• Ian Fentiman


Genetic studies have demonstrated multiple differences between male and female breast cancer, most noticeably that mutations of BRCA1 play a very small role in MBC whereas those of BRCA2 may be associated with up to 14% of male cases. Mutations of PALB2, partner and localiser of BRCA2, have been found in 16% of MBC cases, with or without a family history. In a large genome wide association study a common variant of RAD51B, a low penetrance gene, was found to be significantly associated with MBC. The EMSY gene is amplified in 13% of sporadic FBC but in 35% of MBC, with low amplification in BRCA2 associated cancers. Mutations of androgen receptor gene and CYP17 are rare in MBC. Bacterial artificial chromosome (BAC) arrays have revealed more genomic gains and fewer genomic losses in MBC, identifying 2 subgroups: male-complex and male-simple, the latter being found only in men. Genetic testing should be considered in men having one first degree relative with MBC and ≥1 with FBC or ovarian cancer since among this group, mutations have been found in 36%.


Bacterial Artificial Chromosome BRCA2 Mutation BRCA2 Mutation Carrier Copy Number Change Female Breast Cancer 
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Copyright information

© Springer International Publishing Switzerland 2017

Authors and Affiliations

  • Ian Fentiman
    • 1
  1. 1.Research OncologyGuy’s HospitalLondonUnited Kingdom

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