ArticleHereditary cancer in clinical practice2011
Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome.
Article in Hereditary cancer in clinical practice, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 3 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 3 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.European journal of medical research · 2024Pooled it
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective.Breast cancer research and treatment · 2015Pooled it
- The germline mutational landscape of BRCA1 and BRCA2 in Brazil.Scientific reports · 2018Trial
- Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.Breast cancer research and treatment · 2024Article
- The Molecular Detection of Germline Mutations in theCurrent issues in molecular biology · 2024Article
- Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.Scientific reports · 2022Article
- Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer.Genetics and molecular biology · 2020Article
- Review
- A Multi-Center Study ofCancers · 2019Article
- Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil.BMC cancer · 2019Article
- Mutations in context: implications of BRCA testing in diverse populations.Familial cancer · 2018Review
- Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.Biological research · 2017Review
- Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.Gene therapy · 2017Review
- Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.Hereditary cancer in clinical practice · 2017Review
- Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.Oncotarget · 2016Article
- Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.BMC cancer · 2016Article
- Genomic Disparities in Breast Cancer Among Latinas.Cancer control : journal of the Moffitt Cancer Center · 2016Article
- Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53.Genetics and molecular biology · 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
Corrections and comments
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Authors and funding
14 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
About 5-10% of breast and ovarian carcinomas are hereditary and most of these result from germline mutations in the BRCA1 and BRCA2 genes. In women of Ashkenazi Jewish ascendance, up to 30% of breast and ovarian carcinomas may be attributable to mutations in these genes, where 3 founder mutations, c.68_69del (185delAG) and c.5266dup (5382insC) in BRCA1 and c.5946del (6174delT) in BRCA2, are commonly encountered. It has been suggested by some authors that screening for founder mutations should be undertaken in all Brazilian women with breast cancer. Thus, the goal of this study was to determine the prevalence of three founder mutations, commonly identified in Ashkenazi individuals in a sample of non-Ashkenazi cancer-affected Brazilian women with clearly defined risk factors for hereditary breast and ovarian cancer (HBOC) syndrome. Among 137 unrelated Brazilian women from HBOC families, the BRCA1c.5266dup mutation was identified in seven individuals (5%). This prevalence is similar to that encountered in non-Ashkenazi HBOC families in other populations. However, among patients with bilateral breast cancer, the frequency of c.5266dup was significantly higher when compared to patients with unilateral breast tumors (12.1% vs 1.2%, p = 0.023). The BRCA1 c.68_69del and BRCA2 c.5946del mutations did not occur in this sample. We conclude that screening non-Ashkenazi breast cancer-affected women from the ethnically heterogeneous Brazilian populations for the BRCA1 c.68_69del and BRCA2 c.5946del is not justified, and that screening for BRCA1c.5266dup should be considered in high risk patients, given its prevalence as a single mutation. In high-risk patients, a negative screening result should always be followed by comprehensive BRCA gene testing. The finding of a significantly higher frequency of BRCA1 c.5266dup in women with bilateral breast cancer, as well as existence of other as yet unidentified founder mutations in this population, should be further assessed in a larger well characterized high-risk cohort.
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Registered trials
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