Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement

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. Howeve...

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Published inBreast (Edinburgh) Vol. 73; p. 103620
Main Authors Schwartz, Mathias, Ibadioune, Sabrina, Vacher, Sophie, Villy, Marie-Charlotte, Trabelsi-Grati, Olfa, Le Gall, Jessica, Caputo, Sandrine M., Delhomelle, Hélène, Warcoin, Mathilde, Moncoutier, Virginie, Bourneix, Christine, Boutry-Kryza, Nadia, De Pauw, Antoine, Stern, Marc-Henri, Buecher, Bruno, Mouret-Fourme, Emmanuelle, Colas, Chrystelle, Stoppa-Lyonnet, Dominique, Masliah-Planchon, Julien, Golmard, Lisa, Bieche, Ivan
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier Ltd 01.02.2024
Elsevier
Subjects
Breast neoplasm
DNA methylation
Epigenomics
Genetic testing
HBOC syndrome
Homologous recombination
Short Communication
DNA methylation
Epigenomics
Genetic testing
HBOC syndrome
Homologous recombination
Breast neoplasm
Online AccessGet full text
ISSN0960-9776
1532-3080
1532-3080
DOI10.1016/j.breast.2023.103620

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Summary: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. •Mosaic BRCA1 promoter methylations (MBPM) are frequent epimutations in women.•We report the first two male breast cancer patients carrying MBPM.•They presented invasive breast cancers expressing estrogen receptors.•Their breast cancers were not due to BRCA1: no homologous recombination deficiency.•Additional studies are necessary to use MBPM status to guide clinical decisions.
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ISSN:0960-9776
1532-3080
1532-3080
DOI:10.1016/j.breast.2023.103620