rs75915166

▶

GWAS Catalog Trait Associations (1)

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

breast carcinoma

Shu X et al. “Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants.” Nature Communications 11(1):1217 (2020)
Allele A
OR 1.30
p 1.0e-96
N 277,932
Large GWAS
multi-ancestry
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele A
OR 1.28
p 4.0e-95
N 139,274
Large GWAS
multi-ancestry
Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)
Allele A
OR 1.31
p 1.0e-57
N 33,832
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
A comprehensive analysis of polymorphic variants in steroid hormone and insulin‐like growth factor‐1 metabolism and risk of in situ breast cancer: Results from the Breast and Prostate Cancer Cohort Consortium
AssociationN=17,188Myrto Barrdahl et al.(2018)· International Journal of Cancer

A two-phase association study of 1,414 SNPs in steroid hormone and IGF-1 metabolism genes investigated breast cancer in situ (BCIS) risk in 1,062 cases and 10,126 controls from the Breast and Prostate Cancer Cohort Consortium. INSR-rs10500204 showed significant association with increased BCIS risk (OR=1.96 for homozygous major allele, p=1.68×10⁻⁵), being more strongly associated with BCIS than invasive disease. Two other SNPs (ACVR2A-rs2382112 and MAST2-rs12124649) showed nominally significant but less robust associations.

Traits studied:Breast cancer in situBreast cancer susceptibilityDuctal carcinoma in situ
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…