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Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition.

Scientific reports - 19 Aug 2020

Agata Simona, Tognazzo Silvia, Alducci Elisa, Matricardi Laura, Moserle Lidia, Barana Daniela, Montagna Marco

Abstract excerpt

Classification of variants in the BRCA1 and BRCA2 genes has a major impact on the clinical management of subjects at high risk for breast and ovarian cancer. The identification of a pathogenic variant allows for early detection/prevention strategies in healthy carriers as well as targeted treatments in patients affected by BRCA-associated tumors. The BRCA2 c.9227G>T p.(Gly3076Val) variant recurs in families from...

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Identifiers

PMID: 32814805
DOI: 10.1038/s41598-020-70729-0
PMCID: PMC7438490

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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