dc.description.abstract | RNASEL (MIM# 180435) encodes for the ubiquitously expressed ribonuclease L
(RNase L), which mediates the antiviral and pro-apoptotic activities of the 2-5A system.
Recently, RNASEL Arg462Gln (G1385A) variant is shown to be implicated in up to
13% of prostate cancer cases. Furthermore, RNASEL mutations segregating with disease
within hereditary prostate cancer (HPC) families, and loss of heterozygosity (LOH) in
tumor tissues have been reported. RNase L has been proposed to suppress the
development of cancer through its ability to degrade RNA and initiate a cellular stress
that leads to apoptosis. Analysis for allelic losses at the long arm of the chromosome 1
suggested that inactivation of a gene(s) on 1q23-32, which encompasses the RNASEL
locus, might contribute to the genesis of breast cancer. Based on chromosomal location
and function of RNASEL, and pleitropic effects of cancer associated mutations, we south
to investigate the hypothesis that Arg462Gln variant of RNASEL is associated with
breast cancer risk. The homozygote mutant (odds ratio (OR) = 0.75, 95% CI= 0.49-
1.14), heterozygote (OR=1.02, 95% CI= 0.76-1.37), or the genotype having at least one
mutant allele (OR= 0.94, 95% CI=0.72-1.24) was found to be not associated with the
breast cancer risk. The adjustment of the data with age, menopausal, smoking status,
body-mass-index, age at menarche, age of 1st pregnancy, number of children, and family
history of breast cancer did not change the results (homozygote mutant (OR= 0.72, 95%
CI= 0.46-1.12), heterozygote (OR= 0.95, 95% CI= 0.70-1.29), or genotype having at
least one mutant allele (OR= 0.89, 95% CI= 0.66-1.18)). In conclusion, our study
reports no association between the RNASEL G1385A variant and breast cancer risk. | en_US |