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Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

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ENIGMA—Evidence‐based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

Sue Healey, Paolo Radice, Andrew Devereau, 2012, Human mutation.

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

F. Couch, A. Spurdle, S. Lakhani, 2007, Breast Cancer Research.

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.

Douglas F. Easton, Daniel Barrowdale, Sue Healey, 2012, JAMA.

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

Peter Devilee, Alfons Meindl, Lesley McGuffog, 2010, Breast Cancer Research.

HER3 and downstream pathways are involved in colonization of brain metastases from breast cancer

Stephen Fox, Sue Healey, Brent Reynolds, 2010, Breast Cancer Research.

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

Dong Liang, Patrick Neven, Harvey Risch, 2016, Journal of the National Cancer Institute.

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region

J. Crolla, N. S. Thomas, S. Healey, 1999, Human Genetics.

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.

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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

F. Couch, J. Benítez, A. Spurdle, 2012, Journal of Medical Genetics.

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

Sue Healey, Diana M Eccles, Fergus J Couch, 2010, Human mutation.

University of Groningen Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk Couch,

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Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer

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

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Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

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Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

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Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families

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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

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Distinct phenotype in maternal uniparental disomy of chromosome 14.

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A second case of intrauterine growth retardation and primary hypospadias associated with a trisomy 22 placenta but with biparental inheritance of chromosome 22 in the fetus

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Analysis of the transcription regulator, CNOT7, as a candidate chromosome 8 tumor suppressor gene in colorectal cancer

G. Chenevix-Trench, V. Whitehall, Joanne P Young, 2003, International journal of cancer.

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

Jane E. Carpenter, A. Whittemore, W. Chung, 2016, Nature Communications.

Mapping of a candidate colorectal cancer tumor‐suppressor gene to a 900‐kilobase region on the short arm of chromosome 8

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

Sandra L. Halverson, A. Whittemore, L. Kiemeney, 2016, Gynecologic oncology.

Pathology of Breast andOvarian Cancers among BRCA 1 and BRCA 2 Mutation Carriers : Results from the Consortium of Investigators of Modi fi ers of BRCA 1 / 2 ( CIMBA )

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Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

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Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

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A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers

W. Chung, V. Pankratz, F. Couch, 2012, Cancer Epidemiology, Biomarkers & Prevention.

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

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Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

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Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers.

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Mutation analysis of RAD51L1 (RAD51B/REC2) in multiple-case, non-BRCA1/2 breast cancer families

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

Jane E. Carpenter, A. Whittemore, S. Cross, 2016, Breast Cancer Research.

Syddansk Universitet Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12 p 11 locus

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Breast cancer risk variants at 6 q 25 display different phenotype associations and regulate ESR 1 , RMND 1 and CCDC 170

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

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Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2015, PloS one.

Title Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA 1 and BRCA 2 mutation carriers

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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

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Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

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Interplay between BRCA1 and RHAMM Regulates Epithelial Apicobasal Polarization and May Influence Risk of Breast Cancer

Marc Vidal, Dieter Niederacher, Roderic Guigó, 2011, PLoS biology.

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Mutation analysis of five candidate genes in familial breast cancer

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HER 3 and downstream pathways are involved in colonization of brain metastases from breast cancer

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Is fragile X syndrome a risk factor for dizygotic twinning?

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Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

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Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

W. Chung, R. Nussbaum, D. Steinemann, 2014, Cancer Epidemiology, Biomarkers & Prevention.

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No evidence that GATA3 rs570613 SNP modifies breast cancer risk

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Evidence for SMAD 3 as a modifier of breast cancer risk in BRCA 2 mutation carriers

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Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques.

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The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

F. Couch, D. Easton, K. Offit, 2012, Breast Cancer Research and Treatment.

Height Discordance in Monozygotic Females is not Attributable to Discordant Inactivation of X-linked Stature Determining Genes

I. Glass, A. Heath, K. Kirk, 2001, Twin Research.

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.

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Spinocerebellar ataxia type 7: A distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation

J. Christodoulou, S. Healey, JR Grigg, 2001, Journal of paediatrics and child health.

Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci

J. MacMillan, S. Healey, N. G. Martin, 1999, Journal of medical genetics.

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Exclusion of APC and MCC as the With Familial Juvenile Polyposis Gene Defect in One Family

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

Jane E. Carpenter, A. Whittemore, S. Cross, 2016, Breast Cancer Research.

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.

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Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

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Common variants at 12 p 11 , 12 q 24 , 9 p 21 , 9 q 31 . 2 and in ZNF 365 are associated with breast cancer risk for BRCA 1 and / or BRCA 2 mutation carriers

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University of Groningen Identification of a BRCA 2-Specific Modifier Locus at 6 p 24 Related to Breast Cancer

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Common Genetic Variation at BARD1 Is Not Associated with Breast Cancer Risk in BRCA1 or BRCA2 Mutation Carriers

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Null Results in Brief Common Genetic Variation at BARD 1 Is Not Associated with Breast Cancer Risk in BRCA 1 or BRCA 2 Mutation Carriers

O. Olopade, T. Rebbeck, R. Eeles, 2011 .

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

A. Whittemore, S. Cross, R. Nussbaum, 2016, Breast Cancer Research.

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

Sebastian M. Armasu, Jaana M. Hartikainen, A. Whittemore, 2013, Nature Genetics.

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

Sandra L. Halverson, A. Whittemore, L. Kiemeney, 2016, Gynecologic oncology.

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

G. Chenevix-Trench, L. McGuffog, M. Genuardi, 2015 .

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

V. Pankratz, F. Couch, T. Rebbeck, 2011, Human molecular genetics.

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

F. Couch, B. Bonanni, J. Benítez, 2009, Human molecular genetics.

Peer Reviewed Title

B. Bonanni, O. Olopade, B. Karlan, 2012 .

Common Variants in Lsp1, 2q35 and 8q24 and Breast Cancer Risk for Brca1 and Brca2 Mutation Carriers and on Behalf of Cimba

A. Spurdle, A. Antoniou, G. Chenevix-Trench, 2022 .

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

A. Whittemore, F. Couch, B. Bonanni, 2015 .

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

A. Whittemore, D. Steinemann, F. Couch, 2014, PLoS genetics.

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

Jane E. Carpenter, Jaana M. Hartikainen, A. Whittemore, 2016, Breast Cancer Research.