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 19648919]
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 21169536]
[PMID 21642636] Ovarian cancer-associated polymorphisms in the BNC2 gene among women with endometriosis.
[PMID 22235027] Evaluation of microRNA expression profiles and their associations with risk alleles in lymphoblastoid cell lines of familial ovarian cancer.
|qualified_impact||Insufficiently evaluated pathogenic|