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. 2018 Dec:228-229:93-97.
doi: 10.1016/j.cancergen.2018.09.001. Epub 2018 Oct 6.

Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast

Paula Silva Felicio  1 , Barbara Alemar  2 , Aline Silva Coelho  3 , Gustavo Noriz Berardinelli  4 , Matias Eliseo Melendez  5 , André Van Helvoort Lengert  6 , Rodrigo Depieri Miche Lli  7 , Rui M Reis  8 , Gabriela Carvalho Fernandes  9 , Ingrid Petroni Ewald  10 , Camila Matzenbacher Bittar  11 , Cristina Brinckmann Oliveira Netto  12 , Osvaldo Artigalas  13 , Ana Peixoto  14 , Manuela Pinheiro  15 , Manuel R Teixeira  16 , Fernando Regla Vargas  17 , Anna Cláudia Evangelista Dos Santos  18 , Miguel Angelo Martins Moreira  19 , Patricia Ashton-Prolla  20 , Edenir Inêz Palmero  21
Affiliations

Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast

Paula Silva Felicio et al. Cancer Genet. 2018 Dec.

Abstract

Portuguese immigration to Brazil occurred in several waves and greatly contributed to the genetic composition of current Brazilian population. In this study, we evaluated the frequency of a Portuguese founder Alu insertion in BRCA2 exon 3 (c.156_157insAlu) among individuals fulfilling Hereditary Breast and Ovarian Cancer (HBOC) syndrome criteria in 1,380 unrelated families originated from three distinct Brazilian States. We identified the c.156_157insAlu BRCA2 mutation in nine (9/1,380; 0.65%) probands analised. In carrier probands, European ancestry had the highest proportion (80%), followed by the African (10%) and Amerindian and in most families with the rearrangement, haplotype analyses were compatible with the Portuguese ancestral haplotype. In conclusion, the present study reports a low albeit relevant frequency of the Portuguese BRCA2 founder mutation c.156_157insAlu in Brazilian patients at-risk for HBOC Brazilian population.

Keywords: Alu elements; BRCA2; Genetic screening; HBOC.

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