rs17542768

This is a intron variant variant in the FGFR2 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

breast cancer

Jia G et al. “Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.” Nature Genetics 56(5):819-826 (2024)
Allele A
OR 1.24
p 2.0e-8
N 40,138
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified
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Research that mentions this SNP (1)

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Genetic variants of fibroblast growth factor receptor 2 (FGFR2) are associated with breast cancer risk in Chinese women of the Han nationality
AssociationN=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.

Traits studied:Breast cancer
PubMedDOIMetascience Observatory

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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