{{Rsnum
|rsid=2981582
|Gene=FGFR2
|Chromosome=10
|position=123352317
|Orientation=minus
|GMAF=0.405
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|Summary=T allele increases risk of breast cancer
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}
{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 33.6 | 41.6 | 24.8
| HCB | 46.0 | 40.9 | 13.1
| JPT | 54.9 | 38.1 | 7.1
| YRI | 25.2 | 51.0 | 23.8
| ASW | 21.1 | 63.2 | 15.8
| CHB | 46.0 | 40.9 | 13.1
| CHD | 48.6 | 44.0 | 7.3
| GIH | 35.6 | 50.5 | 13.9
| LWK | 24.5 | 58.2 | 17.3
| MEX | 31.0 | 46.6 | 22.4
| MKK | 21.8 | 51.9 | 26.3
| TSI | 36.3 | 43.1 | 20.6
| HapMapRevision=28
}}{{CPMC SNP
|link=https://cpmc.coriell.org/v/Report/BreastCancer
}}
[[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|OA=1
}}

{{PMID|18437204|OA=1
}} 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|OA=1
}} 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|OA=1
}} 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. 

{{ neighbor
| rsid = 2420946
| distance = 993
}}

{{GWAS Summary
|SNP=rs2981582
|PubMedID=17529967
|Condition=Breast cancer
|Gene=FGFR2
|Risk Allele=G
|pValue=2.00E-076
|OR=1.26
|95CI=1.23-1.30
|OA=1
}}

{{PMID Auto
|PMID=19536173
|Title=Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia
|OA=1
}}

{{omim
|desc=BREAST CANCER
|id=114480
|rsnum=2981582
}}

{{omim
|desc=FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
|id=176943
|rsnum=2981582
}}

{{PharmGKB
|RSID=rs2981582
|Name_s=
|Gene_s=FGFR2
|Feature=
|Evidence=PubMed ID:19536173
|Annotation=The T allele of this variant was significantly associated with breast cancer risk in a study of the Russian population of 766 case and 665 control women from Siberia, Russian Federation. OR=1.46 (1.30-1.62), P=2 x 10(-6). This variant is in strong LD (r(2)=0.95) with rs3135718 in their sample.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA164918234
}}

{{PMID Auto
|PMID=20664043
|Title=Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci
}}
{{PMID Auto
|PMID=20054709
|Title=Birth weight, breast cancer susceptibility loci, and breast cancer risk
}}
{{PMID Auto
|PMID=20699374
|Title=Evaluation of Breast Cancer Susceptibility Loci in Chinese Women
|OA=1
}}

{{PharmGKB
|RSID=rs2981582
|Name_s=
|Gene_s=FGFR2
|Feature=
|Evidence=PubMed ID:18355772
|Annotation=The minor allele of this SNP has been associated with increased risk of breast cancer in BRCA2 mutation carriers.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA161615666
}}

{{PharmGKB
|RSID=rs2981582
|Name_s=
|Gene_s=FGFR2
|Feature=
|Evidence=PubMed ID:17529967; PubMed ID:18437204
|Annotation=This variant is significantly associated with risk for breast cancer.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA161925626
}}

{{PharmGKB
|RSID=rs2981582
|Name_s=
|Gene_s=FGFR2
|Feature=
|Evidence=PubMed ID:17529967; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Genome-wide association study identifies novel breast cancer susceptibility loci (Initial Sample Size: 390 cases, 364 controls; Replication Sample Size: 26,646 cases, 24,889 controls; Risk Allele: rs2981582-G).
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356622
}}

{{PMID Auto
|PMID=21415360
|Title=Common genetic variants associated with breast cancer in Korean women and differential susceptibility according to intrinsic subtype
}}

{{PMID Auto
|PMID=21445572
|Title=Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies
}}

{{PMID Auto
|PMID=21475998
|Title=Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States
|OA=1
}}

{{PMID Auto
|PMID=21748294
|Title=Correlation of breast cancer susceptibility loci with patient characteristics, metastasis-free survival, and mRNA expression of the nearest genes
}}

{{PMID Auto
|PMID=21767389
|Title=Allele-Specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10
|OA=1
}}

{{PMID Auto
|PMID=21791674
|Title=Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
|OA=1
}}

{{PMID Auto
|PMID=21822685
|Title=Genetic variants of fibroblast growth factor receptor 2 (FGFR2) are associated with breast cancer risk in Chinese women of the Han nationality
}}

{{PMID Auto
|PMID=22053997
|Title=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
|OA=1
}}

{{PMID|17997823|OA=1
}} Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases.

{{PMID|18224312|OA=1
}} Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.

{{PMID|18285324|OA=1
}} Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk.

{{PMID|18326623|OA=1
}} Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.

