Recently, it has been reported that the pathogenicity of this mutation with regard to prostate cancer risk is modified by a missense variant of the same gene (E185Q).
The pathogenicity of this mutation, with regards to both prostate cancer risk and survival, is modified by a missense variant of the same gene (E185Q).
Our results suggest for the first time that rs1805794 GG genotype appears to be associated with a higher risk for advanced prostate cancer, thus, suggesting a possible new role for NBS1 in prostate cancer progression.
The S706X mutation truncates the protein in a highly conserved region of NBN near the MRE11 binding site, thus suggesting a role for rare NBN mutations in prostate cancer susceptibility.