OBJECTIVE:

To describe the frequency of the TMPRSS2 gene and its variants in a prostate cancer-free Southwestern Colombian population.

MATERIALS AND METHODS:

An observational study was conducted that included cancer-free persons, regardless of age, from Southwestern Colombia. Blood samples were drawn from the patients for DNA extraction. Blood drops were collected and dried on filters and immersed in phosphate buffer, utilizing the DNeasy kit. The preparation process was carried out using the TruSeq Exome Library Prep® kit and the resulting libraries were normalized with the TruSeq Rapid Exome® kit. The commercial kits were provided by Illumina®. We sequenced the full exome and identified the variants associated with the TMPRSS2 gene. Descriptive statistics were employed for the data analysis.

RESULTS:

The study population was made up of 162 persons from whom 7,315,466 sequence data were obtained. The TMPRSS2 gene was found in 414 data (4.3%). The most common SNP was rs140530035 (32.1%) and the most relevant SNP sequenced was rs12329760 (10.6%).

CONCLUSION:

TMPRSS2 was not frequent in the population studied. The most important polymorphism associated with the TMPRSS2 gene was rs12329760.