Rs2273535

SNP rs2273535, also known as F31I or Phe31Ile, has been associated with increased risk for several cancers, in most cases when individuals are homozgyous for the risk allele, rs2273535(T), as oriented to the dbSNP entry.

A meta-analysis of almost 10,000 cases of breast, colon, ovarian, prostate, lung, esophageal and non-melanoma skin cancer, compared to an equal number of Caucasian controls, determined the following risks (i.e., odds ratios, OR) [PMID 15802297]:

• For colorectal cancer: OR for homozygotes of 1.5 (CI: 1.14-1.99)
• For breast cancer: OR for homozygotes of 1.35 (CI: 1.12-1.64)
• For any of the cancer types studied: OR for heterozygotes of 1.10 (CI: 1.03-1.18), OR for homozygotes of 1.40 (CI: 1.22-1.59)

In a Chinese population, breast cancer risk for rs2273535(T;T) homozygotes compared to the other two genotypes led to an odds ratio of 1.66 (CI: 1.29-2.12), and appeared to be more pronounced for younger patients. [PMID 15271856]

However, for lung cancer (among Caucasians), rs2273535(T;T) homozygotes have been reported to be at lower risk; specifically, an odds ratio of 0.63 (CI: 0.41-0.96) has been reported. [PMID 16926177]

[PMID 18431743] showed no association with ovarian cancer risk 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin ovarian cancer

[PMID 21598251] Genetic polymorphisms in AURKA and BRCA1 are associated with breast cancer susceptibility in a Chinese Han population

[PMID 21630024] Single nucleotide polymorphisms in the 20q13 amplicon genes in relation to breast cancer risk and clinical outcome

[PMID 21050672] Genetic variants of NPAT-ATM and AURKA are associated with an early adverse reaction in the gastrointestinal tract of patients with cervical cancer treated with pelvic radiation therapy