Abstract
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.KEYWORDS: Gene; Prostate cancer; TMPRSS2; Polymorphism.
Highlights
One of the most prevalent neoplastic pathologies associated with male sex is prostate cancer
The TMPRSS2 gene was found in 414 data (4.3%)
The TMPRSS2 gene and the fusion gene (TMPRSS2:ERG) have been associated with the severity and prognosis of prostate cancer, the actual pathophysiologic process or the variant associated with that condition are not very well known.[9]
Summary
One of the most prevalent neoplastic pathologies associated with male sex is prostate cancer. Variants of certain genes have been associated with a higher frequency of prostate cancer (BRCA1-2, ATM, NBN, TMPRSS2, among others).[7] Serine proteases, such as the TMPRSS2 gene, are recognized through their mechanisms of action in inflammatory and immune processes. Fusion with members of the ETS family is the most frequent chromosomal re-arrangement found in 50% of prostate cancers, mainly produced by the microdeletion of a portion of the TMPRSS2 gene.[8] The TMPRSS2 gene and the fusion gene (TMPRSS2:ERG) have been associated with the severity and prognosis of prostate cancer, the actual pathophysiologic process or the variant associated with that condition are not very well known.[9] The fusion gene has been widely studied and at present has been postulated as one of the most important biomarkers for diagnostic and prognostic purposes in the prostate cancer population.[10] There are reports in the literature on the single nucleotide polymorphisms (SNPs) most frequently related to those clinical scenarios
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