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Published in:

01-06-2008

BRCA1/2 mutation analysis in male breast cancer families from North West England

Authors: D. G. R. Evans, Mike Bulman, Karen Young, Emma Howard, Stuart Bayliss, Andrew Wallace, Fiona Lalloo

Published in: Familial Cancer | Issue 2/2008

Abstract

64 families with a history of male breast cancer aged 60 or less or with a family history of male and female breast cancer were screened for the presence of BRCA1 and BRCA2 mutations. Seventeen pathogenic BRCA2 and four BRCA1 mutations were identified (34%) in samples from an affected family member. All but one of the mutations segregated with disease where samples were available and pedigree structure permitted. Despite high sensitivity of mutation testing only 64% of families fulfilling BCLC criteria had an identifiable pathogenic mutation. It is possible that at least some of these families may have mutations in other genes, although we found no involvement of CHEK2 1100delC.

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Title: BRCA1/2 mutation analysis in male breast cancer families from North West England
Authors: D. G. R. Evans
Mike Bulman
Karen Young
Emma Howard
Stuart Bayliss
Andrew Wallace
Fiona Lalloo
Publication date: 01-06-2008
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 2/2008
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-007-9153-9

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