Abstract
BackgroundThere are very few data about the mutational profile of families at-risk for hereditary breast and ovarian cancer (HBOC) from Latin America (LA) and especially from Brazil, the largest and most populated country in LA.ResultsOf the 349 probands analyzed, 21.5% were BRCA1/BRCA2 mutated, 65.3% at BRCA1 and 34.7% at BRCA2 gene. The mutation c.5266dupC (former 5382insC) was the most frequent alteration, representing 36.7% of the BRCA1 mutations and 24.0% of all mutations identified. Together with the BRCA1 c.3331_3334delCAAG mutation, these mutations constitutes about 35% of the identified mutations and more than 50% of the BRCA1 pathogenic mutations. Interestingly, six new mutations were identified. Additionally, 39 out of the 44 pathogenic mutations identified were not previously reported in the Brazilian population. Besides, 36 different variants of unknown significance (VUS) were identified. Regarding ancestry, average ancestry proportions were 70.6% European, 14.5% African, 8.0% Native American and 6.8% East Asian.Materials and methodsThis study characterized 349 Brazilian families at-risk for HBOC regarding their germline BRCA1/BRCA2 status and genetic ancestry.ConclusionsThis is the largest report of BRCA1/BRCA2 assessment in an at-risk HBOC Brazilian population. We identified 21.5% of patients harboring BRCA1/BRCA2 mutations and characterized the genetic ancestry of a sample group at-risk for hereditary breast cancer showing once again how admixed is the Brazilian population. No association was found between genetic ancestry and mutational status. The knowledge of the mutational profile in a population can contribute to the definition of more cost-effective strategies for the identification of HBOC families.
Highlights
Breast cancer (BC) constitutes the leading cause of cancer mortality among Brazilian women
This is the largest report of BRCA1/BRCA2 assessment in an atrisk hereditary breast and ovarian cancer (HBOC) Brazilian population
We identified 21.5% of patients harboring BRCA1/ BRCA2 mutations and characterized the genetic ancestry of a sample group at-risk for www.impactjournals.com/oncotarget hereditary breast cancer showing once again how admixed is the Brazilian population
Summary
Breast cancer (BC) constitutes the leading cause of cancer mortality among Brazilian women. A higher incidence occurs in Southeastern Brazil, with an estimated risk of 71 new cases/year per 100,000 women [1]. In Brazil, there are few services specialized in identifying and monitoring families at-risk for hereditary cancer. These services are mainly concentrated in capital cities of some Brazilian states, limiting or at least hindering the access of a great share of the population living in more remote areas [4,5,6]. There are very few data about the mutational profile of families at-risk for hereditary breast and ovarian cancer (HBOC) from Latin America (LA) and especially from Brazil, the largest and most populated country in LA
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