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

• Type: Article in International Scientific Journal
• Date: 2015

Authors

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

Journal

Title: Clinical Genetics

Vol. 88

Pages: 41-48

ISSN: 0009-9163

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 19 Citations

Scopus - 19 Citations

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 8