Rs3814113

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Orientationplus
Geno Mag Summary
(C;C) 0.8x decreased risk for ovarian cancer
(C;T) 0.8x decreased risk for ovarian cancer
(T;T) normal
ReferenceGRCh38 38.1/141
Chromosome9
Position16915023
is asnp
is mentioned by
dbSNPrs3814113
PheGenIrs3814113
nextbiors3814113
hapmaprs3814113
1000 genomesrs3814113
hgdprs3814113
ensemblrs3814113
gopubmedrs3814113
geneviewrs3814113
scholarrs3814113
googlers3814113
pharmgkbrs3814113
gwascentralrs3814113
openSNPrs3814113
23andMers3814113
23andMe allrs3814113
SNP Nexus

SNPshotrs3814113
SNPdbers3814113
MSV3drs3814113
GMAF0.3953
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs3814113 is a SNP ~44kb upstream of the BNC2 gene on chromosome 9.

A very large study of multiple populations, ultimately totaling almost 10,000 ovarian cancer patients and an equal number of matched controls, concluded that the per allele odds ratio associated with the rs3814113(C) allele was 0.79 (CI: 0.75-0.84, p=2.5x10e-17). This association held in 5 types of (ethnic) populations studied, and was strongest in association with serous ovarian cancers.[PMID 19648919OA-icon.png]

An independent study of 10,000+ BRCA1 mutation carriers and almost 6,000 BRCA2 mutation carriers provided confirmation for the original report, finding the rs3813113(C) allele to be associated with a reduced risk of ovarian cancer among BRCA1 mutation carriers (per-allele hazard ratio 0.78, CI: 0.72 - 0.85, p = 4.8 × 10e-9) and BRCA2 mutation carriers (hazard ratio 0.78, CI: 0.67 - 0.90, p = 5.5 × 10e-4). rs3814113 was not associated with higher (or lower) breast cancer risk among either BRCA1 or BRCA2 mutation carriers. Overall, BRCA1 mutation carriers with a rs3814113(T;T) genotype were predicted to have an ovarian cancer risk to age 80 years of 48%, compared to a risk of 33% for rs3814113(C;C) genotypes.[PMID 21169536OA-icon.png]

[PMID 21642636] Ovarian cancer-associated polymorphisms in the BNC2 gene among women with endometriosis.

[PMID 22235027OA-icon.png] Evaluation of microRNA expression profiles and their associations with risk alleles in lymphoblastoid cell lines of familial ovarian cancer.


GET Evidence
rs3814113
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.460317
summary



GWAS snp
PMID [PMID 23535730OA-icon.png]
Trait Ovarian cancer
Title GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
Risk Allele
P-val 4E-32
Odds Ratio 1.28 [1.23-1.33]
GWAS snp
PMID [PMID 23544013OA-icon.png]
Trait Ovarian cancer in BRCA1 mutation carriers
Title Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Risk Allele A
P-val 6E-11
Odds Ratio 1.30 [1.2-1.41]


[PMID 23133607OA-icon.png] Associations between gene expression variations and ovarian cancer risk alleles identified from genome wide association studies.


[PMID 25173882] Replication Study for the Association of Seven Genome- Gwas-Identified Loci With Susceptibility to Ovarian Cancer in the Polish Population