IMR Press / EJGO / Volume 30 / Issue 5 / pii/2009128

European Journal of Gynaecological Oncology (EJGO) is published by IMR Press from Volume 40 Issue 1 (2019). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with S.O.G.

Original Research

Mutational analysis of BRCA1 and BRCA2 genes in Mexican breast cancer patients

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1 Laboratory of Molecular Genetics and Pharmacogenetics, Instituto Nacional de Cancerologia (Mexico)
2 Department of Mamary Tumors, Instituto Nacional de Cancerologia (Mexico)
3 Unidad de Investigación Biomédica en Cáncer, Instituto de Investigaciones Biomédicas, UNAM/Instituto Nacional de Cancerología (Mexico)
Eur. J. Gynaecol. Oncol. 2009, 30(5), 527–530;
Published: 10 October 2009

 Germline mutations in the BRCA1 and BRCA2 genes predispose to breast and ovarian cancer. A variable incidence of mutations has been reported for these genes. The contribution of BRCA1 and BRCA2 mutations to Mexican women with breast and/or ovarian cancer is not known. Because of the increasing prevalence of breast cancer in this population, it is necessary to study the presence of muta-tions in both genes. We screened BRCA1 and BRCA2 genes in 40 patients: 29 patients with a history of breast and/or ovarian cancer, and 11 patients with early-onset breast cancer (< 40 years), through denaturing high performance liquid chromatography analyses. We found two frameshift mutations in BRCA1 and one missense mutation in each gene. Additionally we found several intronic variants as well as synonymous mutations. We found 5% of deleterious mutations in the BRCA genes.  Larger studies are needed to establish the significance and prevalence of BRCA mutations among Mexican women. 

Familial breast cancer
Early onset breast cancer
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