Figure 3.

Clinical and Molecular Characteristics of All Individuals with Germline Pathogenic Mutations in CRC-Risk Genes and DRGs in the CRC Discovery Set

All individuals with germline pathogenic mutations in ATM had somatic LOH in their tumor samples. Two of these individuals had large deletions that affected the wild-type ATM allele, whereas three had truncating point mutations leading to the loss of the ATM wild-type allele as well. Abbreviations are as follows: AC-TC, ascending colon to transverse colon; SF-SC, splenic flexure to sigmoid colon; MSI, microsatellite instability; MSS, microsatellite stable; CIMP, CpG island methylator phenotype-specific promoter; and LOH, loss of heterozygosity.