rs2981582
| T allele increases risk of breast cancer |
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 121592803 |
| Gene | FGFR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2981582 |
| dbSNP (classic) | rs2981582 |
| ClinGen | rs2981582 |
| ebi | rs2981582 |
| HLI | rs2981582 |
| Exac | rs2981582 |
| Gnomad | rs2981582 |
| Varsome | rs2981582 |
| LitVar | rs2981582 |
| Map | rs2981582 |
| PheGenI | rs2981582 |
| Biobank | rs2981582 |
| 1000 genomes | rs2981582 |
| hgdp | rs2981582 |
| ensembl | rs2981582 |
| geneview | rs2981582 |
| scholar | rs2981582 |
| rs2981582 | |
| pharmgkb | rs2981582 |
| gwascentral | rs2981582 |
| openSNP | rs2981582 |
| 23andMe | rs2981582 |
| SNPshot | rs2981582 |
| SNPdbe | rs2981582 |
| MSV3d | rs2981582 |
| GWAS Ctlg | rs2981582 |
| GMAF | 0.405 |
| Max Magnitude | 3.2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
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 17529967
]
[PMID 18437204] 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 18973230] 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 19028704] 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.
| GWAS | |
|---|---|
| SNP | rs2981582 |
| PubMedID | [PMID 17529967]
|
| Condition | Breast cancer |
| Gene | FGFR2 |
| Risk Allele | G |
| pValue | 2.00E-076 |
| OR | 1.26 |
| 95% CI | 1.23-1.30 |
[PMID 19536173] Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia
[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 20699374] 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 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 21748294] Correlation of breast cancer susceptibility loci with patient characteristics, metastasis-free survival, and mRNA expression of the nearest genes
[PMID 21767389] Allele-Specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10
[PMID 21791674] 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 22053997] 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 17997823] Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases.
[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 18285324] Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk.
[PMID 18326623] Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.
[PMID 18462018] Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer.
[PMID 18478591] Studies of genes in the FGF signaling pathway and oral clefts with or without dental anomalies.
[PMID 18535005] The search for genes contributing to endometriosis risk.
[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 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 19219042] Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.
[PMID 19223389] FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.
[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 19454617] Genetic variation in the chromosome 17q23 amplicon and breast cancer risk.
[PMID 19497954] Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer.
[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 19738052] A risk variant in an miR-125b binding site in BMPR1B is associated with breast cancer pathogenesis.
[PMID 19931039] Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty.
[PMID 20085711] Leveraging genetic variability across populations for the identification of causal variants.
[PMID 20126254] Rare variants create synthetic genome-wide associations.
[PMID 20146796] Familial relative risks for breast cancer by pathological subtype: a population-based cohort study.
[PMID 20193855] rs2981582 is associated with FGFR2 expression in normal breast.
[PMID 20237344] Performance of common genetic variants in breast-cancer risk models.
[PMID 20299982] 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 20605201] 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 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 22269215] 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 23912956] 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 24054997] Association between rs2981582 polymorphism in the FGFR2 gene and the risk of breast cancer in Mexican women.
[PMID 24054997] 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 24171766] Common low-penetrance risk variants associated with breast cancer in Polish women
[PMID 24454457] Case-control study on the fibroblast growth factor receptor 2 gene polymorphisms associated with breast cancer in chinese han women
[PMID 22910930] 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 23462807] Single-nucleotide polymorphisms associated with outcome in metastatic renal cell carcinoma treated with sunitinib.
[PMID 26070784] Genetic risk variants associated with in situ breast cancer
[PMID 26911390] TNRC9 rs12443621 and FGFR2 rs2981582 polymorphisms and breast cancer risk.
[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.
