ArticleHuman genetics2011
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Oncogenic BRCA1,2 Mutations in the Human Lineage-A By-Product of Sexual Selection?Biomedicines · 2023Review
- Development of a Critical Appraisal Tool (AIMRDA) for the Peer-Review of Studies Assessing the Anticancer Activity of Natural Products: A Step towards Reproducibility.Asian Pacific journal of cancer prevention : APJCP · 2022Article
- Pancreatic cancer pathology viewed in the light of evolution.Cancer metastasis reviews · 2021Review
- Association between hereditary predisposition to common cancers and congenital multimalformations.Congenital anomalies · 2020Article
- Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.Genome medicine · 2019Article
- Cancer in wildlife: patterns of emergence.Nature reviews. Cancer · 2018Review
- The Potential Contribution of BRCA Mutations to Early Onset and Familial Breast Cancer in Uzbekistan.Central Asian journal of global health · 2016Article
- BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.The oncologist · 2015Article
- BRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk.PloS one · 2015Article
- Wild-type genotypes of BRCA1 gene SNPs combined with micro-RNA over-expression in mammary tissue leading to familial breast cancer with an increased risk of distant metastases' occurrence.Medical oncology (Northwood, London, England) · 2014Article
- Reliable in vitro studies require appropriate ovarian cancer cell lines.Journal of ovarian research · 2014Review
- An international comparison of male and female breast cancer incidence rates.International journal of cancer · 2013Article
- Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.European journal of human genetics : EJHG · 2013Article
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Authors and funding
121 authors at 20 institutions in 15 countries.
Funding
Abstract
Three founder mutations in BRCA1 and BRCA2 contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at increased frequency in the AJ compared to other BRCA mutations in Caucasian non-Jews (CNJ). Several authors have proposed that elevated allele frequencies in the surrounding genomic regions reflect adaptive or balancing selection. Such proposals predict long-range linkage disequilibrium (LD) resulting from a selective sweep, although genetic drift in a founder population may also act to create long-distance LD. To date, few studies have used the tools of statistical genomics to examine the likelihood of long-range LD at a deleterious locus in a population that faced a genetic bottleneck. We studied the genotypes of hundreds of women from a large international consortium of BRCA1 and BRCA2 mutation carriers and found that AJ women exhibited long-range haplotypes compared to CNJ women. More than 50% of the AJ chromosomes with the BRCA1 185delAG mutation share an identical 2.1 Mb haplotype and nearly 16% of AJ chromosomes carrying the BRCA2 6174delT mutation share a 1.4 Mb haplotype. Simulations based on the best inference of Ashkenazi population demography indicate that long-range haplotypes are expected in the context of a genome-wide survey. Our results are consistent with the hypothesis that a local bottleneck effect from population size constriction events could by chance have resulted in the large haplotype blocks observed at high frequency in the BRCA1 and BRCA2 regions of Ashkenazi Jews.
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