ArticleJournal of clinical oncology : official journal of the American Society of Clinical Oncology2006
Characterization of BRCA1 and BRCA2 mutations in a large United States sample.
Article in Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 138 papers, 4 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
138 citing papers in PubMed, 4 syntheses or guidelines pooled it, 324 citations in OpenAlex.
- BRCA genes as candidates for colorectal cancer genetic testing panel: systematic review and meta-analysis.BMC cancer · 2023Pooled it
- Association of Hormonal Contraceptive Use With Adverse Health Outcomes: An Umbrella Review of Meta-analyses of Randomized Clinical Trials and Cohort Studies.JAMA network open · 2022Pooled it
- NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.Journal of genetic counseling · 2013Guideline
- Meta-analysis of BRCA1 and BRCA2 penetrance.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2007Pooled it
- Use of CA125 and HE4 serum markers to predict ovarian cancer in elevated-risk women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2014Trial
- A randomized controlled trial of diet and physical activity in BRCA mutation carriers.Familial cancer · 2014Trial
- Flexible Modeling of Time-Dependent Covariate Effects in Survival Models With Correlated Competing Risks: Application to the Evaluation of Risk-Reducing Salpingo-Oophorectomy in Women With BRCA1 Pathogenic Variants.Statistics in medicine · 2026Article
- [Fertility management in breast cancer patients: current strategies and research advances].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2025Review
- Characterization of a Genetic Variant inBiomedicines · 2025Article
- Association of Polygenic-Based Breast Cancer Risk Prediction With Patient Management.JCO precision oncology · 2025Article
- Breast cancer risk associated withCancer pathogenesis and therapy · 2025Article
- The Burden of Cancers Associated with Hereditary Breast and Ovarian Cancer Syndrome, 2015-2019: A Population-based Cancer Registry Analysis.Journal of registry management · 2025Observational
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- Age-specific breast and ovarian cancer risks associated with germlineThe Lancet regional health. Western Pacific · 2024Article
- A comprehensive analysis of clinical and polygenic germline influences on somatic mutational burden.American journal of human genetics · 2024Article
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- Establishment of a clinical cancer genetics program for breast cancer in a resource-limited country; challenges and opportunities.Frontiers in oncology · 2024Review
78 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
20 authors at 1 institution in 1 country.
Funding
Abstract
purposeAn accurate evaluation of the penetrance of BRCA1 and BRCA2 mutations is essential to the identification and clinical management of families at high risk of breast and ovarian cancer. Existing studies have focused on Ashkenazi Jews (AJ) or on families from outside the United States. In this article, we consider the US population using the largest US-based cohort to date of both AJ and non-AJ families.
methodsWe collected 676 AJ families and 1,272 families of other ethnicities through the Cancer Genetics Network. Two hundred eighty-two AJ families were population based, whereas the remainder was collected through counseling clinics. We used a retrospective likelihood approach to correct for bias induced by oversampling of participants with a positive family history. Our approach takes full advantage of detailed family history information and the Mendelian transmission of mutated alleles in the family.
resultsIn the US population, the estimated cumulative breast cancer risk at age 70 years was 0.46 (95% CI, 0.39 to 0.54) in BRCA1 carriers and 0.43 (95% CI, 0.36 to 0.51) in BRCA2 carriers, whereas ovarian cancer risk was 0.39 (95% CI, 0.30 to 0.50) in BRCA1 carriers and 0.22 (95% CI, 0.14 to 0.32) in BRCA2 carriers. We also reported the prospective risks of developing cancer for cancer-free carriers in 10-year age intervals. We noted a rapid decrease in the relative risk of breast cancer with age and derived its implication for genetic counseling.
conclusionThe penetrance of BRCA mutations in the United States is largely consistent with previous studies on Western populations given the large CIs on existing estimates. However, the absolute cumulative risks are on the lower end of the spectrum.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.