Figure 2.

Enrichment of DRG Mutations in Various Cohorts

(A) Inherited pathogenic germline mutations in ATM were more commonly seen in individuals with CRC in the discovery (n = 680), validation (n = 1,661), and early-onset-CRC (1,456) sets than in cancer-free individuals.

(B) Germline pathogenic mutations in PALB2 were significantly enriched in unselected CRC individuals from the discovery and validation sets. However, no significant enrichment was seen in the individuals with early-onset CRC.

(C) A secondary analysis of the HR pathway showed significant enrichment of germline HR gene mutations, as an aggregate, in all CRC cohorts.

(D) Individuals with CRC were also almost twice as likely to carry a clinically actionable mutation for which screening recommendations exist, which can greatly affect the clinical care offered to these individuals and their families.