title: The cancer genetics and pathology of male breast cancer.
abstract: Male breast cancer (MBC) is an uncommon and poorly understood disease. Recent molecular studies have shown important differences from female breast cancer which are likely to influence treatment strategies from the current female-based management towards a more tailored approach. Significantly more MBCs than female breast cancers arise with an underlying germline cancer predisposition, and display a vastly different penetrance compared with females. Furthermore, the genophenotypical association of basal-like cancer with BRCA1 present in female breast cancer is not observed in male breast cancer. Differences in somatic changes between male and female breast cancer have also been reported, with particular enrichment of PIK3CA mutations and a paucity of TP53 mutations. In general, chromosomal-based changes, in particular regions of gains, are seen more frequently in male than female breast cancer and methylation is seen less frequently. Clinically, several molecular subtypes with prognostic relevance have been described, including chromosomal complex high and methylation high groups, and subgroups with profiling signatures pertaining to epithelial mesenchymal transition and hormonal therapy insensitivity. As with female breast cancer, attention to male specific multicentre trials based on the individual characteristics are needed, together with establishment of reliable preclinical models to understand more clearly the pathogenesis of male breast cancer and improve the general poor outcome of this disease.
authors.affiliation: Department of Pathology, Peter MacCallum Cancer Centre, Department of Pathology and Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Vic., Australia.|Department of Anatomical Pathology, Royal Melbourne Hospital, Parkville, Melbourne, Vic., Australia.
authors.forename: Siddhartha
authors.initials: S
authors.lastname: Deb
authors.affiliation: Department of Anatomical Pathology, Pathology Queensland, University of Queensland, Brisbane, Qld, Australia.|Department of Molecular and Cellular Pathology, School of Medicine, University of Queensland, Brisbane, Qld, Australia.|The Royal Brisbane and Women's Hospital, University of Queensland Centre for Clinical Research, Brisbane, Qld, Australia.
authors.forename: Sunil R
authors.initials: SR
authors.lastname: Lakhani
authors.affiliation: Department of Molecular Medicine, 'Sapienza' University of Rome, Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Ottini
authors.affiliation: Department of Pathology, Peter MacCallum Cancer Centre, Department of Pathology and Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Vic., Australia.
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Fox
mesh_terms: D018567:Breast Neoplasms, Male / Q000235:genetics / Q000473:pathology*; D058534:Class I Phosphatidylinositol 3-Kinases; D020869:Gene Expression Profiling; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008297:Male; D009154:Mutation; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics
chemical_list: D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
keywords: breast cancer; genetics; male; pathology