Table 1 Candidate variants in the discovery cohort.
From: Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
Gene | Variant description | Patient | Relevance |
|---|---|---|---|
CHAD | NM_001267:c.1049C > T:p.(T350I) | PC-005;PC-015 | PI3K-Akt pathway; present in individual with diagnosis before 40y; gene described in early-onset literature16 |
CHD1L | NM_004284:c.2398delT:p.(L800X) | PC-012 | Loss-of-function variant; gene described in early-onset literature17 |
ERCC6 | NM_000124:c.3437_3438insAAG:p.(S1146delinsRS) | PC-013 | Nucleotide Excision Repair (NER); loss-of-function variant; gene described in early-onset literature18 |
ITGB7 | NM_000889:c.1063_1066del:p.(V355fs) | PC-008 | PI3K-Akt pathway; loss-of-function variant; gene described in early-onset literature16,19 |
PTPN13 | NM_080685:c.4258 + 2 T > C | PC-008 | Apoptosis; other gene family members have been described as potential candidates for CRC susceptibility16 |
SPATA20 | NM_022827:c.151C > T:p.(R51X) | PC-015 | Present in individual with diagnosis before 40y; loss-of-function variant; gene described in early-onset literature16,19 |
TDG | NM_003211:c.67C > T:p.(Q23X) | PC-018 | Base Excision Repair (BER); loss-of-function variant; gene described in early-onset literature17 |
TGS1 | NM_024831:c.439_444del:p.(147_148del) | PC-017 | Peroxisome Proliferator-activated Receptors (PPAR) pathway; gene described in early-onset literature17 |
