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BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.

Abstract：

:The Breast Cancer Family Registry is a resource for interdisciplinary and translational studies of the genetic epidemiology of breast cancer. This resource is available to researchers worldwide for collaborative studies. Herein, we report the results of testing for germline mutations in BRCA1 and BRCA2. We have tested 4,531 probands for mutations in BRCA1 and 4,084 in BRCA2. Deleterious mutations in BRCA1 and BRCA2 were identified for 9.8% of probands tested [233/4,531 (5.1%) for BRCA1 and 193/4,084 (4.7%) for BRCA2]. Of 1,385 Ashkenazi Jewish women tested for only the three founder mutations, 17.4% carried a deleterious mutation. In total, from the proband and subsequent family testing, 1,360 female mutation carriers (788 in BRCA1, 566 in BRCA2, 6 in both BRCA1 and BRCA2) have been identified. The value of the resource has been greatly enhanced by determining the germline BRCA1 and BRCA2 mutation statuses of nearly 6,000 probands.

journal_name

Breast Cancer Res Treat

journal_title

Breast cancer research and treatment

authors

Neuhausen SL,Ozcelik H,Southey MC,John EM,Godwin AK,Chung W,Iriondo-Perez J,Miron A,Santella RM,Whittemore A,Andrulis IL,Buys SS,Daly MB,Hopper JL,Seminara D,Senie RT,Terry MB,Breast Cancer Family Registry.

doi

10.1007/s10549-008-0153-8

subject

Has Abstract

pub_date

2009-07-01 00:00:00

pages

379-86

issue

2

eissn

0167-6806

issn

1573-7217

journal_volume

116

pub_type

杂志文章

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