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

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Felicio, Paula Silva ^[1] ; Alemar, Barbara ^{[2, 3]} ; Coelho, Aline Silva ^[1] ; Berardinelli, Gustavo Noriz ^[1] ; Melendez, Matias Eliseo ^[1] ; Lengert, Andre Van Helvoort ^[1] ; Miche Ili, Rodrigo Depieri ^[4] ; Reis, Rui M. ^{[5, 1, 6]} ; Fernandes, Gabriela Carvalho ^[1] ; Ewald, Ingrid Petroni ^[7] ; Bittar, Camila Matzenbacher ^{[2, 3]} ; Oliveira Netto, Cristina Brinckmann ^[8] ; Artigalas, Osvaldo ^[9] ; Peixoto, Ana ^[10] ; Pinheiro, Manuela ^[10] ; Teixeira, Manuel R. ^{[10, 11]} ; Vargas, Fernando Regla ^{[12, 13]} ; Evangelista dos Santos, Anna Claudia ^[14] ; Martins Moreira, Miguel Angelo ^[14] ; Ashton-Prolla, Patricia ^{[8, 2, 3]} ; Palmero, Edenir Inez ^{[1, 15]}

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^[1] Barretos Canc Hosp, Mol Oncol Res Ctr, R Antenor Duarte Villela 1331, BR-14784400 Barretos, SP - Brazil

^[2] Univ Fed Rio Grande do Sul, Programa Posgrad Genet & Biol Mol, Av Bento Goncalves, 9500 Predio 43323M, BR-91501970 Porto Alegre, RS - Brazil

^[3] HCPA, Lab Med Genome, Rua Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS - Brazil

^[4] Barretos Canc Hosp, Dept Oncogenet, R Antenor Duarte Villela 331, BR-14784400 Barretos, SP - Brazil

^[5] ICVS 3Bs PT Govt Associate Lab, Braga - Portugal

^[6] Univ Minho, Life & Hlth Sci Res Inst ICVS, Sch Hlth Sci, Campus Gualtar, P-4710057 Braga - Portugal

^[7] Santa Casa Misericordia Porto Alegre, Av Independencia 75, BR-90035072 Porto Alegre, RS - Brazil

^[8] Hosp Clin Porto Alegre, Serv Genet Med, Rua Ramiro Barcelos 2350, BR-90035903 Porto Alegre, RS - Brazil

^[9] Hosp Moinhos Vento, Rua Ramiro Barcelos 910, BR-91790560 Porto Alegre, RS - Brazil

^[10] Portuguese Oncol Inst, Dept Genet, P-4200072 Porto - Portugal

^[11] Univ Porto, Biomed Sci Inst Abel Salazar ICBAS, R Jorge Viterbo Ferreira 228, P-4050313 Porto - Portugal

^[12] Inst Oswaldo Cruz FIOCRUZ, Lab Epidemiol Malformacoes Congenitas, Rio De Janeiro - Brazil

^[13] Univ Fed Estado Rio De Janeiro, Rio De Janeiro - Brazil

^[14] Inst Nacl Canc, Genet Program, Rua Andre Cavalcanti 37, BR-20231050 Rio De Janeiro - Brazil

^[15] Barretos Sch Hlth Sci, Dr Paulo Prata Av Loja Macon Renovadora 68, BR-14785002 Barretos, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: CANCER GENETICS; v. 228, p. 93-97, DEC 2018.
• Citações Web of Science: 0

Resumo

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. (AU)

• Processo FAPESP: 13/24633-2 - Caracterização molecular de famílias de alto risco para câncer de mama hereditário, negativas para mutações nos genes BRCA1/BRCA2: à procura do BRCAx
• Beneficiário: Edenir Inêz Palmero
• Modalidade de apoio: Auxílio à Pesquisa - Regular