ArticleBritish journal of cancer2000
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.
Article in British journal of cancer, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03006913 (Comparison of 3 Modes of Genetic Counseling in High-Risk Public Hospital), which is not on this map. Cited by 284 papers, 8 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.
Comparison of 3 Modes of Genetic Counseling in High-Risk Public Hospital
Who cites it
284 citing papers in PubMed, 8 syntheses or guidelines pooled it, 600 citations in OpenAlex.
- [Hereditary genetic testing and its application in the diagnosis, treatment, and prevention of breast cancer].Magyar onkologia · 2025Guideline
- Gendered interpretations of the causes of breast cancer: a structured review of migrant studies.BMC women's health · 2025Pooled it
- Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.Current oncology reports · 2022Pooled it
- Pooled it
- A systematic review of recommendations on screening strategies for breast cancer due to hereditary predisposition: Who, When, and How?Cancer medicine · 2021Pooled it
- Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Pooled it
- Lack of association between cyclin-dependent kinase inhibitor 1B rs2066827 polymorphism and breast cancer susceptibility.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Common BRCA1 and BRCA2 mutations in breast cancer families: a meta-analysis from systematic review.Molecular biology reports · 2012Pooled it
- A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.Journal of medical genetics · 2022Trial
- Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial.JAMA network open · 2022Trial
- Study protocol: a cluster randomized controlled trial of web-based decision support tools for increasing BRCA1/2 genetic counseling referral in primary care.BMC health services research · 2018Trial
- Benefit from procarbazine, lomustine, and vincristine in oligodendroglial tumors is associated with mutation of IDH.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2014Trial
- Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2013Trial
- Non-cancer endpoints in BRCA1/2 carriers after risk-reducing salpingo-oophorectomy.Familial cancer · 2012Trial
- Exploring Traditional Breast Cancer Risk Genes Among Aboriginal and Torres Strait Islander Women.Life (Basel, Switzerland) · 2026Article
- Breast cancer risk genes affecting individual radiosensitivity.Scientific reports · 2026Article
- Review
- Identification of Genetic Variants Among Breast Cancer Patients and At-Risk Individuals: A Cohort Study in Sri Lanka.Breast cancer : basic and clinical research · 2026Article
- Triple-negative breast cancer, pregnancy, and HLA alloreactivity: a cause for concern?Frontiers in oncology · 2026Article
- Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-DependentCancers · 2025Article
224 more citing papers are in PubMed but not listed here.
Corrections and comments
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Abstract
Estimates of the contribution of BRCA1 and BRCA2 to breast cancer incidence in outbred populations have been based on studies that are either small or have selected for cases diagnosed at an early age. Only one of these has reported an estimate of the breast cancer risk associated with a mutation in these genes, and there is no published ovarian cancer risk estimate derived from a population-based case series. We screened a population-based series of breast cancer cases diagnosed before the age of 55 for mutations in BRCA1 and BRCA2. Pedigree information from the mutation carriers was used to estimate penetrance and the proportion of familial risk of breast cancer due to BRCA1 and BRCA2. We identified eight (0.7%) BRCA1 and 16 (1.3%) BRCA2 mutation carriers in 1220 breast cancer cases (actual sample size 1435 adjusted for 15% polymerase chain reaction failure rate). Mutation prevalence was substantially higher in cases diagnosed before 35 years-of-age and with increasing number of relatives affected with breast or ovarian cancer. However, most mutation carriers were diagnosed in the older age groups, and a minority reported a first-degree relative with breast cancer. Breast cancer penetrance by age 80 was estimated to be 48% (95% CI 7-82%) for BRCA1 mutation carriers and 74% (7-94%) for BRCA2 mutation carriers. Ovarian cancer penetrance for BRCA1 and BRCA2 combined was 22% (6-65%) by age 80. 17% of the familial risk of breast cancer was attributable to BRCA1 and BRCA2. At birth, the estimated prevalence of BRCA1 mutation carriers was 0.07% or 0.09% depending on the penetrance function used for the calculation. For BRCA2, the birth prevalence estimates were 0.14% and 0.22%. Mutations in the genes BRCA1 and BRCA2 are rare in the population and account for a small fraction of all breast cancer in the UK. They account for less than one fifth of the familial risk of breast cancer. Eligibility criteria for BRCA1 and BRCA2 mutation testing based on family history and age of onset will identify only a small proportion of mutation carriers.
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