Abstract 1570: Genome-wide association study identifies variants at 3p26.1 linked to survival in ovarian cancer patients among Chinese women

Survival rates for ovarian cancer varies considerably among patients, and some of this variation could be explained by germline genetic variation. In order to identify genetic markers associated with ovarian cancer-specific survival, we performed a genome-wide association study (GWAS) of ovarian cancer survival among Chinese women. In a meta-analysis of 2,130 ovarian cancer patients from the southeast and north part of China, we found a significant association between SNPs at the 3p26.1 and overall survival (lead SNP rs3804994; combined P=9.8×10-9). Patients with the minor allele are at increased risk for mortality (HR: 1.55; 95% CI: 1.33-1.80) relative to patients with the major allele. Statistical fine-mapping and functional prioritization recommend a potential casual SNP rs9311399 that locates in the active chromatin region of ovarian tissue. Using EMSA, luciferase assay and ATAC-seq, we demonstrated that risk allele of rs9311399 could alter the regulatory activity of DNA sequence. Our findings suggest that genetic variants at the 3p26.1 may be promising prognostic biomarkers for ovarian cancer patients. Citation Format: Hongji Dai, Xinlei Chu, Wei Wang, Huijun Yang, Qiong Wang, Mulin Jun Li, Qingyi Wei, Kexin Chen. Genome-wide association study identifies variants at 3p26.1 linked to survival in ovarian cancer patients among Chinese women [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 1570.