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. 2020 May 20;43(2):e20190072.
doi: 10.1590//1678-4685-GMB-2019-0072. eCollection 2020.

Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer

Renan Gomes  1 , Barbara Luisa Soares  1 , Paula Silva Felicio  2 , Rodrigo Michelli  2 , Cristina B O Netto  3 , Barbara Alemar  4   5 , Patrícia Ashton-Prolla  4   5 , Edenir Inêz Palmero  2   6 , Miguel Ângelo Martins Moreira  1
Affiliations

Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer

Renan Gomes et al. Genet Mol Biol. .

Abstract

Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also found in other populations. In Brazil, this mutation corresponds to 20% of pathogenic BRCA1 variants reported. Our objective was to investigate the haplotype component of a group of Brazilian families who inherited c.5266dupC in the BRCA1 gene and to verify the ancestry contribution from European, African, and Amerindian origins. Fourteen probands carrying c.5266dupC and 16 relatives (carriers and non-carriers) were investigated. The same haplotype was observed segregating within all the families analyzed, revealing no recombinants in a region of 0.68 Mb. Ancestry analysis demonstrated that the European component was predominant among probands. The BRCA1 c.5266dupC analysis indicates that there was a founder effect in the Brazilian population.

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Conflict of interest statement

Conflict of Interest: The authors declare no conflict of interest.

Figures

Figure 1
Figure 1. Ancestry components of the 14 probands analyzed. Ancestry analysis was performed to investigate the contribution of African (AFR), European (EUR), East Asian (EAS), and Native American (AME) populations in our probands.
See this image and copyright information in PMC

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