rs2981578
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | normal | |
| (A;G) | 1.20x increased breast cancer risk | |
| (G;G) | 1.64x increased breast cancer risk |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 121580797 |
| Gene | FGFR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2981578 |
| dbSNP (classic) | rs2981578 |
| ClinGen | rs2981578 |
| ebi | rs2981578 |
| HLI | rs2981578 |
| Exac | rs2981578 |
| Gnomad | rs2981578 |
| Varsome | rs2981578 |
| LitVar | rs2981578 |
| Map | rs2981578 |
| PheGenI | rs2981578 |
| Biobank | rs2981578 |
| 1000 genomes | rs2981578 |
| hgdp | rs2981578 |
| ensembl | rs2981578 |
| geneview | rs2981578 |
| scholar | rs2981578 |
| rs2981578 | |
| pharmgkb | rs2981578 |
| gwascentral | rs2981578 |
| openSNP | rs2981578 |
| 23andMe | rs2981578 |
| SNPshot | rs2981578 |
| SNPdbe | rs2981578 |
| MSV3d | rs2981578 |
| GWAS Ctlg | rs2981578 |
| GMAF | 0.3779 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2981578 is a SNP within intron 2 of the FGFR2 gene, as part of a haplotype associated with increased risk for sporadic postmenopausal ER+ breast cancer in Caucasian patients. The risk shown for this SNP is actually the risk calculated for the tightly associated SNP rs1219648.[PMID 17529973
]
The distinguishing feature of rs2981578 is experimental evidence indicating that it is one of two SNPs in this intron that appear to have a (the?) functional role associated with the transcriptional regulation of the FGFR2 gene. The minor alleles of both SNPs, rs2981578 and rs7895676, lead to increased transcription and increased breast cancer risk.10.1371/journal.pbio.0060108
[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 21822685] Genetic variants of fibroblast growth factor receptor 2 (FGFR2) are associated with breast cancer risk in Chinese women of the Han nationality
[PMID 22287734] Evaluation of Breast Cancer Susceptibility Loci on 2q35, 3p24, 17q23 and FGFR2 Genes in Taiwanese Women with Breast Cancer
[PMID 22357627] Evaluation of 19 Susceptibility Loci of Breast Cancer in Women of African Ancestry
[PMID 18285324] Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk.
[PMID 18462018] Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer.
[PMID 19223389] FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.
[PMID 19434427] Analytical methods for inferring functional effects of single base pair substitutions in human cancers.
[PMID 19497954] Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer.
[PMID 24265722] Functional Analysis of a Breast Cancer-Associated FGFR2 Single Nucleotide Polymorphism Using Zinc Finger Mediated Genome Editing
[PMID 23124475] Three novel functional polymorphisms in the promoter of FGFR2 gene and breast cancer risk: a HuGE review and meta-analysis.
| GWAS snp | |
|---|---|
| PMID | [PMID 24143190]
|
| Trait | Breast cancer |
| Title | Genome-wide association study of breast cancer in the Japanese population. |
| Risk Allele | C |
| P-val | 1E-12 |
| Odds Ratio | 1.23 [1.158-1.296] |
[PMID 27236187] FGFR2 risk SNPs confer breast cancer risk by augmenting estrogen responsiveness.
[PMID 27705907] The precision relationships between eight GWAS-identified genetic variants and breast cancer in a Chinese population.
