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From SNPedia

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
is asnp
is mentioned by
1000 genomesrs889312
23andMe allrs889312
SNP Nexus

GWAS Ctlgrs889312
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))
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

[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
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.65873

[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.