| Full text | |
| Author(s): Show less - |
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: Show less - | [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 |