rs10995190

This is a intron variant variant.

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GWAS Catalog Trait Associations (4)

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

breast carcinoma

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 G
OR 1.16
p 2.0e-37
N 33,832
Large GWAS
European
Michailidou K et al. “Large-scale genotyping identifies 41 new loci associated with breast cancer risk.” Nature Genetics 45(4):353-61, 361e1-2 (2013)
Allele G
OR 1.16
p 1.0e-36
N 22,627
Large GWAS
European
Turnbull C et al. “Genome-wide association study identifies five new breast cancer susceptibility loci.” Nature Genetics 42(6):504-7 (2010)
Allele G
OR 1.16
p 5.0e-15
N 8,556
Large GWAS
European

mammographic density measurement

Lindström S et al. “Common variants in ZNF365 are associated with both mammographic density and breast cancer risk.” Nature Genetics 43(3):185-7 (2011)
Allele A
OR 0.18
p 1.0e-9
N 4,877
Large GWAS
European
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Research that mentions this SNP (3)

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Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status
AssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Traits studied:Breast cancerBreast cancer riskER+/PR+ breast cancerER/PR negative breast cancerTriple negative breast cancer
PubMedDOIMetascience Observatory
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11q13 is a susceptibility locus for hormone receptor positive breast cancer
AssociationN=98,380Lambrechts et al.(2012)· Human Mutation

Large pooled case-control study of 49,608 breast cancer cases and 48,772 controls from 39 studies in the Breast Cancer Association Consortium independently confirmed four SNPs as breast cancer susceptibility loci. SNP rs614367 (CCND1 region) showed the strongest association (OR 1.21, P < 1×10⁻⁸) overall and OR 1.29 for hormone receptor-positive breast cancer. SNPs rs1011970 (CDKN2A/2B, OR 1.09), rs10995190 (ZNF365, OR 0.92), and rs704010 (ZMIZ1) were also significantly associated with breast cancer risk in women of European descent, while rs2380205 (10p15) showed limited evidence.

Traits studied:Breast cancerDuctal breast cancerER-negative breast cancerER-positive breast cancerHormone receptor-positive breast cancerLobular breast cancerPR-negative breast cancerPR-positive breast cancer
PubMedDOIMetascience Observatory
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Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility
AssociationN=3,064Badan Sehrawat et al.(2011)· Human Genetics

A two-stage genome-wide association study (GWAS) identified six novel breast cancer susceptibility loci in a Canadian cohort (3,064 total participants). In Stage I, 348 cases and 348 controls were genotyped on Affymetrix SNP 6.0 arrays (906,600 SNPs), with 35 candidate variants selected for replication in Stage II (1,153 cases and 1,215 controls). Six SNPs showed significant association with breast cancer: rs1092913 in ROPN1L (OR 1.45, p=1.89×10⁻⁶), three ZNF577 SNPs (rs10411161, rs3848562, rs11878583; ORs 1.35-1.42), rs1429142 near EDNRA (OR 1.27), and rs1981867 near C16orf61 (OR 1.22). While not significant after genome-wide correction, these represent potential novel candidate loci warranting further validation.

Traits studied:Breast cancer
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.

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