High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer

High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer

Abstract Between 5 and 8% of the general population carry a constitutional methylation of the BRCA1 promoter (“epimutation”). Several studies have suggested that these BRCA1 epimutations confer an increased risk of breast cancer, in particular triple-negative breast cancer (TNBC), with an earlier on...

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Main Authors: Mathias Schwartz, Sabrina Ibadioune, Hélène Delhomelle, Solenn Barraud, Sandrine M. Caputo, Olfa Trabelsi-Grati, Marie-Charlotte Villy, Anthony Laugé, Roseline Tang, Etienne Rouleau, Emmanuelle Mouret-Fourme, Dominique Stoppa-Lyonnet, Éric Pasmant, Lisa Golmard, Chrystelle Colas, Ivan Bièche
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Clinical Epigenetics
Subjects:
HBOC
Methylation
Promoter
Cancer predisposition
Epimutation
Constitutional epimutation
Online Access:https://doi.org/10.1186/s13148-025-01885-1
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https://doi.org/10.1186/s13148-025-01885-1

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