rs2273535
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common |
| (A;T) | 2 | slightly higher (~1.5x or less) risk for certain cancers |
| (T;T) | 2.1 | slightly higher (~1.5x or less) risk for certain cancers |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 56386485 |
| Gene | AURKA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2273535 |
| dbSNP (classic) | rs2273535 |
| ClinGen | rs2273535 |
| ebi | rs2273535 |
| HLI | rs2273535 |
| Exac | rs2273535 |
| Gnomad | rs2273535 |
| Varsome | rs2273535 |
| LitVar | rs2273535 |
| Map | rs2273535 |
| PheGenI | rs2273535 |
| Biobank | rs2273535 |
| 1000 genomes | rs2273535 |
| hgdp | rs2273535 |
| ensembl | rs2273535 |
| geneview | rs2273535 |
| scholar | rs2273535 |
| rs2273535 | |
| pharmgkb | rs2273535 |
| gwascentral | rs2273535 |
| openSNP | rs2273535 |
| 23andMe | rs2273535 |
| SNPshot | rs2273535 |
| SNPdbe | rs2273535 |
| MSV3d | rs2273535 |
| GWAS Ctlg | rs2273535 |
| GMAF | 0.3163 |
| Max Magnitude | 2.1 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
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
| ClinVar | |
|---|---|
| Risk | Rs2273535(T;T) |
| Alt | Rs2273535(T;T) |
| Reference | Rs2273535(A;A) |
| Significance | Other |
| Disease | Colon cancer |
| Variation | info |
| Gene | AURKA |
| CLNDBN | Colon cancer, susceptibility to |
| Reversed | 0 |
| HGVS | NC_000020.10:g.54961541A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007021.2, |
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 17505013] Aurora-A and p16 polymorphisms contribute to an earlier age at diagnosis of pancreatic cancer in Caucasians.
[PMID 18802780] Common genetic polymorphisms of AURKA and prostate cancer risk.
[PMID 18854777] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
[PMID 19551141] Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma.
[PMID 20922573] Functional polymorphisms associated with disease-free survival in resected carcinoma of the esophagus.
[PMID 24252226] STK15 rs2273535 polymorphism and cancer risk: A meta-analysis of 74,896 subjects
[PMID 25253995] Association between genetic polymorphisms in AURKA (rs2273535 and rs1047972) and breast cancer risk: a meta-analysis involving 37,221 subjects
[PMID 26925658] Association of CYP2E1, STK15 and XRCC1 Polymorphisms with Risk of Breast Cancer in Malaysian Women.
[PMID 27270838] Association of the AURKA and AURKC gene polymorphisms with an increased risk of gastric cancer.
[PMID 29333101] Variations in the AURKA Gene: Biomarkers for the Development and Progression of Hepatocellular Carcinoma.
[PMID 30174615] The Association Between AURKA Gene rs2273535 Polymorphism and Gastric Cancer Risk in a Chinese Population.
[PMID 33050100] Impact of Aurora Kinase A Polymorphism and Epithelial Growth Factor Receptor Mutations on the Clinicopathological Characteristics of Lung Adenocarcinoma.
