Germline BRCA2 mutations in men with breast cancer

E Mavraki; I C Gray; D T Bishop; N K Spurr

doi:10.1038/bjc.1997.574

Germline BRCA2 mutations in men with breast cancer

Br J Cancer. 1997;76(11):1428-31. doi: 10.1038/bjc.1997.574.

Authors

E Mavraki¹, I C Gray, D T Bishop, N K Spurr

Affiliation

¹ Imperial Cancer Research Fund, Genetic Epidemiology, St James's Hospital, Leeds, UK.

Abstract

Breast cancer in men is rare and is clearly due in some cases to an inherited predisposition. A total of 28 male breast cancer patients were tested for BRCA2 mutations; two frameshifts and one putative missense mutation were identified. One of the frameshifts was detected in the same position as a mutation estimated to be responsible for 40% of all male breast cancer cases in Iceland.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

BRCA2 Protein
Base Sequence
Breast Neoplasms / genetics
Breast Neoplasms, Male / genetics*
DNA, Neoplasm / analysis
DNA, Neoplasm / genetics
Female
Germ-Line Mutation*
Humans
Male
Neoplasm Proteins / genetics*
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Transcription Factors / genetics*

Substances

BRCA2 Protein
DNA, Neoplasm
Neoplasm Proteins
Transcription Factors