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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
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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]
Total Authors: 21
Affiliation:
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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
Total Affiliations: 15
Document type: Journal article
Source: CANCER GENETICS; v. 228, p. 93-97, DEC 2018.
Web of Science Citations: 0
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. (AU)

FAPESP's process: 13/24633-2 - Molecular characterization of at high risk families for hereditary breast cancer, negatives for BRCA1/BRCA2: looking for the BRCAx
Grantee:Edenir Inêz Palmero
Support Opportunities: Regular Research Grants