Prevalence of recurring BRCA mutations among Ashkenazi Jewish women with breast cancer Journal Article


Authors: Robson, M.; Dabney, M. K.; Rosenthal, G.; Ludwig, S.; Seltzer, M. H.; Gilewski, T.; Haas, B.; Osborne, M.; Norton, L.; Gilbert, F.; Offit, K.
Article Title: Prevalence of recurring BRCA mutations among Ashkenazi Jewish women with breast cancer
Abstract: The BRCA1 mutations 185delAG and 5382insC and the BRCA2 mutation 6174delT have been detected in a significant proportion of Ashkenazi Jewish women with early-onset breast cancer. A group of 236 Jewish women with breast cancer was screened for the presence of these alterations. Mutations were detected in 25.0% (59/236). Among women with breast cancer diagnosed at or before the age of 45, the prevalence of these mutations was 29.1% (42/144). Among women diagnosed with breast cancer after age 45, mutations were noted in 18.5% (17/92). Among women with a family history of breast or ovarian cancer, the likelihood of detecting a mutation was 32.1% (53/165). BRCA1 185delAG was the most common mutation overall (40/236, 16.9%). The ratio of BRCA1 185delAG to BRCA2 6174delT was 4.0 in women with early-onset breast cancer and 1.3 in women with breast cancer diagnosed after age 45. Clinical features such as age at diagnosis, family history of breast or ovarian cancer, bilateral breast cancer, and personal history of breast and ovarian cancer increase the likelihood of detecting mutations among Ashkenazi women with breast cancer. The yield of testing is low in the absence of any of these features.
Keywords: adult; middle aged; genetics; mutation; ovarian neoplasms; phenotype; neoplasm proteins; gene frequency; transcription factor; breast neoplasms; brca2 protein; transcription factors; tumor suppressor gene; genes, brca1; breast tumor; ovary tumor; tumor protein; genetic screening; onset age; age of onset; jews; genes, tumor suppressor; jew; humans; human; female; article
Journal Title: Genetic Testing
Volume: 1
Issue: 1
ISSN: 1090-6576
Publisher: Mary Ann Liebert, Inc  
Date Published: 1997-01-01
Start Page: 47
End Page: 51
Language: English
PUBMED: 10464625
PROVIDER: scopus
DOI: 10.1089/gte.1997.1.47
DOI/URL:
Notes: Article -- Export Date: 17 March 2017 -- Source: Scopus
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MSK Authors
  1. Kenneth Offit
    791 Offit
  2. Larry Norton
    760 Norton
  3. Mark E Robson
    682 Robson
  4. Bruce R Haas
    8 Haas