Have questions? Visit https://www.reddit.com/r/SNPedia

rs2981582

From SNPedia

T allele increases risk of breast cancer
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) 3 1.3x higher risk of ER+ breast cancer
(T;T) 3.2 1.7x higher risk of ER+ breast cancer
ReferenceGRCh38 38.1/142
Chromosome10
Position121592803
GeneFGFR2
is asnp
is mentioned by
dbSNPrs2981582
ebirs2981582
Exacrs2981582
Maprs2981582
PheGenIrs2981582
hapmaprs2981582
1000 genomesrs2981582
hgdprs2981582
ensemblrs2981582
gopubmedrs2981582
geneviewrs2981582
scholarrs2981582
googlers2981582
pharmgkbrs2981582
gwascentralrs2981582
openSNPrs2981582
23andMers2981582
23andMe allrs2981582
SNP Nexus

SNPshotrs2981582
SNPdbers2981582
MSV3drs2981582
GWAS Ctlgrs2981582
GMAF0.405
Max Magnitude3.2
? (C;C) (C;T) (T;T) 28
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

rs2981582 in the FGFR2 gene was one of the four strongest associations found in a genome-wide association study (GWAS) of over 4,000 breast cancer samples. [PMID 17529967OA-icon.png]

[PMID 18437204OA-icon.png] The T allele was more strongly related to ER-positive (per-allele odds ratio 1.31 (CI: 1.27-1.36)) than ER-negative (odds ratio 1.08 (CI:1.03-1.14)) disease (p for heterogeneity = 10(-13)).

[PMID 18579814] While on its own still of fairly small effect, this was the most significant of 7 SNPs to help estimate risk of breast cancer. Family history and/or BRCA1 or BRCA2 testing status are more significant factors, which were not part of this panel.

[PMID 18845558] Based on a study of 1,049 Chinese breast cancer patients, carriers of risk alleles at three SNPs (rs2981582, rs1219648 and rs2420946) were at 1.36x increased risk for breast cancer (CI: 1.13-1.62, p = 0.001).

[PMID 18973230OA-icon.png] A study of 1,173 Caucasian ovarian cancer patients did not find strong support for an association.

[PMID 19005751] Confirmed in 988 sporadic breast cancer cases and 1,016 controls from the West of Ireland to be associated with increased risk (odds ratio 1.22, p(allelic) = 2.2 x 10e-3)

[PMID 19028704OA-icon.png] A study of 1,225 Caucasian breast cancer patients found a significant association with rs2981582 but only in women with estrogen receptor positive (ER+), progesterone receptor positive (PR+) and HER2/Neu negative (HER2-) tumors.

Neighborrs2420946
Distance993
GWAS
SNP rs2981582
PubMedID [PMID 17529967OA-icon.png]
Condition Breast cancer
Gene FGFR2
Risk Allele G
pValue 2.00E-076
OR 1.26
95% CI 1.23-1.30


[PMID 19536173OA-icon.png] Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia

OMIM114480
DescBREAST CANCER
Variant
Relatedalso
OMIM176943
DescFIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
Variant
Relatedalso



[PMID 20664043] Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci

[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 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 21748294] Correlation of breast cancer susceptibility loci with patient characteristics, metastasis-free survival, and mRNA expression of the nearest genes


[PMID 21767389OA-icon.png] Allele-Specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10


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


[PMID 21822685] Genetic variants of fibroblast growth factor receptor 2 (FGFR2) are associated with breast cancer risk in Chinese women of the Han nationality


[PMID 22053997OA-icon.png] Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

[PMID 17997823OA-icon.png] Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases.

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

[PMID 18285324OA-icon.png] Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk.

[PMID 18326623OA-icon.png] Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.

[PMID 18462018OA-icon.png] Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer.

[PMID 18478591OA-icon.png] Studies of genes in the FGF signaling pathway and oral clefts with or without dental anomalies.

[PMID 18535005OA-icon.png] The search for genes contributing to endometriosis risk.

[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 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 19219042OA-icon.png] Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.

[PMID 19223389OA-icon.png] FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.

[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 19454617OA-icon.png] Genetic variation in the chromosome 17q23 amplicon and breast cancer risk.

[PMID 19497954OA-icon.png] Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer.

[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 19738052OA-icon.png] A risk variant in an miR-125b binding site in BMPR1B is associated with breast cancer pathogenesis.

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

[PMID 20085711OA-icon.png] Leveraging genetic variability across populations for the identification of causal variants.

[PMID 20126254OA-icon.png] Rare variants create synthetic genome-wide associations.

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

[PMID 20193855OA-icon.png] rs2981582 is associated with FGFR2 expression in normal breast.

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

[PMID 20299982OA-icon.png] Evaluating cancer epidemiologic risk factors using multiple primary malignancies.

[PMID 20300826] Current evidence on the relationship between three polymorphisms in the FGFR2 gene and breast cancer risk: a meta-analysis.

[PMID 20364400] Quantitative assessment of the effect of FGFR2 gene polymorphism on the risk of breast cancer.

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

[PMID 20677155] [Association of FGFR2 gene polymorphism with estrogen receptor positive breast cancer detected by fluorescent quantitative PCR].

[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
rs2981582
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.554688
summary



[PMID 22269215OA-icon.png] Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women


[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


[PMID 23468243] Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy.


[PMID 23912956OA-icon.png] Associations with growth factor genes (FGF1, FGF2, PDGFB, FGFR2, NRG2, EGF, ERBB2) with breast cancer risk and survival: the Breast Cancer Health Disparities Study


[PMID 24054997OA-icon.png] Association between rs2981582 polymorphism in the FGFR2 gene and the risk of breast cancer in Mexican women.


[PMID 24054997OA-icon.png] Association between rs2981582 polymorphism in the FGFR2 gene and the risk of breast cancer in Mexican women.


[PMID 24125968] An investigation of the effects of FGFR2 and B7-H4 polymorphisms in breast cancer


[PMID 24171766OA-icon.png] Common low-penetrance risk variants associated with breast cancer in Polish women


[PMID 24454457OA-icon.png] Case-control study on the fibroblast growth factor receptor 2 gene polymorphisms associated with breast cancer in chinese han women


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


[PMID 22926736] Low penetrance alleles as risk modifiers in familial and sporadic breast cancer.


[PMID 22965832] Association of common genetic variants with breast cancer risk and clinicopathological characteristics in a Chinese population.


[PMID 23143756] Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status.


[PMID 23184080] Assessing interactions between the associations of fibroblast growth factor receptor 2 common genetic variants and hormone receptor status with breast cancer risk.


[PMID 23462807OA-icon.png] Single-nucleotide polymorphisms associated with outcome in metastatic renal cell carcinoma treated with sunitinib.


[PMID 26070784OA-icon.png] Genetic risk variants associated with in situ breast cancer


[PMID 26911390] TNRC9 rs12443621 and FGFR2 rs2981582 polymorphisms and breast cancer risk.