Based on mouse studies, AURKA (STK15) was identified as a candidate skin tumor susceptibility gene. STK15 is frequently amplified in human colon cancers and other tumor types. The authors identified the STK15 91T->A variant and showed “statistically significant allele-specific amplification of the 91A allele (P = 0.018, chi squared test), providing additional evidence for the role of this allele in human cancer”. Individuals with even one copy of the 91A allele develop tumors with a higher degree of aneuploidy than homozygous 91T individuals.
Meta-analysis confirmed that the 91A polymorphism is a low-penetrance cancer susceptibility allele in several cancer types, with greater risk for the 91A homozygotes. When the results were combined in a meta-analysis, the authors “found an OR of 1.4 for the T+91A homozygotes (95% CI of 1.22—1.59, P-value < 0.001)” and a “modest but significant increase in risk in the T+91A heterozygotes (OR = 1.10, 95% CI 1.03—1.18, P-value = 0.006)”.