Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early‐Onset and Familial Afro‐Colombian Patients with Breast Cancer

AbstractBackground.Inherited mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 (BRCA1/2) confer high risks of breast and ovarian cancer. In Colombian Hispanic families, four common BRCA1/2 founder mutations have previously been identified. Because nothing is known about the contribution of BRCA1/2 germline mutations to early‐onset and hereditary breast and/or ovarian cancer in Afro‐Colombians, we conducted the first study on 60 patients with early‐onset and familial breast cancer in this population.Materials and Methods.Screening for the four Colombian founder mutations BRCA1/c.3331_3334delCAAG, BRCA1/c.5123C > A, BRCA2/c.2806_2809delAAAC, and BRCA2/c.1763_1766delATAA was performed using mismatch polymerase chain reaction (PCR) analysis, PCR‐based restriction fragment length polymorphism analysis, and qualitative real‐time PCR. Mutations were confirmed by direct DNA sequencing.Results.The BRCA1 founder mutation c.5123C > A was identified in one family with breast and ovarian cancer (1/60, 1.7%). Three women were diagnosed with breast cancer, including one with bilateral disease at the ages of 30, 30/33, and 52 years and one woman with ovarian cancer at the age of 60 years.Conclusion.Our data showed a low prevalence of the BRCA1/2 founder mutations in Colombians of African descent, implying that these mutations should not be recommended for genetic screening programs in the Afro‐Colombian population.Implications for Practice.(a) Risk reduction intervention programs for women who are found to carry a BRCA1/2 mutation. (b) Implementation of prevention programs in inherited breast cancer. (c) Treatment addressing in patients with BRCA1/2 mutations.

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