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Dillenburg,Crisle Vignol; Bandeira,Isabel Cristina; Tubino,Taiana Valente; Rossato,Luciana Grazziotin; Dias,Eleonora Souza; Bittelbrunn,Ana Cristina; Leistner-Segal,Sandra. |
Certain mutations in BRCA1 and BRCA2 genes are frequent in the Ashkenazi Jewish population. Several factors contribute to this increased frequency, including consanguineous marriages and an event known as a "bottleneck', which occurred in the past and caused a drastic reduction in the genetic variability of this population. Several studies were performed over the years in an attempt to elucidate the role of BRCA1 and BRCA2 genes in susceptibility to breast cancer. The aim of this study was to estimate the carrier frequency of certain common mutations in the BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) genes in an Ashkenazi Jewish population from Porto Alegre, Brazil. Molecular analyses were done by PCR followed by RFLP (ACRS). The carrier frequencies... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Ashkenazi Jews; Breast cancer; BRCA1; BRCA2; Mutation. |
Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400009 |
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