The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.
Clin Genet
; 88(1): 41-8, 2015 Jul.
Article
em En
| MEDLINE
| ID: mdl-24916970
ABSTRACT
We report the analysis of altogether 1050 suspected hereditary breast/ovarian cancer (HBOC) families, 524 fully screened for BRCA1/BRCA2 mutations and 526 tested only for the most common mutations. Of the 119 families with pathogenic mutations, 40 (33.6%) had the BRCA2 c.156_157insAlu rearrangement and 15 (12.6%) the BRCA1 c.3331_3334del mutation, the former being specific of Portuguese ancestry and the latter showing a founder effect in Portugal. Interestingly, the two most common mutations were found in a significant proportion of the HBOC families with an a priori BRCAPRO mutation probability <10%. We recommend that all suspected HBOC families from Portugal or with Portuguese ancestry, even those fulfilling moderately stringent clinical-criteria for genetic testing, should be specifically analyzed for the two most common BRCA1/BRCA2 founder mutations, and we here present a simple method for this first tier test. Screening of the entire coding regions of BRCA1 and BRCA2 should subsequently be offered to those families with a mutation probability ≥10% if none of those founder mutations are found.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
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Genes BRCA1
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Genes BRCA2
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Síndrome Hereditária de Câncer de Mama e Ovário
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
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Humans
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Male
/
Middle aged
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article