Journal article

Discovery of common and rare genetic risk variants for colorectal cancer

Jeroen R Huyghe, Stephanie A Bien, Tabitha A Harrison, Hyun Min Kang, Sai Chen, Stephanie L Schmit, David V Conti, Conghui Qu, Jihyoun Jeon, Christopher K Edlund, Peyton Greenside, Michael Wainberg, Fredrick R Schumacher, Joshua D Smith, David M Levine, Sarah C Nelson, Nasa A Sinnott-Armstrong, Demetrius Albanes, M Henar Alonso, Kristin Anderson Show all



To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P < 5 × 10-8, bringing the number of known independent signals for CRC to ~100. New signals implicate lower-frequency ..

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