|(A;G)||1.20x increased breast cancer risk|
|(G;G)||1.64x increased breast cancer risk|
|?||(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.
|Title||Genome-wide association study of breast cancer in the Japanese population.|
|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.