ArticleAmerican journal of human genetics1998
Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 220 citations in OpenAlex.
- Common BRCA1 and BRCA2 mutations in breast cancer families: a meta-analysis from systematic review.Molecular biology reports · 2012Pooled it
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- Hypersensitivity of BRCA2 deficient cells to rosemary extract explained by weak PARP inhibitory activity.Scientific reports · 2017Article
- Article
- Bias Correction Methods Explain Much of the Variation Seen in Breast Cancer Risks of BRCA1/2 Mutation Carriers.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2015Review
- Localization of BRCA1 protein in breast cancer tissue and cell lines with mutations.Cancer cell international · 2013Article
- Examining the pathogenesis of breast cancer using a novel agent-based model of mammary ductal epithelium dynamics.PloS one · 2013Article
- BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.Medical oncology (Northwood, London, England) · 2012Article
- Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil.Genetics and molecular biology · 2012Article
- Prevalence of the most frequent BRCA1 mutations in Polish population.Journal of applied genetics · 2011Article
- Cancer evolution and individual susceptibility.Integrative biology : quantitative biosciences from nano to macro · 2011Review
- What are genes "for" or where are traits "from"? What is the question?BioEssays : news and reviews in molecular, cellular and developmental biology · 2009Article
- Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.Clinical cancer research : an official journal of the American Association for Cancer Research · 2009Article
- A high frequent BRCA1 founder mutation identified in the Greenlandic population.Familial cancer · 2009Article
- Tilting at quixotic trait loci (QTL): an evolutionary perspective on genetic causation.Genetics · 2008Review
- Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers.Breast cancer research : BCR · 2008Article
- Genetic mapping in mice identifies DMBT1 as a candidate modifier of mammary tumors and breast cancer risk.The American journal of pathology · 2007Article
- A discrete choice experiment of preferences for genetic counselling among Jewish women seeking cancer genetics services.British journal of cancer · 2006Article
- Characterization of BRCA1 and BRCA2 mutations in a large United States sample.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2006Article
- A novel frequent BRCA1 allele in Chinese patients with breast cancer.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2006Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Based on breast cancer families with multiple and/or early-onset cases, estimates of the lifetime risk of breast cancer in carriers of BRCA1 or BRCA2 mutations may be as high as 85%. The risk for individuals not selected for family history or other risk factors is uncertain. We determined the frequency of the common BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) mutations in a series of 268 anonymous Ashkenazi Jewish women with breast cancer, regardless of family history or age at onset. DNA was analyzed for the three mutations by allele-specific oligonucleotide hybridization. Eight patients (3.0%, 95% confidence interval [CI] 1.5%-5.8%) were heterozygous for the 185delAG mutation, two (0.75%, 95% CI 0.20-2.7) for the 5382insC mutation, and eight (3.0%, 95% CI 1.5-5.8) for the 6174delT mutation. The lifetime risk for breast cancer in Ashkenazi Jewish carriers of the BRCA1 185delAG or BRCA2 6174delT mutations was calculated to be 36%, approximately three times the overall risk for the general population (relative risk 2.9, 95% CI 1.5-5.8). For the 5382insC mutation, because of the low number of carriers found, further studies are necessary. The results differ markedly from previous estimates based on high-risk breast cancer families and are consistent with lower estimates derived from a recent population-based study in the Baltimore area. Thus, presymptomatic screening and counseling for these common mutations in Ashkenazi Jewish women not selected for family history of breast cancer should be reconsidered until the risk associated with these mutations is firmly established, especially since early diagnostic and preventive-treatment modalities are limited.
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