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Clin Genet ; 78(4): 377-80, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20507347

RESUMO

Mutations in the BRCA1 gene increase susceptibility to both breast and ovarian cancer. In some countries, including several in Eastern Europe, founder mutations in the BRCA1 gene are responsible for a significant proportion of breast cancer cases. To estimate the hereditary proportion of breast cancer in Belarus, we sought the presence of any of three founder mutations in BRCA1 (4153delA, 5382insC and C61G) in 500 unselected cases of breast cancer. These mutations have previously been identified in breast/ovarian cancer families from Belarus and from other Slavic countries, including Poland and Russia. One of the three founder mutations in BRCA1 was present in 38 of 500 unselected cases of breast cancer (7.6%). A mutation was found in 12.6% of women diagnosed before age 50 and 5.6% of women diagnosed after age 50. A mutation was identified in 2 of 251 newborn controls (0.8%). The hereditary proportion of breast cancers in Belarus is among the highest of any countries studied to date.


Assuntos
Neoplasias da Mama/genética , Efeito Fundador , Genes BRCA1 , Mutação , Neoplasias Ovarianas/genética , Idade de Início , Neoplasias da Mama/epidemiologia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Testes Genéticos , Humanos , Neoplasias Ovarianas/epidemiologia , Reação em Cadeia da Polimerase , Prevalência , República de Belarus
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