ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2012
Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Risk-reducing bilateral salpingo-oophorectomy in women with BRCA1 or BRCA2 mutations.The Cochrane database of systematic reviews · 2018Pooled it
- Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial.Journal of the National Cancer Institute · 2015Trial
- The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study.Journal of human genetics · 2025Article
- The Molecular Detection of Germline Mutations in theCurrent issues in molecular biology · 2024Article
- Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods.Pathology oncology research : POR · 2024Article
- Prevention of Epithelial Ovarian Cancer.Cold Spring Harbor perspectives in medicine · 2023Review
- Breast Cancer Risk and Breast-Cancer-Specific Mortality following Risk-Reducing Salpingo-Oophorectomy inCancers · 2023Review
- Disparities in Breast Cancer Mortality Rates in Israel among Urban and Rural Women.International journal of environmental research and public health · 2022Article
- Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors.Familial cancer · 2021Article
- Evaluation of two population screening programmes forBMJ open · 2021Article
- Attitudes towards risk-reducing early salpingectomy with delayed oophorectomy for ovarian cancer prevention: a cohort study.BJOG : an international journal of obstetrics and gynaecology · 2021Article
- Prevalence and Spectrum ofGenes · 2020Article
- BARD1 is necessary for ubiquitylation of nucleosomal histone H2A and for transcriptional regulation of estrogen metabolism genes.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers.Breast cancer research and treatment · 2016Article
- Is it time to offer BRCA1 and BRCA2 testing to all Jewish women?Current oncology (Toronto, Ont.) · 2015Article
- Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.BMC medical genetics · 2014Article
- Clinical outcome of isolated serous tubal intraepithelial carcinomas (STIC).International journal of gynecological cancer : official journal of the International Gynecological Cancer Society · 2013Article
Corrections and comments
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Authors and funding
31 authors at 19 institutions in 5 countries.
Funding
Abstract
purposeMutations in BRCA1/2 dramatically increase the risk of both breast and ovarian cancers. Three mutations in these genes (185delAG, 5382insC, and 6174delT) occur at high frequency in Ashkenazi Jews. We evaluated how these common Jewish mutations (CJMs) affect cancer risks and risk reduction.
methodsOur cohort comprised 4,649 women with disease-associated BRCA1/2 mutations from 22 centers in the Prevention and Observation of Surgical End Points Consortium. Of these women, 969 were self-identified Jewish women. Cox proportional hazards models were used to estimate breast and ovarian cancer risks, as well as risk reduction from risk-reducing salpingo-oophorectomy (RRSO), by CJM and self-identified Jewish status.
resultsNinety-one percent of Jewish BRCA1/2-positive women carried a CJM. Jewish women were significantly more likely to undergo RRSO than non-Jewish women (54% v 41%, respectively; odds ratio, 1.87; 95% CI, 1.44 to 2.42). Relative risks of cancer varied by CJM, with the relative risk of breast cancer being significantly lower in 6174delT mutation carriers than in non-CJM BRCA2 carriers (hazard ratio, 0.35; 95% CI, 0.18 to 0.69). No significant difference was seen in cancer risk reduction after RRSO among subgroups.
conclusionConsistent with previous results, risks for breast and ovarian cancer varied by CJM in BRCA1/2 carriers. In particular, 6174delT carriers had a lower risk of breast cancer. This finding requires additional confirmation in larger prospective and population-based cohort studies before being integrated into clinical care.
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