{{PMID|18462018|OA=1
}} Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer.

{{PMID|18478591|OA=1
}} Studies of genes in the FGF signaling pathway and oral clefts with or without dental anomalies.

{{PMID|18535005|OA=1
}} The search for genes contributing to endometriosis risk.

{{PMID|18612136|OA=1
}} Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.

{{PMID|18681954|OA=1
}} Breast cancer susceptibility loci and mammographic density.

{{PMID|18708391|OA=1
}} Breast cancer risk polymorphisms and interaction with ionizing radiation among U.S. radiologic technologists.

{{PMID|18772892|OA=1
}} Can genes for mammographic density inform cancer aetiology?

{{PMID|18785201|OA=1
}} Novel breast cancer risk alleles and endometrial cancer risk.

{{PMID|19088016|OA=1
}} Genetic susceptibility loci for breast cancer by estrogen receptor status.

{{PMID|19094228|OA=1
}} The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.

{{PMID|19219042|OA=1
}} Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.

{{PMID|19223389|OA=1
}} FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.

{{PMID|19232126|OA=1
}} Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort.

{{PMID|19304784|OA=1
}} Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study.

{{PMID|19454617|OA=1
}} Genetic variation in the chromosome 17q23 amplicon and breast cancer risk.

{{PMID|19497954|OA=1
}} Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer.

{{PMID|19567422|OA=1
}} Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

{{PMID|19639606|OA=1
}} Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases.

{{PMID|19738052|OA=1
}} A risk variant in an miR-125b binding site in BMPR1B is associated with breast cancer pathogenesis.

{{PMID|19931039|OA=1
}} Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty.

{{PMID|20085711|OA=1
}} Leveraging genetic variability across populations for the identification of causal variants.

{{PMID|20126254|OA=1
}} Rare variants create synthetic genome-wide associations.

{{PMID|20146796|OA=1
}} Familial relative risks for breast cancer by pathological subtype: a population-based cohort study.

{{PMID|20193855|OA=1
}} rs2981582 is associated with FGFR2 expression in normal breast.

{{PMID|20237344|OA=1
}} Performance of common genetic variants in breast-cancer risk models.

{{PMID|20299982|OA=1
}} 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|OA=1
}} 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|OA=1
}} Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.

{{PMID|22045194|OA=1
}} Combined effect of low-penetrant SNPs on breast cancer risk.

{{PMID|22532573|OA=1
}} The role of genetic breast cancer susceptibility variants as prognostic factors.

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2981582
|overall_frequency_n=71
|overall_frequency_d=128
|overall_frequency=0.554688
|n_genomes=42
|n_genomes_annotated=0
|n_haplomes=60
|n_articles=2
|n_articles_annotated=2
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=22269215
|Title=Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women
|OA=1
}}

{{PMID Auto
|PMID=23225170
|Title=Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population
}}

{{PMID Auto
|PMID= 23468243
|Title=Association of low-penetrance alleles with male breast cancer risk and clinicopathological characteristics: results from a multicenter study in Italy.
}}

{{PMID Auto
|PMID=23912956
|Title=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 Auto
|PMID=24054997
|Title=Association between rs2981582 polymorphism in the FGFR2 gene and the risk of breast cancer in Mexican women.
}}

{{PMID Auto
|PMID=24054997
|Title=Association between rs2981582 polymorphism in the FGFR2 gene and the risk of breast cancer in Mexican women.
}}

{{PMID Auto
|PMID=24125968
|Title=An investigation of the effects of FGFR2 and B7-H4 polymorphisms in breast cancer
}}

{{PMID Auto
|PMID=24171766
|Title=Common low-penetrance risk variants associated with breast cancer in Polish women
}}

{{PMID Auto
|PMID=24454457
|Title=Case-control study on the fibroblast growth factor receptor 2 gene polymorphisms associated with breast cancer in chinese han women
|OA=1
}}

{{PMID Auto
|PMID=22910930
|Title=Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians.
|OA=1
}}

{{PMID Auto
|PMID=22926736
|Title=Low penetrance alleles as risk modifiers in familial and sporadic breast cancer.
}}

{{PMID Auto
|PMID=22965832
|Title=Association of common genetic variants with breast cancer risk and clinicopathological characteristics in a Chinese population.
}}

{{PMID Auto
|PMID=23143756
|Title=Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status.
}}

{{PMID Auto
|PMID=23184080
|Title=Assessing interactions between the associations of fibroblast growth factor receptor 2 common genetic variants and hormone receptor status with breast cancer risk.
}}

{{PMID Auto
|PMID=23462807
|Title=Single-nucleotide polymorphisms associated with outcome in metastatic renal cell carcinoma treated with sunitinib.
|OA=1
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}