Breast (Feb 2024)
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement
- 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
Affiliations
- Mathias Schwartz
- Department of genetics, Curie Institute, Paris, France; UMR3244, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France; Corresponding author. Department of Genetics, Institut Curie 26 rue d’Ulm, 75005, Paris, France.
- Sabrina Ibadioune
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Sophie Vacher
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Marie-Charlotte Villy
- Department of genetics, Curie Institute, Paris, France; Université Paris Cité, Paris, France
- Olfa Trabelsi-Grati
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Jessica Le Gall
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Sandrine M. Caputo
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Hélène Delhomelle
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Mathilde Warcoin
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Virginie Moncoutier
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Christine Bourneix
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Nadia Boutry-Kryza
- Service de génétique, Hospices Civils de Lyon, Lyon, France
- Antoine De Pauw
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Marc-Henri Stern
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France; DNA Repair and Uveal Melanoma (D.R.U.M.), Inserm U830, Paris, France
- Bruno Buecher
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Emmanuelle Mouret-Fourme
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Chrystelle Colas
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Dominique Stoppa-Lyonnet
- Department of genetics, Curie Institute, Paris, France; Université Paris Cité, Paris, France; DNA Repair and Uveal Melanoma (D.R.U.M.), Inserm U830, Paris, France
- Julien Masliah-Planchon
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Lisa Golmard
- Department of genetics, Curie Institute, Paris, France; Paris Sciences & Lettres Research University, Paris, France
- Ivan Bieche
- Department of genetics, Curie Institute, Paris, France; Université Paris Cité, Paris, France
- Journal volume & issue
-
Vol. 73
p. 103620
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.
