ArticleEuropean journal of human genetics : EJHG2013
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 51 citations in OpenAlex.
- Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma.PloS one · 2018Trial
- BRCA1 c.68_69del as a founder variant in the Spanish Roma: prevalence and screening implications.European journal of human genetics : EJHG · 2026Article
- Genetic screening of FFPE breast cancer biopsies for theRevista panamericana de salud publica = Pan American journal of public health · 2025Article
- The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians.European journal of human genetics : EJHG · 2024Article
- BRCA1 and Its Vulnerable C-Terminal BRCT Domain: Structure, Function, Genetic Mutations and Links to Diagnosis and Treatment of Breast and Ovarian Cancer.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Article
- Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.International journal of cancer · 2023Article
- Landscape of germlineFrontiers in oncology · 2023Article
- Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14Cell · 2022Article
- Contribution of BRCA1 5382insC mutation to triplene-gative and luminal types of breast cancer in Ukraine.Breast cancer research and treatment · 2022Article
- Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.Life science alliance · 2022Article
- Population-based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants.Molecular genetics & genomic medicine · 2022Article
- Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India.Molecular biology reports · 2022Article
- DNA damage repair system in C57BL/6 J mice is evolutionarily stable.BMC genomics · 2021Article
- Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors.Familial cancer · 2021Article
- Genetic testing in Poland and Ukraine: should comprehensive germline testing ofGenetics research · 2020Article
- BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.Human mutation · 2019Article
- BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center.BMC medical genetics · 2019Article
- Review
- Mutations in context: implications of BRCA testing in diverse populations.Familial cancer · 2018Review
Corrections and comments
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Authors and funding
16 authors at 10 institutions in 4 countries.
Funding
Abstract
The 185delAG* BRCA1 mutation is encountered primarily in Jewish Ashkenazi and Iraqi individuals, and sporadically in non-Jews. Previous studies estimated that this is a founder mutation in Jewish mutation carriers that arose before the dispersion of Jews in the Diaspora ~2500 years ago. The aim of this study was to assess the haplotype in ethnically diverse 185delAG* BRCA1 mutation carriers, and to estimate the age at which the mutation arose. Ethnically diverse Jewish and non-Jewish 185delAG*BRCA1 mutation carriers and their relatives were genotyped using 15 microsatellite markers and three SNPs spanning 12.5 MB, encompassing the BRCA1 gene locus. Estimation of mutation age was based on a subset of 11 markers spanning a region of ~5 MB, using a previously developed algorithm applying the maximum likelihood method. Overall, 188 participants (154 carriers and 34 noncarriers) from 115 families were included: Ashkenazi, Iraq, Kuchin-Indians, Syria, Turkey, Iran, Tunisia, Bulgaria, non-Jewish English, non-Jewish Malaysian, and Hispanics. Haplotype analysis indicated that the 185delAG mutation arose 750-1500 years ago. In Ashkenazim, it is a founder mutation that arose 61 generations ago, and with a small group of founder mutations was introduced into the Hispanic population (conversos) ~650 years ago, and into the Iraqi-Jewish community ~450 years ago. The 185delAG mutation in the non-Jewish populations in Malaysia and the UK arose at least twice independently. We conclude that the 185delAG* BRCA1 mutation resides on a common haplotype among Ashkenazi Jews, and arose about 61 generations ago and arose independently at least twice in non-Jews.
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