rs889312
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 56736057 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs889312 |
| dbSNP (classic) | rs889312 |
| ClinGen | rs889312 |
| ebi | rs889312 |
| HLI | rs889312 |
| Exac | rs889312 |
| Gnomad | rs889312 |
| Varsome | rs889312 |
| LitVar | rs889312 |
| Map | rs889312 |
| PheGenI | rs889312 |
| Biobank | rs889312 |
| 1000 genomes | rs889312 |
| hgdp | rs889312 |
| ensembl | rs889312 |
| geneview | rs889312 |
| scholar | rs889312 |
| rs889312 | |
| pharmgkb | rs889312 |
| gwascentral | rs889312 |
| openSNP | rs889312 |
| 23andMe | rs889312 |
| SNPshot | rs889312 |
| SNPdbe | rs889312 |
| MSV3d | rs889312 |
| GWAS Ctlg | rs889312 |
| GMAF | 0.3898 |
| Max Magnitude | 1.1 |
| ? | (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 17529967
]. 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 17529967]
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 17997823]
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]
- 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 17529967]
|
| Condition | Breast cancer |
| Gene | MAP3K1 |
| Risk Allele | A |
| pValue | 7.00E-020 |
| OR | 1.13 |
| 95% CI | 1.10-1.16 |
[PMID 19843670] 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 20453838]
|
| 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 20699374] 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 21475998] Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States
[PMID 21791674] 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 22452962] 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 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 18612136] Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.
[PMID 18681954] Breast cancer susceptibility loci and mammographic density.
[PMID 18708391] Breast cancer risk polymorphisms and interaction with ionizing radiation among U.S. radiologic technologists.
[PMID 18772892] Can genes for mammographic density inform cancer aetiology?
[PMID 18785201] Novel breast cancer risk alleles and endometrial cancer risk.
[PMID 18973230] Breast cancer susceptibility alleles and ovarian cancer risk in 2 study populations.
[PMID 19028704] 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 19088016] Genetic susceptibility loci for breast cancer by estrogen receptor status.
[PMID 19094228] The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.
[PMID 19232126] Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort.
[PMID 19304784] Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study.
[PMID 19567422] Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.
[PMID 19639606] Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.
[PMID 19931039] Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty.
[PMID 20146796] Familial relative risks for breast cancer by pathological subtype: a population-based cohort study.
[PMID 20237344] Performance of common genetic variants in breast-cancer risk models.
[PMID 20484103] Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women.
[PMID 20605201] Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.
[PMID 21596841] Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
[PMID 22045194] Combined effect of low-penetrant SNPs on breast cancer risk.
[PMID 22532573] The role of genetic breast cancer susceptibility variants as prognostic factors.
[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 23535729]
|
| 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 24340245] Adiposity, inflammation, genetic variants and risk of post-menopausal breast cancer findings from a prospective-specimen-collection, retrospective-blinded-evaluation (PRoBE) design approach
[PMID 22910930] Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians.
[PMID 23577780] Associations between single-nucleotide polymorphisms and epidural ropivacaine consumption in patients undergoing breast cancer surgery.
[PMID 24759887] A MAP3k1 SNP Predicts Survival of Gastric Cancer in a Chinese Population
| GWAS snp | |
|---|---|
| PMID | [PMID 24493630]
|
| 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.
[PMID 28757652] Genetic Breast Cancer Susceptibility Variants and Prognosis in the Prospectively Randomized SUCCESS A Study.
[PMID 29372690] Association of single nucleotide polymorphisms in FGF-RAS/MAP signalling cascade with breast cancer susceptibility.
[PMID 31002855] Predictive accuracy of the breast cancer genetic risk model based on eight common genetic variants: The BACkSIDE study.
[PMID 32366738] Low-penetrance susceptibility variants and postmenopausal oestrogen receptor positive breast cancer.
