Male breast cancer: Genetics, epigenetics, and ethical aspects

P. Rizzolo, V. Silvestri, S. Tommasi, R. Pinto, K. Danza, M. Falchetti, M. Gulino, P. Frati, L. Ottini

Research output: Contribution to journalArticlepeer-review


Background and study design: Male breast cancer (MBC) is a rare disease compared with female BC and our current understanding regarding breast carcinogenesis in men has been largely extrapolated from the female counterpart. We focus on differences between the ethical issues related to male and female BC patients. A systematic literature search by using PubMed (, was carried out to provide a synopsis of the current research in the field of MBC genetics, epigenetics and ethics. Original articles and reviews published up to September 2012 were selected by using the following search key words to query the PubMed website: 'male breast cancer', 'male breast cancer and genetic susceptibility', 'male breast cancer and epigenetics', 'male breast cancer and methylation', 'male breast cancer and miRNA', 'male breast cancer and ethics'. Results and conclusions: As in women, three classes of breast cancer genetic susceptibility (high, moderate, and low penetrance) are recognized in men. However, genes involved and their impact do not exactly overlap in female and male BC. Epigenetic alterations are currently scarcely investigated in MBC, however, the different methylation and miRNA expression profiles identified to date in female and male BCs suggest a potential role for epigenetic alterations as diagnostic biomarkers. Overall, much still needs to be learned about MBC and, because of its rarity, the main effort is to develop large consortia for moving forward in understanding MBC and improving the management of MBC patients on a perspective of gender medicine.

Original languageEnglish
Article numbermdt316
JournalAnnals of Oncology
Issue numberSUPPL.B
Publication statusPublished - 2013


  • Epigenetic alterations
  • Ethics
  • Genetic susceptibility
  • Male breast cancer
  • Methylation
  • MiRNAs

ASJC Scopus subject areas

  • Oncology
  • Hematology


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