rs2981579
This is a intron variant variant 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.
breast carcinoma
▶ClinVar annotation
▶Research that mentions this SNP (6)
▶Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor statusAssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis
A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).
▶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.
▶Evaluation of SNPs inmiR-146a,miR196a2andmiR-499as low-penetrance alleles in German and Italian familial breast cancer casesAssociationN=1,800Irene Catucci et al.(2010)· Human Mutation
This PhD thesis presents a comprehensive study of microRNA (miRNA) SNPs and their association with breast cancer risk in Australian Caucasian populations. The study identified three key findings: rs2910164 in MIR146A showed significant association (p=0.03 and p=0.00013 in two populations); rs353291 in MIR145 showed significant differences in allele frequencies (p=0.041 and p=0.023); and rs4284505/rs7336610 in the MIR17HG cluster showed significant association with protective effect (OR=0.75, 95% CI: 0.60-0.94, p=0.012).
▶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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