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Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

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Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

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Título Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil
Autor Dillenburg, Criste Vignol
Bandeira, Isabel Cristina
Tubino, Taiana Valente
Rossato, Luciana Grazziotin
Dias, Eleonora Souza
Bittelbrunn, Ana Cristina da Costa
Leistner-Segal, Sandra
Abstract 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 theBRCA1 (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 for BRCA1 185delAG and 5382insC were 0.78 and 0 respectively, and 0.4 for theBRCA2 6174deT mutation. These findings are similar to those of some prior studies but differ from others, possibly due to excluding individuals with a personal or family history of cancer. Our sample was drawn from the community group and included individuals with or without a family or personal history of cancer. Furthermore, increased dispersion among Ashkenazi subpopulations may be the result of strong genetic drift and/or admixture. It is therefore necessary to consider the effects of local admixture on the mismatch distributions of various Jewish populations.
Contido em Genetics and molecular biology. Ribeirão Preto, SP. Vol. 35, no. 3 (2012), p. 599-602
Assunto Feminino
Genes BRCA1
Genes BRCA2
Judeus
Mutação
Neoplasias da mama
Porto Alegre (RS)
[en] Ashkenazi Jews
[en] BRCA1
[en] BRCA2
[en] Breast cancer
[en] Mutation
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/147456
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