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

被引：28

作者：

Evans, D. G. R. ^{[1
,2
]}

Bulman, Mike ^{[1
,2
]}

Young, Karen ^{[1
,2
]}

Howard, Emma ^{[1
,2
]}

Bayliss, Stuart ^{[1
,2
]}

Wallace, Andrew ^{[1
,2
]}

Lalloo, Fiona ^{[1
,2
]}

机构：

[1] St Marys Hosp, Acad Unit Med Genet, Natl Genet Reference Lab, Manchester M13 0JH, Lancs, England

[2] St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England

来源：

FAMILIAL CANCER | 2008年 / 7卷 / 02期

关键词：

breast cancer; male; BRCA2; BRCA1; ovarian cancer; Manchester score;

D O I：

10.1007/s10689-007-9153-9

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：113 / 117

页数：5

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