David E. Goldgar

Association of Gene Variant Type and Location with Breast Cancer Risk in the General Population

Mwangala P. Akamandisa, Nicholas Boddicker, Siddhartha Yadav, Chunling Hu et autres

Abstract Importance Pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2 , and PALB2 are associated with increased breast cancer risk. However, it is unknown whether breast cancer risk differs by PV type or location in carriers ascertained from the general population. Objective …

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Data from Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

Marcelo A. Carvalho, Sylvia M. Marsillac, Rachel Karchin, Siranoush Manoukian et autres

Abstract Germ line inactivating mutations in BRCA1 confer susceptibility for breast and ovarian cancer. However, the relevance of the many missense changes in the gene for which the effect on protein function is unknown remains unclear. Determination of which variants are causally …

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Supplementary Figure S1 from Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

Marcelo A. Carvalho, Sylvia M. Marsillac, Rachel Karchin, Siranoush Manoukian et autres

Supplementary Figure S1 from Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

Supplementary Figure S1 from Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

Marcelo A. Carvalho, Sylvia M. Marsillac, Rachel Karchin, Siranoush Manoukian et autres

Supplementary Figure S1 from Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

Data from Determination of Cancer Risk Associated with Germ Line BRCA1 Missense Variants by Functional Analysis

Marcelo A. Carvalho, Sylvia M. Marsillac, Rachel Karchin, Siranoush Manoukian et autres

Abstract Germ line inactivating mutations in BRCA1 confer susceptibility for breast and ovarian cancer. However, the relevance of the many missense changes in the gene for which the effect on protein function is unknown remains unclear. Determination of which variants are causally …

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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A. O’Mara et autres

Abstract Breast cancer (BC) risk forBRCA1andBRCA2mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may …

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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Gisella Figlioli, Massimo Bogliolo, Irene Catucci, Laura Caleca et autres

Abstract Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed …

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Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Sarah M. Nielsen, Iris L. Romero, Fahd Al‐Mulla, Judith Balmañà et autres

Purpose To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, covering questions about 16 …

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Genetic testing and clinical management practices for variants in non-BRCA1/2 breast (and/or ovarian) cancer susceptibility genes: An international survey by the Enigma Clinical Working Group.

Sarah M. Nielsen, Arcangela De Nicolo, Diana Eccles, Iris L. Romero et autres

1539 Background: Advances in massively parallel sequencing technologies have made multigene panels affordable and have revolutionized genetic testing for hereditary breast and ovarian cancer. Through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, we conducted a survey regarding …

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The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Setareh Moghadasi, Huong Meeks, Maaike P.G. Vreeswijk, Linda AM Janssen et autres

Background We previously showed that the BRCA1 variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up …

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

Catherine M. Phelan, Karoline Kuchenbaecker, Jonathan P. Tyrer, Siddhartha Kar et autres

Paul Pharoah and colleagues report the results of a large genome-wide association study of ovarian cancer. They identify new susceptibility loci for different epithelial ovarian cancer histotypes and use integrated analyses of genes and regulatory features at each locus to predict candidate …

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

Sophie Blein, Claire Bardel, Vincent Danjean, Lesley McGuffog et autres

INTRODUCTION: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a …

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