BRCA1 and BRCA2 mutations in a South American population

Cancer Genetics and Cytogenetics
Lilian JaraJosé Miguel Reyes

Abstract

A sample of 64 high-risk breast and/or ovarian cancer families from Chile were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIN no. 113705) and BRCA2 (MIN no. 600185) genes using conformation-sensitive gel electrophoresis, and the mutations found were confirmed with direct sequencing. Seven families (10.9%) were found to carry BRCA1 mutations and three families (4.7%) had BRCA2 mutations. Six different pathogenic mutations were detected in BRCA1, four that had been reported previously (c.187_188delAG; c.300T-->G, c.3450_3453delCAAG and IVS17-1G-->A) and two novel mutations (c.2605_2606delTT and c.4185_4188delCAAG). In BRCA2, we found three different pathogenic mutations, two previously described (c.6174delT and c.6503_6504delTT) and one novel mutation (c.5667delT). We also identified nine variants of unknown significance (five in BRCA1 and four in BRCA2). These findings indicate that the Chilean population has a heterogeneous spectrum of prevalent BRCA mutations. Given the results obtained in our study, the screening of the entire BRCA1 and BRCA2 coding regions is necessary for the molecular genetic testing of Chilean high-risk breast/ovarian cancer patients. To our knowledge, thi...Continue Reading

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Citations

Oct 26, 2006·Breast Cancer Research and Treatment·Magda C B GomesSteven A Narod
Sep 19, 2007·Breast Cancer Research and Treatment·Patricio González-HormazábalLilian Jara
Apr 1, 2009·Breast Cancer Research and Treatment·Diana TorresUte Hamann
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Aug 28, 2012·International Journal of Oncology·Srdjan NovakovićAleš Vakselj
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Sep 25, 2007·Cancer Genetics and Cytogenetics·Lilian JaraPatricio González-Hormazábal
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