{{Rsnum
|rsid=1219648
|Gene=FGFR2
|Chromosome=10
|position=123346190
|Orientation=plus
|GMAF=0.4008
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 32.7 | 41.6 | 25.7
| HCB | 38.0 | 45.3 | 16.8
| JPT | 43.8 | 44.6 | 11.6
| YRI | 32.9 | 47.3 | 19.9
| ASW | 30.4 | 51.8 | 17.9
| CHB | 38.0 | 45.3 | 16.8
| CHD | 40.7 | 50.0 | 9.3
| GIH | 30.7 | 55.4 | 13.9
| LWK | 41.8 | 51.8 | 6.4
| MEX | 32.8 | 44.8 | 22.4
| MKK | 39.1 | 42.3 | 18.6
| TSI | 36.3 | 43.1 | 20.6
| HapMapRevision=28
}} 

Based on a study of ~2500 female patients of European ancestry with sporadic postmenopausal [[breast cancer]], this SNP in the [[FGFR2]] showed the greatest risk. The risk allele is [[rs1219648]](G), with a pooled odds ratio of 1.64 (CI:1.42-1.90) for [[rs1219648]](G;G) homozygotes, and an odds ratio of 1.20 (CI: 1.07-1.42) for [[rs1219648]](A;G) heterozygotes, compared with [[rs1219648]](A;A) homozygotes.{{PMID|17529973|OA=1
}}

[[rs1219648]] represents the SNP in the [[FGFR2]] gene with the strongest association with [[breast cancer]]. However, nearby SNPs are almost as predictive. In particular, the following SNP alleles all have linkage values of 0.96 or greater with the [[rs1219648]](G) allele in European populations:

*[[rs2981579]](A)
*[[rs2420946]](T)
*[[rs11200014]](A)

{{doi|10.1371/journal.pbio.0060108}} An experimental rationale is presented indicating that this SNP is part of a haplotype that increases risk for ER+ [[breast cancer]] by increasing [[FGFR2]] transcription. 

{{PMID|18285324|OA=1
}} [[rs1219648]] is not associated with endometriosis risk.

{{PMID|18483326}} rs1219648 may account for a substantial fraction of breast cancer in Arab (12%), [[Ashkenazi]] (15%), and Sephardi Jewish (22%) populations. 

{{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 with [[rs1219648]].

{{PMID|19028704|OA=1
}} A study of 1,225 Caucasian [[breast cancer]] patients found a significant association between [[rs1219648]] but only in women with estrogen receptor positive (ER+), progesterone receptor positive (PR+) and HER2/Neu negative (HER2-) tumors. An interaction was also observed between combined hormone replacement therapy use and [[rs1219648]] genotypes on [[breast cancer]] risk in Caucasian women (p = 0.010).

{{GWAS Summary
|SNP=rs1219648
|PubMedID=17529973
|Condition=Breast cancer
|Gene=FGFR2
|Risk Allele=G
|pValue=1.00E-010
|OR=1.2
|95CI=1.07-1.42
|OA=1
}}

{{omim
|desc=BREAST CANCER
|id=114480
|rsnum=1219648
}}

{{omim
|desc=FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
|id=176943
|rsnum=1219648
}}

{{PharmGKB
|RSID=rs1219648
|Name_s=
|Gene_s=FGFR2
|Feature=
|Evidence=PubMed ID:17529973; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer (Initial Sample Size: 1,145 cases, 1,142 controls; Replication Sample Size: 1,176 cases, 2,072 controls; Risk Allele: rs1219648-G).
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356626
}}

{{PMID Auto
|PMID=19789366
|Title=Evaluation of 11 breast cancer susceptibility loci in African-American women
|OA=1
}}

{{PMID Auto
|PMID=20640597
|Title=Risk of aggressive breast cancer in women of Han nationality carrying TGFB1 rs1982073 C allele and FGFR2 rs1219648 G allele in North China
}}
{{PMID Auto
|PMID=20699374
|Title=Evaluation of Breast Cancer Susceptibility Loci in Chinese Women
|OA=1
}}
{{PMID Auto GWAS
|PMID=20872241
|Trait=None
|Title=A combined analysis of genome-wide association studies in breast cancer
|RiskAllele=G
|Pval=2E-13
|OR=1.32
|ORtxt=[1.22-1.42]
}}

{{PMID Auto GWAS
|PMID=21263130
|Trait=None
|Title=Novel Breast Cancer Susceptibility Locus at 9q31.2: Results of a Genome-Wide Association Study
|RiskAllele=
|Pval=1E-30
|OR=1.3100
|ORtxt=[1.25-1.37]
}}

{{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=22087758
|Title=Single nucleotide polymorphisms associated with risk for contralateral breast cancer in the Women's Environment, Cancer and Radiation Epidemiology (WECARE) study
|OA=1
}}

{{PMID Auto
|PMID=22303333
|Title=Replication of GWAS "Hits" by Race for Breast and Prostate Cancers in European Americans and African Americans
|OA=1
}}

{{PMID Auto
|PMID=21838531
|Title=Crosstalk between the FGFR2 and TP53 genes in breast cancer: data from an association study and epistatic interaction analysis
}}

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

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

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

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

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

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

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

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

{{PMID Auto
|PMID=19500394
|Title=Genetic variants in FGFR2 and FGFR4 genes and skin cancer risk in the Nurses' Health Study.
|OA=1
}}

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

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

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

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

{{PMID Auto
|PMID=20300826
|Title=Current evidence on the relationship between three polymorphisms in the FGFR2 gene and breast cancer risk: a meta-analysis.
}}

{{PMID Auto
|PMID=20364400
|Title=Quantitative assessment of the effect of FGFR2 gene polymorphism on the risk of breast cancer.
}}

{{PMID Auto
|PMID=20484103
|Title=Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women.
|OA=1
}}

{{PMID Auto
|PMID=20554749
|Title=FGFR2 and other loci identified in genome-wide association studies are associated with breast cancer in African-American and younger women.
|OA=1
}}

{{PMID Auto
|PMID=20853316
|Title=FGFR2 intronic SNPs and breast cancer risk: associations with tumor characteristics and interactions with exogenous exposures and other known breast cancer risk factors.
|OA=1
}}

{{PMID Auto
|PMID=22144180
|Title=FGFR2 genotype and risk of radiation-associated breast cancer in Hodgkin lymphoma.
}}

{{PMID Auto
|PMID=23073182
|Title=Breast cancer susceptibility associated with rs1219648 (fibroblast growth factor receptor 2) and postmenopausal hormone therapy use in a population-based United States study
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1219648
|overall_frequency_n=54
|overall_frequency_d=128
|overall_frequency=0.421875
|n_genomes=38
|n_genomes_annotated=0
|n_haplomes=49
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23435034
|Title=Breast cancer susceptibility associated with rs1219648 (fibroblast growth factor receptor 2) and postmenopausal hormone therapy use in a population-based United States study
|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=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=22965832
|Title=Association of common genetic variants with breast cancer risk and clinicopathological characteristics in a Chinese population.
}}

{{PMID Auto
|PMID=23169889
|Title=Tooth agenesis association with self-reported family history of cancer.
}}

{{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.
}}

{{on chip | 23andMe v1}}
{{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}}