SUMMER

SUMMER evaluates causal effects of genetic variants and circulating biomarkers on pan-cancer survival outcomes using Mendelian randomization.

Key Features:

• Genome-Wide Evaluation: Systematically evaluates genetic loci associated with overall survival (OS) and cancer-specific survival (CSS) using UK Biobank data from 19,628 incident patients across 17 cancer types.
• Mendelian Randomization Framework: Employs a Mendelian randomization analytic framework to assess causal relationships between genetic variants and cancer prognosis by integrating GWAS, phenome-wide association study (PheWAS) data, and blood genome-wide eQTL/meQTL datasets.
• Multi-Omics Integration: Integrates traits, genes, and CpG sites for survival analysis, analyzing on average more than 10 traits, 700 genes, and 4,500 CpG sites for their impact on survival outcomes.

Scientific Applications:

• Cancer Research: Investigating genetic mechanisms underlying cancer survival and identifying potential therapeutic targets and biomarkers.
• Genetic Epidemiology: Elucidating how genetic variants influence cancer prognosis and contributing to the study of gene-environment interactions.
• Personalized Medicine: Informing personalized treatment strategies and risk assessment models by highlighting genetic factors associated with survival outcomes.

Methodology:

Systematic genome-wide evaluation of loci associated with OS and CSS in the UK Biobank cohort (19,628 incident patients across 17 cancer types) using a Mendelian randomization analytic framework that integrates GWAS, PheWAS, and blood genome-wide eQTL/meQTL datasets.