Systematic evaluation of cancer-specific genetic risk score for 11 types of cancer in The Cancer Genome Atlas and Electronic Medical Records and Genomics cohorts.
作者： Zhuqing Shi , Hongjie Yu , Yishuo Wu , Xiaoling Lin , Quanwa Bao
DOI: 10.1002/CAM4.2143
关键词:
摘要: BACKGROUND Genetic risk score (GRS) is an odds ratio (OR)-weighted and population-standardized method for measuring cumulative effect of multiple risk-associated single nucleotide polymorphisms (SNPs). We hypothesize that GRS a valid tool assessment most common cancers. METHODS Utilizing genotype phenotype data from The Cancer Genome Atlas (TCGA) Electronic Medical Records Genomics (eMERGE), we tested 11 cancer-specific GRSs (bladder, breast, colorectal, glioma, lung, melanoma, ovarian, pancreatic, prostate, renal, thyroid cancer) association with the respective cancer type. Cancer-specific were calculated, first time in these cohorts, based on previously published SNPs using Caucasian subjects two cohorts. RESULTS Mean population controls eMERGE approximated expected value 1.00 (between 0.98 1.02) all types cancer. was consistently higher patients than (P 1.5, respectively), significant dose-response associations OR type found nine (P-trend < 0.05). More 64% can be classified as high at least one CONCLUSION Validity predicting demonstrated If confirmed larger studies, may have potential developing personalized screening strategy.
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