Cathepsin B (CTS B) is a proteolytic enzyme that participates in
several important biological processes.
However, when it is altered can be involved in development of breast cancer, a
disease with high incidence and mortality rate among women. Many studies have
shown a correlation between high CTS B expression and breast tumor.
Furthermore, it has been shown that the SNP rs1803250 (S53G) leads to
structural and functional changes in protein that can make it pathogenic. The
present study aimed to evaluate a possible association of SNP rs1803250 (S53G)
with breast cancer. For this, real-time PCR was performed on a sample collected
in the State of Pará, with 127 patients and 122 controls. The SNP frequency in
this region was 0.12, according to a research project in progress that aims to
identify Amerindians molecular alterations. This indicates that the SNP is
found in region with a distribution close to worldwide frequency of 0.09. Our
results showed that the SNP was in Hardy-Weinberg Equilibrium in collected
sample, but C variant allelic frequency was 0.08 in
both patients and control groups, which is extremely similar to global average.
Moreover, homozygotes CC was not found in the sample and SNP genotypes
frequency in patients and control groups was not significantly different. In
addition, statistical analysis showed that the SNP did not have to correlate with tumor subtypes nor with tumor staging. Therefore,
according to the analyzed sample, the SNP rs1803250 has no association with
breast cancer and it cannot be considered a molecular biomarker for breast
cancer.
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