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

Autor: Felicio PS; Molecular Oncology Research Center, Barretos Cancer Hospital, R. Antenor Duarte Villela, 1331. Barretos 14784-400, São Paulo, Brazil. Electronic address: feliciops@hotmail.com., Alemar B; Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul. Av. Bento Gonçalves, 9500 - Prédio 43323M. Porto Alegre 91501-970, Rio Grande do Sul, Brazil; Laboratório de Medicina Genômica-Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos, 2350. Porto Alegre 90035-903, Rio Grande do Sul, Brazil. Electronic address: barbara.alemar@gmail.com., Coelho AS; Molecular Oncology Research Center, Barretos Cancer Hospital, R. Antenor Duarte Villela, 1331. Barretos 14784-400, São Paulo, Brazil. Electronic address: alinecoelhobiomed@gmail.com., Berardinelli GN; Molecular Oncology Research Center, Barretos Cancer Hospital, R. Antenor Duarte Villela, 1331. Barretos 14784-400, São Paulo, Brazil. Electronic address: gnoriz@gmail.com., Melendez ME; Molecular Oncology Research Center, Barretos Cancer Hospital, R. Antenor Duarte Villela, 1331. Barretos 14784-400, São Paulo, Brazil., Lengert AVH; Molecular Oncology Research Center, Barretos Cancer Hospital, R. Antenor Duarte Villela, 1331. Barretos 14784-400, São Paulo, Brazil. Electronic address: ahlengert@gmail.com., Miche Lli RD; Department of Oncogenetics, Barretos Cancer Hospital, R. Antenor Duarte Villela, 1331. Barretos 14784-400, São Paulo, Brazil., Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, R. Antenor Duarte Villela, 1331. Barretos 14784-400, São Paulo, Brazil; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Campus de Gualtar, Braga 4710-057, Portugal; ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal. Electronic address: ruireis.hcb@gmail.com., Fernandes GC; Molecular Oncology Research Center, Barretos Cancer Hospital, R. Antenor Duarte Villela, 1331. Barretos 14784-400, São Paulo, Brazil. Electronic address: gabriela.carvalhofernandes@gmail.com., Ewald IP; Santa Casa de Misericórdia de Porto Alegre. Av. Independência, 75. Porto Alegre 90035-072, Rio Grande do Sul, Brazil. Electronic address: ipewald@gmail.com., Bittar CM; Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul. Av. Bento Gonçalves, 9500 - Prédio 43323M. Porto Alegre 91501-970, Rio Grande do Sul, Brazil; Laboratório de Medicina Genômica-Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos, 2350. Porto Alegre 90035-903, Rio Grande do Sul, Brazil. Electronic address: camilambittar@gmail.com., Netto CBO; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre. Rua Ramiro Barcelos, 2350. Porto Alegre 90035-903, Rio Grande do Sul, Brazil. Electronic address: cbnetto@hcpa.edu.br., Artigalas O; Hospital Moinhos de Vento, Rua Ramiro Barcelos, 910. Porto Alegre 91790-560, Rio Grande do Sul, Brazil. Electronic address: artigalas@gmail.com., Peixoto A; Department of Genetics, Portuguese Oncology Institute, R. Dr António Bernardino de Almeida. Porto 4200-072, Portugal. Electronic address: anpeixoto@gmail.com., Pinheiro M; Department of Genetics, Portuguese Oncology Institute, R. Dr António Bernardino de Almeida. Porto 4200-072, Portugal. Electronic address: manuelap@ipoporto.min-saude.pt., Teixeira MR; Department of Genetics, Portuguese Oncology Institute, R. Dr António Bernardino de Almeida. Porto 4200-072, Portugal; Biomedical Sciences Institute Abel Salazar (ICBAS), University of Porto, R. Jorge de Viterbo Ferreira, 228, Porto 4050-313, Portugal. Electronic address: manuelteixeira@ipoporto.min-saude.pt., Vargas FR; Laboratório de Epidemiologia de Malformações Congênitas, Instituto Oswaldo Cruz (FIOCRUZ), Brazil; Universidade Federal do Estado do Rio de Janeiro, Brazil., Dos Santos ACE; Genetics Program, Instituto Nacional de Câncer, Rua André Cavalcanti, 37. Rio de Janeiro 20231-050, Rio de Janeiro, Brazil., Moreira MAM; Genetics Program, Instituto Nacional de Câncer, Rua André Cavalcanti, 37. Rio de Janeiro 20231-050, Rio de Janeiro, Brazil. Electronic address: miguelm@inca.gov.br., Ashton-Prolla P; Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul. Av. Bento Gonçalves, 9500 - Prédio 43323M. Porto Alegre 91501-970, Rio Grande do Sul, Brazil; Laboratório de Medicina Genômica-Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos, 2350. Porto Alegre 90035-903, Rio Grande do Sul, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre. Rua Ramiro Barcelos, 2350. Porto Alegre 90035-903, Rio Grande do Sul, Brazil. Electronic address: pprolla@gmail.com., Palmero EI; Molecular Oncology Research Center, Barretos Cancer Hospital, R. Antenor Duarte Villela, 1331. Barretos 14784-400, São Paulo, Brazil; Barretos School of Health Science, Dr. Paulo Prata. Av. Loja Maçonica Renovadora, 68. Barretos 14785-002, São Paulo, Brazil. Electronic address: edenirip@yahoo.com.br.
Jazyk: angličtina
Zdroj: Cancer genetics [Cancer Genet] 2018 Dec; Vol. 228-229, pp. 93-97. Date of Electronic Publication: 2018 Oct 06.
DOI: 10.1016/j.cancergen.2018.09.001
Abstrakt: 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.
(Copyright © 2018 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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