The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry

• Tipo: Artigo em Revista Científica Internacional
• Data: 2015

Autores

Peixoto, A (Autor) Outra; Santos, C (Autor) Outra; Pinto, P (Autor) Outra; Pinheiro, M (Autor) Outra; Rocha, P (Autor) Outra; Pinto, C (Autor) Outra; Bizarro, S (Autor) Outra; Veiga, I (Autor) Outra; Principe, AS (Autor) Outra; Maia, S (Autor) Outra; Castro, F (Autor) Outra; Couto, R (Autor) Outra; Gouveia, A (Autor) Outra; Manuel R Teixeira (Autor) ICBAS

Revista

Título: Clinical Genetics

Vol. 88

Páginas: 41-48

ISSN: 0009-9163

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 19 Citações

Scopus - 19 Citações

Outras Informações

ID Authenticus: P-00G-62P

DOI: 10.1111/cge.12441

Abstract (EN): 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 prioriBRCAPRO 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 8