학술논문
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement
Document Type
article
Author
Mathias Schwartz; Sabrina Ibadioune; Sophie Vacher; Marie-Charlotte Villy; Olfa Trabelsi-Grati; Jessica Le Gall; Sandrine M. Caputo; Hélène Delhomelle; Mathilde Warcoin; Virginie Moncoutier; Christine Bourneix; Nadia Boutry-Kryza; Antoine De Pauw; Marc-Henri Stern; Bruno Buecher; Emmanuelle Mouret-Fourme; Chrystelle Colas; Dominique Stoppa-Lyonnet; Julien Masliah-Planchon; Lisa Golmard; Ivan Bieche
Source
Breast, Vol 73, Iss , Pp 103620- (2024)
Subject
Language
English
ISSN
1532-3080
Abstract
Breast cancers (BC) are rare in men and are often caused by constitutional predisposing factors. In women, mosaic BRCA1 promoter methylations (MBPM) are frequent events, detected in 4–8% of healthy subjects. This constitutional epimutation increases risk of early-onset and triple-negative BC. However, the role of MBPM in male BC predisposition has never been assessed. We screened 40 blood samples from men affected by BC, and performed extensive tumour analysis on MBPM-positive patients. We detected two patients carrying MBPM. Surprisingly, tumour analysis revealed that neither of these two male BCs were caused by the constitutional BRCA1 epimutations carried by the patients.