Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/58136
Título: | Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast |
Autor(es): | Felicio, Paula Silva Alemar, Barbara Coelho, Aline Silva Berardinelli, Gustavo Noriz Melendez, Matias Eliseo Lengert, André Van Helvoort Miche Lli, Rodrigo Depieri Reis, R. M. Fernandes, Gabriela Carvalho Ewald, Ingrid Petroni Bittar, Camila Matzenbacher Netto, Cristina Brinckmann Oliveira Artigalas, Osvaldo Peixoto, Ana Pinheiro, Manuela Teixeira, Manuel R. Vargas, Fernando Regla Dos Santos, Anna Cláudia Evangelista Moreira, Miguel Angelo Martins Ashton-Prolla, Patricia Palmero, Edenir Inêz |
Palavras-chave: | BRCA2 HBOC Genetic screening Alu elements |
Data: | Dez-2018 |
Editora: | Elsevier 1 |
Revista: | Cancer Genetics |
Citação: | Felicio, P. S., Alemar, B., Coelho, A. S., et. al. (2018). Screening and characterization of BRCA2 c. 156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast. Cancer genetics, 228, 93-97 |
Resumo(s): | 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. |
Tipo: | Artigo |
Descrição: | Accepted manuscript |
URI: | https://hdl.handle.net/1822/58136 |
DOI: | 10.1016/j.cancergen.2018.09.001 |
ISSN: | 2210-7762 |
Versão da editora: | https://www.sciencedirect.com/science/article/pii/S2210776218300590 |
Arbitragem científica: | yes |
Acesso: | Acesso restrito autor |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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felicio2018.pdf Acesso restrito! | 655,33 kB | Adobe PDF | Ver/Abrir |