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rs2273535

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome20
Position56386485
GeneAURKA
is asnp
is mentioned by
dbSNPrs2273535
ebirs2273535
HLIrs2273535
Exacrs2273535
Varsomers2273535
Maprs2273535
PheGenIrs2273535
hapmaprs2273535
1000 genomesrs2273535
hgdprs2273535
ensemblrs2273535
gopubmedrs2273535
geneviewrs2273535
scholarrs2273535
googlers2273535
pharmgkbrs2273535
gwascentralrs2273535
openSNPrs2273535
23andMers2273535
23andMe allrs2273535
SNP Nexus

SNPshotrs2273535
SNPdbers2273535
MSV3drs2273535
GWAS Ctlgrs2273535
GMAF0.3163
Max Magnitude2.1
? (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]

Neighborrs1047972
Distance78
[PMID 18431743OA-icon.png] 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
OMIM603072
Desc
Variant0001
Relatedalso


[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 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.


[PMID 17505013OA-icon.png] 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 18854777OA-icon.png] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.


[PMID 19551141OA-icon.png] Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma.


[PMID 20922573OA-icon.png] Functional polymorphisms associated with disease-free survival in resected carcinoma of the esophagus.


GET Evidence
AURKA-F31I
aa_change Phe31Ile
aa_change_short F31I
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.187581
summary The AURKA (STK15) 91T->A variant is preferentially amplified and linked to the degree of aneuploidy in colon tumors. The variant is a low-penetrance cancer susceptibility allele associated with multiple cancer types.



[PMID 24252226] STK15 rs2273535 polymorphism and cancer risk: A meta-analysis of 74,896 subjects


[PMID 25253995OA-icon.png] 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.