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List of works by Catherine M Phelan

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

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

scientific article

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

scientific article published on 19 September 2010

A high frequency of BRCA mutations in young black women with breast cancer residing in Florida

scientific article

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

scientific article

A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families

scientific article

A targeted genetic association study of epithelial ovarian cancer susceptibility

scientific article published on February 2016

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

scientific article

Absence of constitutional H2AX gene mutations in 101 hereditary breast cancer families

scientific article

Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study

scientific article published on 10 July 2016

Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study

scientific article published on 20 March 2018

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome

scientific article published on 19 March 2013

Assessing the genetic architecture of epithelial ovarian cancer histological subtypes

scientific article

Assessment of hepatocyte growth factor in ovarian cancer mortality

scientific article

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

scientific article published on 21 June 2016

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

scientific article

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

scientific article published in February 2008

Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study

scientific article published on 4 September 2016

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

scientific article

BRCA2 mutations in primary breast and ovarian cancers

scientific article

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

Cancer variation associated with the position of the mutation in the BRCA2 gene

scientific article published in January 2004

Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk

scientific article published on 03 March 2009

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Chemoprevention in African American Men With Prostate Cancer

scientific article

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

scientific article published on 22 September 2015

Classification of BRCA1 missense variants of unknown clinical significance

scientific article

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

scientific article published on 19 June 2015

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

scientific article

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

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

scientific article

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

scientific article

Common variation in Nemo-like kinase is associated with risk of ovarian cancer

scientific article published on 17 January 2012

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

scientific article

Consortium study on 1280 breast carcinomas: allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters

scientific article published on 01 March 1998

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

Cross Cancer Genomic Investigation of Inflammation Pathway for Five Common Cancers: Lung, Ovary, Prostate, Breast, and Colorectal Cancer

scientific article

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Defining etiologic heterogeneity in breast cancer using genetic biomarkers.

scientific article published on January 1997

Differences in BRCA counseling and testing practices based on ordering provider type

scientific article

Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci

scientific article published on 19 January 2017

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

scientific article published in 2013

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

scientific article

Erratum: Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer

scholarly article published in Nature Genetics

Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study

scientific article published on 17 December 2014

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

scientific article

Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium

scientific article

Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas

article

Exclusion of the phosphoinositide-specific phospholipase C?3 ( PLCB3 ) gene as a candidate for multiple endocrine neoplasia type 1

scientific article published on 3 December 1996

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

scientific article published on 4 July 2016

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study

scientific article published in April 2008

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

scientific article

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

scientific article published on 7 September 2016

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

scientific article published on April 2013

Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk

scientific article published on 17 December 2018

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

scientific article published in September 2016

Genome-wide association studies identify susceptibility loci for epithelial ovarian cancer in east Asian women

scientific article published on 19 March 2019

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

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

scientific article published on 5 November 2013

Genome-wide significant risk associations for mucinous ovarian carcinoma

scientific article published on 15 June 2015

Germline copy number variation and ovarian cancer survival

scientific article

Global ovarian cancer health disparities ⬇️

scientific article published on December 22, 2012

Global patterns of prostate cancer incidence, aggressiveness, and mortality in men of african descent

scientific article published on 13 February 2013

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

High grade prostate intraepithelial neoplasia (PIN) is a PSA-independent risk factor for prostate cancer in African American men: Results from a pilot study ⬇️

scientific article published on December 23, 2012

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

scientific article published on January 2013

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

scientific article

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Impedance-Based Miniaturized Biosensor for Ultrasensitive and Fast Prostate-Specific Antigen Detection

Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study

scientific article

Inherited determinants of ovarian cancer survival

scientific article

Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration

scientific article published on July 2016

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

scientific article

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

scientific article

Inherited variation in circadian rhythm genes and risks of prostate cancer and three other cancer sites in combined cancer consortia

scientific article published on 12 July 2017

Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci

scientific article

Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer

scientific article

Kernel canonical correlation analysis for assessing gene-gene interactions and application to ovarian cancer

scientific article published on 17 April 2013

LIN28B polymorphisms influence susceptibility to epithelial ovarian cancer

scientific article published on 11 April 2011

Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome

scientific article published on 27 January 2014

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

scientific article (publication date: May 2002)

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

scientific article published on 2 June 2011

Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes

scientific article

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

scientific article published on April 2013

Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families

scientific article published in May 1996

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

scientific article

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

Ovarian cancer risk associated with inherited inflammation-related variants

scientific article published on 26 January 2012

Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus

scientific article published on 01 March 1996

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

scientific article published in December 2016

Pelvic Inflammatory Disease and the Risk of Ovarian Cancer and Borderline Ovarian Tumors: A Pooled Analysis of 13 Case-Control Studies

scientific article published on 9 December 2016

Performance of amplified DNA in an Illumina GoldenGate BeadArray assay

scientific article published on July 2008

Polycystic ovary syndrome, oligomenorrhea, and risk of ovarian cancer histotypes: Evidence from the Ovarian Cancer Association Consortium

scientific article published on 15 November 2017

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

scientific article

Polymorphisms in NF-kappaB inhibitors and risk of epithelial ovarian cancer

scientific article

Polymorphisms in TCEAL7 and risk of epithelial ovarian cancer

scientific article published on 05 May 2009

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

scientific article published on 27 May 2011

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer

scientific article published on 4 November 2014

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

scientific article published on 19 March 2012

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

scientific article

Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10

scientific article published on 22 November 2013

Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

scientific article published on 30 July 2015

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

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

scientific article published on 10 March 2009

Telomere structure and maintenance gene variants and risk of five cancer types

scientific article published on 15 December 2016

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

scientific article published on 03 October 2016

The human mammary-derived growth inhibitor (MDGI) gene: genomic structure and mutation analysis in human breast tumors

scientific article

The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study

scientific article published on 17 March 2016

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

scientific article published on 8 March 2011

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

scientific article published in PLoS ONE

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

scientific article

Variation in HNF1B and Obesity May Influence Prostate Cancer Risk in African American Men: A Pilot Study.

scientific article published on 09 December 2013

Variation in NF-κB signaling pathways and survival in invasive epithelial ovarian cancer

scientific article published on 16 April 2014

Xenobiotic-Metabolizing gene polymorphisms and ovarian cancer risk

scientific article

miRNAs associated with prostate cancer risk and progression

scientific article

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

scientific article published on 21 August 2018

seXY: a tool for sex inference from genotype arrays

scientific article published on 28 December 2016

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