Rs2981578

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.

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.

Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk.

Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer.

FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.

Analytical methods for inferring functional effects of single base pair substitutions in human cancers.

Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer.