Protein-truncating and rare missense variants in <i>ATM</i> and <i>CHEK2</i> and associations with cancer in UK Biobank whole-exome sequence data

Abstract

PTVs in <i>ATM</i> and <i>CHEK2</i> are associated with a wide range of cancers, with the highest RR for pancreatic cancer in <i>ATM</i> PTV carriers. These findings can inform genetic counselling of carriers.