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rs889312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;C) 1.1 Very slightly higher risk for breast cancer
(C;C) 1.1 Very slightly higher risk for breast cancer
ReferenceGRCh38 38.1/141
Chromosome5
Position56736057
is asnp
is mentioned by
dbSNPrs889312
ebirs889312
HLIrs889312
Exacrs889312
Varsomers889312
Maprs889312
PheGenIrs889312
hapmaprs889312
1000 genomesrs889312
hgdprs889312
ensemblrs889312
gopubmedrs889312
geneviewrs889312
scholarrs889312
googlers889312
pharmgkbrs889312
gwascentralrs889312
openSNPrs889312
23andMers889312
23andMe allrs889312
SNP Nexus

SNPshotrs889312
SNPdbers889312
MSV3drs889312
GWAS Ctlgrs889312
GMAF0.3898
Max Magnitude1.1
? (A;A) (A;C) (C;C) 28
rs889312 is a SNP near the MAP3K1 gene.

rs889312 was one of the four strongest associating SNPs found in a genome-wide association study of over 4,000 breast cancer samples. [PMID 17529967OA-icon.png]. From a DeCode user report, it appears that the risk allele is C; this A;A individual reportedly has 0.93x risk of breast cancer. [PMID 17529967OA-icon.png]

In a study of 1,267 breast cancer patients, rs889312 heterozygotes and minor allele homozygotes were less likely to be lymph node positive at breast cancer diagnosis (P = 0.044) relative to major allele homozygote carriers. [PMID 17997823OA-icon.png]

A meta-analysis including 26,015 cases and 33,962 controls concludes that the rs889312(C) allele is clearly a significant - but quite weak - contributor to increased risk for breast cancer.[PMID 20809358]

[PMID 18437204OA-icon.png] breast cancer

  • rs2981582, rs3803662, and rs889312) showed weak but significant associations with ER-negative disease, the strongest association being for rs3803662 in TNRC9 (1.14 (1.09-1.21))
GWAS
SNP rs889312
PubMedID [PMID 17529967OA-icon.png]
Condition Breast cancer
Gene MAP3K1
Risk Allele A
pValue 7.00E-020
OR 1.13
95% CI 1.10-1.16


OMIM114480
DescBREAST CANCER
Variant
Relatedalso
OMIM600982
DescMITOGEN-ACTIVATED KINASE KINASE KINASE 1; MAP3K1
Variant
Relatedalso
[PMID 19843670OA-icon.png] Association of Breast Cancer Susceptibility Variants with Risk of Pancreatic Cancer



[PMID 20145138] Common genetic variants associated with breast cancer and mammographic density measures that predict disease

GWAS snp
PMID [PMID 20453838OA-icon.png]
Trait Breast cancer
Title Genome-wide association study identifies five new breast cancer susceptibility loci
Risk Allele C
P-val 5E-9
Odds Ratio 1.22 [1.14-1.30]

[PMID 20054709] Birth weight, breast cancer susceptibility loci, and breast cancer risk

[PMID 20699374OA-icon.png] Evaluation of Breast Cancer Susceptibility Loci in Chinese Women



[PMID 21197568] Risk of genome-wide association study newly identified genetic variants for breast cancer in Chinese women of Heilongjiang Province


[PMID 21415360] Common genetic variants associated with breast cancer in Korean women and differential susceptibility according to intrinsic subtype


[PMID 21445572] Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies


[PMID 21475998OA-icon.png] Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States


[PMID 21791674OA-icon.png] Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium

[PMID 21996731] Relevant data indicate that SNP rs889312 in MAP3K1 is correlated with BC susceptibility only in BRCA2 mutation carriers, but is not associated with an increased risk in BRCA1 carriers.


[PMID 22452962OA-icon.png] A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study


[PMID 22468730] Multilocus Analysis of Candidate Genes Involved in Neurogenic Inflammation in Pediatric Asthma and Related Phenotypes: A Case-Control Study


[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 18612136OA-icon.png] Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.


[PMID 18681954OA-icon.png] Breast cancer susceptibility loci and mammographic density.


[PMID 18708391OA-icon.png] Breast cancer risk polymorphisms and interaction with ionizing radiation among U.S. radiologic technologists.


[PMID 18772892OA-icon.png] Can genes for mammographic density inform cancer aetiology?


[PMID 18785201OA-icon.png] Novel breast cancer risk alleles and endometrial cancer risk.


[PMID 18973230OA-icon.png] Breast cancer susceptibility alleles and ovarian cancer risk in 2 study populations.


[PMID 19028704OA-icon.png] Hormone-dependent effects of FGFR2 and MAP3K1 in breast cancer susceptibility in a population-based sample of post-menopausal African-American and European-American women.


[PMID 19088016OA-icon.png] Genetic susceptibility loci for breast cancer by estrogen receptor status.


[PMID 19094228OA-icon.png] The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.


[PMID 19232126OA-icon.png] Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort.


[PMID 19304784OA-icon.png] Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study.


[PMID 19567422OA-icon.png] Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.


[PMID 19639606OA-icon.png] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.


[PMID 19931039OA-icon.png] Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty.


[PMID 20146796OA-icon.png] Familial relative risks for breast cancer by pathological subtype: a population-based cohort study.


[PMID 20237344OA-icon.png] Performance of common genetic variants in breast-cancer risk models.


[PMID 20484103OA-icon.png] Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women.


[PMID 20605201OA-icon.png] Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.


[PMID 21596841OA-icon.png] Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.


[PMID 22045194OA-icon.png] Combined effect of low-penetrant SNPs on breast cancer risk.


[PMID 22532573OA-icon.png] The role of genetic breast cancer susceptibility variants as prognostic factors.


GET Evidence
rs889312
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.65873
summary



[PMID 23225170] Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population

GWAS snp
PMID [PMID 23535729OA-icon.png]
Trait Breast cancer
Title Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
Risk Allele C
P-val 3E-36
Odds Ratio 1.12 [1.10-1.15]


[PMID 24340245OA-icon.png] Adiposity, inflammation, genetic variants and risk of post-menopausal breast cancer findings from a prospective-specimen-collection, retrospective-blinded-evaluation (PRoBE) design approach


[PMID 22910930OA-icon.png] Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians.


[PMID 23577780OA-icon.png] Associations between single-nucleotide polymorphisms and epidural ropivacaine consumption in patients undergoing breast cancer surgery.


[PMID 24759887OA-icon.png] A MAP3k1 SNP Predicts Survival of Gastric Cancer in a Chinese Population

GWAS snp
PMID [PMID 24493630OA-icon.png]
Trait Breast cancer (early onset)
Title A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age.
Risk Allele
P-val 1E-8
Odds Ratio 1.29 [NR]


[PMID 25529635] Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1


[PMID 27572905] Genetic variants in FGFR2 and TNRC9 genes are associated with breast cancer risk in Pakistani women.