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. 2018 Feb 22;102(3):401–414. doi: 10.1016/j.ajhg.2018.01.018

Figure 1.

Figure 1

Germline Pathogenic Mutations in the Known CRC-Predisposition Genes and Additional DRGs

(A) Proportions of individuals with germline pathogenic mutations in the CRC-risk genes in 680 CRC individuals in the discovery set and 1,661 CRC individuals in the validation set.

(B) Number and class of the detected germline pathogenic mutations in the DRGs in the discovery set (n = 680). DRGs where no mutations were detected (n = 19) are not shown here.

(C) Enrichment of germline pathogenic DRG mutations in 680 CRC individuals in the discovery set. Fisher’s exact test was used to calculate the ORs and 95% CIs. A two-sided binomial test was used to calculate the p values.

(D) A total of 18 germline pathogenic ATM mutations were seen in the discovery and validation sets in our study. This included seven (38.9%) nonsense mutations, six (33.3%) frameshift mutations, three (16.6%) splice-site mutations, one (5.6%) known pathogenic in-frame deletion, and one (5.6%) known pathogenic missense mutation.