obstet Gynecol · April 2004 OBJECTIVE: The purpose of this study was to define gene expression patterns that are associated with the optimal versus suboptimal debulking of advanced-stage serous ovarian cancers. STUDY DESIGN: RNA from 44 advanced serous ovarian cancers (19 optimal, 25 ... Full text Link to item Cite

Gene expression predictors of breast cancer outcomes.

Journal Article Lancet · May 10, 2003 BACKGROUND: Correlation of risk factors with genomic data promises to provide specific treatment for individual patients, and needs interpretation of complex, multivariate patterns in gene expression data, as well as assessment of their ability to improve ... Full text Link to item Cite

BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes.

Journal Article Journal of clinical oncology : official journal of the American Society of Clinical Oncology · June 2002 PurposeTo compare genetic test results for deleterious mutations of BRCA1 and BRCA2 with estimated probabilities of carrying such mutations; to assess sensitivity of genetic testing; and to assess the relevance of other susceptibility genes in fam ... Full text Cite

Spatially disaggregated real estate indices

Journal Article Journal of Business and Economic Statistics · July 1, 2001 A spatial-temporal Markov random-field model is used to produce indices for residential real estate from repeat home sale data. A set of regions is represented by a graph in which neighboring regions are linked. This graph, repeated consecutively a number ... Full text Cite

Genetic Susceptibility and Survival: Application to Breast Cancer

Journal Article Journal of the American Statistical Association · March 1, 2000 Inherited mutations of the BRCA1 and BRCA2 genes are known to confer an elevated risk of both breast and ovarian cancers. The effect of carrying such a mutation on survival after developing breast or ovarian cancer is less well understood. We investigate t ... Full text Cite

Effect of BRCA1 and BRCA2 on the association between breast cancer risk and family history.

Journal Article J Natl Cancer Inst · December 2, 1998 BACKGROUND: The discovery of BRCA1 and BRCA2 has led to a reassessment of the association between family history of breast/ovarian cancer and breast cancer risk after controlling for carrier status for mutations in the BRCA1 and BRCA2 genes. We examined wh ... Full text Link to item Cite

A statistical technique for validating velocity models

Journal Article Bulletin of the Seismological Society of America · December 1, 1996 This study investigates the use of a station influence statistic to identify velocity model shortcomings in the earthquake hypocenter location problem. Two groups of microearthquake events are examined. The first is a group of 81 events from the Mount St. ... Cite

A statistical technique for validating velocity models

Journal Article Bulletin of the Seismological Society of America · 1996 Cite