Table 3 List of variants identified in the WES data of the proband (blood and normal tissue) through the “Candidate gene approach”
Gene symbol | Gene name | Mutation type | III.2 Proband’s blood sample | III.2 Proband’s normal colon tissue | III.2 Proband’s CRC tissue | II.1 Father’s blood sample | II.2 Mother’s blood sample | II.3 Aunt’s blood sample | III.3 Cousin’s blood sample | Inheritance |
|---|---|---|---|---|---|---|---|---|---|---|
APC | Adenomatous polyposis coli | Synonymous | 1/1 | 1/1 | 1/1 | 0/1 | 0/1 | 1/1 | 1/1 | Both parents |
0/1 | 0/1 | 0/1 | 0/0 | a | 0/1 | 1/1 | NV | |||
0/1 | 0/1 | 0/1 | 0/0 | 1/1 | 1/1 | 1/1 | Mother | |||
AXIN2 | Axin 2 | Intronic | 1/1 | 1/1 | 1/1 | 1/1 | 0/1 | 1/1 | 1/1 | Both parents |
BCOR | BCL6 corepressor | Synonymous | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | Both parents |
CASP8 | Caspase 8, apoptosis-related cysteine peptidase | Missense | 0/1 | 0/1 | 0/1 | 1/1 | 0/0 | 0/1 | 1/1 | Father |
ELF3 | E74-like factor 3 (ets domain transcription factor, epithelial-specific) | Synonymous | 0/1 | 0/1 | 0/1 | 0/1 | a | 0/0 | 0/1 | Father |
EPHB2 | EPH receptor B2 | Intronic | 0/1 | 1/1 | 1/1 | 0/1 | 0/1 | 1/1 | 0/1 | Both parents |
Synonymous | 1/1 | 1/1 | 1/1 | 1/1 | a | a | 1/1 | NV | ||
ERBB2 | Erb-b2 receptor tyrosine kinase 2 | Missense | 1/1 | 1/1 | 1/1 | 1/1 | 0/0 | 0/1 | 0/1 | De novo |
GOT1 | Glutamic-oxaloacetic transaminase 1, soluble | Synonymous | 0/1 | 0/1 | 0/1 | 0/1 | 0/0 | 0/0 | 0/0 | Father |
KRAS | Kirsten rat sarcoma viral oncogene homolog | 3′-UTR | 1/1 | 1/1 | 1/1 | 1/1 | a | 1/1 | 1/1 | NV |
1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 0/1 | 0/1 | Both parents | |||
Synonymous | 1/1 | 1/1 | 1/1 | 1/1 | a | 1/1 | 1/1 | NV | ||
MLH1 | mutL homolog 1 | Missense | 1/1 | 1/1 | 1/1 | 0/1 | 0/0 | 0/0 | 0/1 | De novo |
MSH6 | mutS homolog 6 | Synonymous | 0/1 | 0/1 | 0/1 | 0/0 | 0/1 | 0/1 | 0/1 | Mother |
NR4A2 | Nuclear receptor subfamily 4, group A, member 2 | 3′-UTR | 1/1 | 1/1 | 1/1 | 1/1 | 0/1 | 1/1 | 1/1 | Both parents |
NTN4 | Netrin 4 | Missense | 0/1 | 0/1 | 0/1 | 1/1 | 0/0 | 0/1 | 0/1 | Father |
PMS2 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | Intronic | 1/1 | 1/1 | 1/1 | 0/1 | 1/1 | 0/0 | 0/1 | Both parents |
POLE | Polymerase (DNA directed), epsilon, catalytic subunit | Intronic | 0/1 | 0/1 | 0/1 | 0/1 | 0/0 | 0/0 | 0/0 | Father |
Synonymous | 0/1 | 0/1 | 0/1 | 1/1 | 0/1 | 0/1 | 0/1 | Both parents | ||
0/1 | 0/1 | 0/1 | 0/0 | a | a | 0/0 | NV | |||
0/1 | 0/1 | 0/0 | 1/1 | 0/0 | 0/0 | 0/0 | Father | |||
PTPRJ | Protein tyrosine phosphatase, receptor type, J | Intronic | 1/1 | 0/1 | 0/1 | 1/1 | 0/1 | a | 0/1 | Both parents |
Missense | 1/1 | 1/1 | 1/1 | 0/1 | 1/1 | 0/1 | 0/1 | Both parents | ||
SMAD4 | SMAD family member 4 | Intronic | 0/1 | 0/1 | 0/1 | 0/1 | 0/1 | 0/0 | 1/1 | Both parents |