ArticleGenetics and molecular biology2012
Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil.
Article in Genetics and molecular biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 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
- Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.Discover oncology · 2025Article
- A comprehensive framework for the management of hereditary breast cancers: guiding light in precision medicine.Oncology reviews · 2025Review
- Landscape of germlineFrontiers in oncology · 2023Article
- Population-based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variants.Molecular genetics & genomic medicine · 2022Article
- Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.Human genome variation · 2021Article
- Advanced Approaches to Breast Cancer Classification and Diagnosis.Frontiers in pharmacology · 2020Review
- Identification of Mutation in Exon11 of BRCA1 Gene in Bangladeshi Patients with Breast Cancer.Asian Pacific journal of cancer prevention : APJCP · 2019Article
- Review
- Clusters of genetic diseases in Brazil.Journal of community genetics · 2019Article
- Mutations in context: implications of BRCA testing in diverse populations.Familial cancer · 2018Review
- BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso.Journal of public health in Africa · 2018Article
- Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.Oncotarget · 2016Article
- Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.Genetics and molecular biology · 2016Article
- Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.Human genome variation · 2014Article
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a "bottleneck", which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed over the years in an attempt to elucidate the role of BRCA1 and BRCA2 genes in susceptibility to breast cancer. The aim of this study was to estimate the carrier frequency of certain common mutations in the BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) genes in an Ashkenazi Jewish population from Porto Alegre, Brazil. Molecular analyses were done by PCR followed by RFLP (ACRS). The carrier frequencies for BRCA1 185delAG and 5382insC were 0.78 and 0 respectively, and 0.4 for the BRCA2 6174deT mutation. These findings are similar to those of some prior studies but differ from others, possibly due to excluding individuals with a personal or family history of cancer. Our sample was drawn from the community group and included individuals with or without a family or personal history of cancer. Furthermore, increased dispersion among Ashkenazi subpopulations may be the result of strong genetic drift and/or admixture. It is therefore necessary to consider the effects of local admixture on the mismatch distributions of various Jewish populations.
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