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

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 for BRCA1 185delAG and 5382insC were 0.78 and 0 respectively, and 0.4 for the BRCA2 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.

Tratamento cirúrgico reconstrutivo de cancêr de mama bilateral: relato de caso e revisão bibliográfica / Therapeutic surgery in bilateral breast cancer case report and bibliography

Introdução: O câncer de mama é um dos tipos mais comuns de câncer na mulher, sendo a mastectomia radical uma das terapias utilizadas. Objetivo: é relatar um caso em que, na presença de neoplasia mamária metacrônica. Método: Por ter apresentado particularidades, optou-se pela reconstrução autóloga da mama nos dois momentos de apresentação desta neoplasia. Discusão: A reconstrução autóloga da mama, por recriar uma mama natural e simétrica, é uma opção que ajuda na recuperação da auto-estima e no sentimento de bem estar. Em casos onde se faz necessário uma segunda mastectomia, o uso de retalhos diferentes do retalho TRAM se faz necessário, sendo fundamental o domínio de outras técnicas. São discutidas as opções de reconstrução mamária apresentadas neste caso. Conclusão: A aplicação de retalhos miocutâneos na reconstrução de mama , em câncer metacrônico, com bom favoráveis.

Background: The breast cancer is one of the most common type of cancer in women, and among therapeutic possibilities, radical mastectomy is an option commonly used. Objective: we report a case in which the presence of metachronous breast cancer. Methods: Representing these particularities. Discussion: Autologous breast reconstruction, for recreating a natural and symmetrical mamma, is an option that helps in the recovery of the self-esteem and in the feeling of well being. In cases where is necessary a second mastectomy, the use of different flaps from TRAM flap is ade necessary, being fundamental the knowledge ofo thertechniques.wereport a case in which the presence of metachronous breast cancer was opted for the autologous reconstruction in the two moments of the presentation of this neoplasia. The options of mammary reconstruction are discussed in this case. Conclusion: The miocutaneous flap use in breast reconstruction, in a metachronous breast cancer case, with good results.