rs11200014
This variant is located in the FGFR2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
lung carcinoma, estrogen-receptor negative breast cancer, ovarian endometrioid carcinoma, colorectal cancer, prostate carcinoma, ovarian serous carcinoma, breast carcinoma, ovarian carcinoma, lung adenocarcinoma, squamous cell lung carcinoma
▶Research that mentions this SNP (4)
▶Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutationAssociationN=1,467Erica S. Rinella et al.(2013)· Human Genetics
Genome-wide association study of Ashkenazi Jewish women with familial breast cancer but no BRCA1/2 mutations identified 7 novel SNPs and confirmed 6 known variants. A 7-marker risk model including rs17663555, rs566164, rs11075884, FGFR2 haplotype (rs11200014, rs2981579, rs1078806, rs1219648, rs2420946, rs2981582), rs13387042, rs2046210 (ESR1), and rs3112612 (TOX3) achieved moderate discriminatory accuracy (AUC=0.74; 95% CI: 0.69-0.79) for predicting familial breast cancer risk in this population.
▶Genetic variants of fibroblast growth factor receptor 2 (FGFR2) are associated with breast cancer risk in Chinese women of the Han nationalityAssociationN=816Fan Chen et al.(2012)· Immunogenetics
Case-control study of 816 Chinese Han women (388 breast cancer patients, 428 controls) examining seven FGFR2 SNPs found that rs2981578 A allele and AA genotype were protective (OR=0.761, p=0.007; AA genotype OR=0.496, p=0.0035), while rs3750817 CT genotype was a risk factor (OR=1.52, p=0.003) for breast cancer in this population.
▶FGFR2 intronic SNPs and breast cancer risk: Associations with tumor characteristics and interactions with exogenous exposures and other known breast cancer risk factorsAssociationN=3,285Catalin Marian et al.(2011)· International Journal of Cancer
Population-based case-control study of 1170 breast cancer cases and 2115 controls examining associations between four FGFR2 intronic SNPs and breast cancer risk. All four SNPs (rs11200014, rs2981579, rs1219648, rs2420946) showed significant associations with breast cancer (per-allele ORs: 1.22-1.29). Key finding: significant gene-environment interaction with smoking status, with former/current smokers carrying two copies of rs1219648 minor allele at highest risk (crude OR 2.11, 95% CI: 1.52-2.92) compared to never smokers without variant alleles.
▶FGFR2 intronic polymorphisms interact with reproductive risk factors of breast cancer: Results of a case control study in JapanAssociationN=1,368Takakazu Kawase et al.(2009)· International Journal of Cancer
Case-control study in Japan (456 cases, 912 controls) demonstrating that FGFR2 intronic SNPs (rs2981579, rs1219648, rs2420946, rs2981582) are associated with breast cancer risk (OR=1.29-1.53 for rs2420946), with rs2420946 showing a population-attributable risk of 17.7%. The SNPs interact with reproductive risk factors including age at menarche (interaction p=0.019) and parity (interaction p=0.026), suggesting effects on reproductive hormone-related pathways.
About FGFR2
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
View all FGFR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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