High detection rate for BRCA2 mutations in male breast cancer families from North West England
Familial CancerPublished 1 October 2001
D. Gareth Evans, M. Bulman, Karen Young, David Gokhale, Fiona Lalloo
Citations14
SJR quartileQ2
SJR score1.02
SNIP0.88
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TL;DR
Of the 14 families fulfilling BCLC criteria, 9 had mutations whilst only 3/16 of male breast cancer patients with less significant female breast cancer family history having a mutation, these data are a further guide to how to prioritise samples for BRCA2 mutation analysis.
Abstract
33 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 BRCA2 mutations. 12 pathogenic BRCA2 mutations were identified (36%) in samples from an affected family member. All mutations segregated with disease where it was possible to check. Of the 14 families fulfilling BCLC criteria, 9 (64%) had mutations whilst only 3/16 (19%) of male breast cancer patients with less significant female breast cancer family history having a mutation. All 3 families with ovarian cancer and 3 families with multiple male breast cancer cases had BRCA2 mutations. These data are a further guide to how to prioritise samples for BRCA2 mutation analysis.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
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