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rs2981578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) normal
(A;G) 1.20x increased breast cancer risk
(G;G) 1.64x increased breast cancer risk
ReferenceGRCh38 38.1/142
Chromosome10
Position121580797
GeneFGFR2
is asnp
is mentioned by
dbSNPrs2981578
ebirs2981578
HLIrs2981578
Exacrs2981578
Varsomers2981578
Maprs2981578
PheGenIrs2981578
hapmaprs2981578
1000 genomesrs2981578
hgdprs2981578
ensemblrs2981578
gopubmedrs2981578
geneviewrs2981578
scholarrs2981578
googlers2981578
pharmgkbrs2981578
gwascentralrs2981578
openSNPrs2981578
23andMers2981578
23andMe allrs2981578
SNP Nexus

SNPshotrs2981578
SNPdbers2981578
MSV3drs2981578
GWAS Ctlgrs2981578
GMAF0.3779
Max Magnitude
? (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 17529973OA-icon.png]

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

OMIM176943
DescFIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
Variant
Relatedalso
[PMID 21767389OA-icon.png] 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 22357627OA-icon.png] Evaluation of 19 Susceptibility Loci of Breast Cancer in Women of African Ancestry

[PMID 18285324OA-icon.png] Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk.

[PMID 18462018OA-icon.png] Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer.

[PMID 19223389OA-icon.png] FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.

[PMID 19434427OA-icon.png] Analytical methods for inferring functional effects of single base pair substitutions in human cancers.

[PMID 19497954OA-icon.png] Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer.


[PMID 24265722OA-icon.png] 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 24143190OA-icon.png]
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.