ArticleAmerican journal of human genetics1997
Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 4 of them syntheses that pooled it.
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Who cites it
109 citing papers in PubMed, 4 syntheses or guidelines pooled it, 321 citations in OpenAlex.
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- Pooled it
- BRCA genetic screening in Middle Eastern and North African: mutational spectrum and founder BRCA1 mutation (c.798_799delTT) in North African.Disease markers · 2015Pooled it
- Common BRCA1 and BRCA2 mutations in breast cancer families: a meta-analysis from systematic review.Molecular biology reports · 2012Pooled it
- Efficacy and toxicity of neoadjuvant chemotherapy versus chemo-immunotherapy in triple-negative breast cancer patients with and without germline BRCA mutations.Breast cancer research and treatment · 2026Article
- Psychologically informed reminder messages for promoting BRCA1/2 carrier screening: evidence from a large-scale population-based study.European journal of public health · 2026Observational
- Frequency of Founder Mutations inCancers · 2026Review
- Integrative Gene-Centric Analysis Reveals Cellular Pathways Associated with Heritable Breast Cancer Predisposition.Cancers · 2025Article
- Article
- Genetics and context for precision health in Greater Boston.Nature communications · 2025Article
- Large-Scale Population Screening forBreast care (Basel, Switzerland) · 2025Article
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- Strong association of single nucleotide polymorphisms in BRCA1, ATM, and CHEK2 with breast cancer susceptibility in a sub-population of Iranian women.Breast cancer research and treatment · 2025Article
- Early and hereditary breast cancer: advances in risk stratification and imaging approaches.Therapeutic advances in medical oncology · 2025Review
- To treat or not to treat? Oncologists' perceptions and experiences regarding overtreatment in end stage cancer patients.Frontiers in medicine · 2025Article
- Germline Genetic Testing for Hereditary Breast and Ovarian Cancer: Current Concepts in Risk Evaluation.Cold Spring Harbor perspectives in medicine · 2024Review
- Efficacy and safety of mesenchymal stem cell injections for knee osteoarthritis: A systematic review and meta-analysis.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2024Review
- Novel loci for Alzheimer's disease identified by a genome-wide association study in Ashkenazi Jews.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- Decoding Genetics, Ancestry, and Geospatial Context for Precision Health.medRxiv : the preprint server for health sciences · 2023Article
- Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.Oncotarget · 2023Article
49 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germ-line BRCA1 and BRCA2 mutations account for most of familial breast-ovarian cancer. In Ashkenazi Jews, there is a high population frequency (approximately 2%) of three founder mutations: BRCA1 185delAG, BRCA1 5382insC, and BRCA2 6174delT. This study examined the frequency of these mutations in a series of Ashkenazi women with ovarian cancer unselected for family history, compared with the frequency of these mutations in families ascertained on the basis of family history of at least two affected women. Penetrance was compared, both according to the method of family ascertainment (i.e., on the basis of an unselected ovarian cancer proband vs. on the basis of family history) and for the BRCA1 founder mutations compared with the BRCA2 6174delT mutation. There was a high frequency (10/22; [45%]) of germ-line mutations in Ashkenazi women with ovarian cancer, even in those with minimal or no family history (7/18 [39%]). In high-risk Ashkenazi families, a founder mutation was found in 59% (25/42). Families with any case of ovarian cancer were significantly more likely to segregate a founder mutation than were families with site-specific breast cancer. Penetrance was higher in families ascertained on the basis of family history than in families ascertained on the basis of an unselected proband, but this difference was not significant. Penetrance of BRCA1 185delAG and BRCA1 5382insC was significantly higher than penetrance of BRCA2 6174delT (hazard ratio 2.1 [95% CI 1.2-3.8]; two-tailed P = .01). Thus, the high rate of germ-line BRCA1/BRCA2 mutations in Ashkenazi women and families with ovarian cancer is coupled with penetrance that is lower than previously estimated. This has been shown specifically for the BRCA2 6174delT mutation, but, because of ascertainment bias, it also may be true for BRCA1 mutations.
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Identifiers
9150153PMC1712434W19873900What OpenQuestion holds
Registered trials
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.