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Introduction: Mammary gland carcinoma is a worldwide public health problem; between 5% and 10% of the cases present familial aggregation explained by genes of high risk such as BRCA1 and BRCA2. The founding origin of the deletion BRCA1 3450del4 in Colombia has been previously reported.

Objective: Carry out in six families of "Tolima Grande", a descriptive analysis of the presence of the BRCA1 3450del4 mutation, associated with mammary gland carcinoma and familial aggregation.

Materials and methods: Descriptive and cross-sectional study, 6 index cases with mammary gland carcinoma positive for BRCA1 3450del4, that fulfilled three of the criteria established by Jalkh. From the information of the interview data, the familiograms were made (Genopro (R) vs 2016). The mutation was typified in healthy and affected relatives who agreed to participate.

Results: 30 individuals of 78 analyzed for …