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Article

Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees.

Journal of medical genetics - 21 Feb 2024

Schwartz Mathias, Ibadioune Sabrina, Chansavang Albain, Vacher Sophie, Caputo Sandrine M, Delhomelle Hélène, Wong Jennifer, Abidallah Khadija, Moncoutier Virginie, Becette Véronique, Popova Tatiana, Suybeng Voreak, De Pauw Antoine, Stern Marc-Henri, Colas Chrystelle, Mouret-Fourme Emmanuelle, Stoppa-Lyonnet Dominique, Golmard Lisa, Bieche Ivan, Masliah-Planchon Julien

Abstract excerpt

PURPOSE: Mosaic BRCA1 promoter methylation (BRCA1meth) increases the risk of early-onset breast cancer, triple-negative breast cancer and ovarian cancer. As mosaic BRCA1meth are believed to occur de novo, their role in family breast/ovarian cancer has not been assessed. PATIENTS: Blood-derived DNA from 20 unrelated affected cases from families with aggregation of breast/ovarian cancer, but with no germline...

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Identifiers

PMID: 37748860
DOI: 10.1136/jmg-2023-109325

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