Introduction: Breast cancer is considered a worldwide public health problem, and, in Santander Province, Colombia, it is the first leading cause of morbidity and mortality by cancer in women. All cancers are considered genetic diseases, and mutations in BRCA (BReast CAncer) genes raises the risk for breast cancer by 60%-80%. The current study searched for the two most frequent BRCA1 mutations reported in the Breast Cancer Core Information database.
Objective: The presence of specific mutations (185delAG, exon 2 and 5382insC, exon 20) was determined for the BRCA1 gene in women with familial/hereditary breast cancer.
Materials and methods: The sample included 30 female patients using the oncology services in Bucaramanga, eastern Colombia; an informed consent, a questionnaire and a blood sample were obtained from each. The molecular analysis was done with PCR-Mismatch, to detect the insertion or eliminatation of a restriction site, and enzymatic digestion methods (Hinfl or Ddel).
Results: Two of the most frequent BRCA1 mutations in the international database were not found in the 30 patients studied.
Conclusion: Additional mutation screening techniques are necessary involving the entire BRCA1 gene, are necessary in order to better characterize the molecular epidemiology of breast cancer in Bucaramanga, Santander, Colombia.