The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry |
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| Authors: | A. Peixoto C. Santos P. Pinto M. Pinheiro P. Rocha C. Pinto S. Bizarro I. Veiga A.S. Principe S. Maia F. Castro R. Couto A. Gouveia M.R. Teixeira |
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| Affiliation: | 1. Department of Genetics;2. Department of Surgical Oncology;3. Department of Medical Oncology;4. Department of Gynecology, Portuguese Oncology Institute, Porto, Portugal;5. Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal |
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| 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. |
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| Keywords: | BRCA1/BRCA2 genes founder mutations genetic testing criteria and strategy Portuguese ancestry |
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