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01-07-2009 | Epidemiology

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

Authors: Susan L. Neuhausen, Hilmi Ozcelik, Melissa C. Southey, Esther M. John, Andrew K. Godwin, Wendy Chung, Jeniffer Iriondo-Perez, Alexander Miron, Regina M. Santella, Alice Whittemore, Irene L. Andrulis, Saundra S. Buys, Mary B. Daly, John L. Hopper, Daniela Seminara, Ruby T. Senie, Mary Beth Terry, Breast Cancer Family Registry

Published in: Breast Cancer Research and Treatment | Issue 2/2009

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.

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Title: BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research
Authors: Susan L. Neuhausen
Hilmi Ozcelik
Melissa C. Southey
Esther M. John
Andrew K. Godwin
Wendy Chung
Jeniffer Iriondo-Perez
Alexander Miron
Regina M. Santella
Alice Whittemore
Irene L. Andrulis
Saundra S. Buys
Mary B. Daly
John L. Hopper
Daniela Seminara
Ruby T. Senie
Mary Beth Terry
Breast Cancer Family Registry
Publication date: 01-07-2009
Publisher: Springer US
Published in: Breast Cancer Research and Treatment / Issue 2/2009
Print ISSN: 0167-6806
Electronic ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-008-0153-8

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