Table 4.
Table of identified variants classified as likely pathogenic/pathogenic according to the ClinVar database
Patient | Gene | Nucleotide | Protein | ClinVar classification | Sex/age primary | Personal history (age at diagnosis) | Family history |
---|---|---|---|---|---|---|---|
With SMN | |||||||
OL0138 | CHEK2 | c.349A>G | p.Arg117Gly | Class 4–5 | Female/70 | Breast (71) | 0 |
Without SMN | |||||||
OL0130 | RAD51D | c.345+2T>G | – | Class 4 | Male/62 | 0 | Mother – gastric |
OL0132 | MLH1 | c.390C>G | p.Tyr130Ter | Class 5 | Female/52 | 0 | Father – colon, father’s mother – brain |
ATM | c.3849delA | p.Leu1283fs | Class 5 | ||||
PCI77 | CHEK2 | c.1100delC | p.Thr367fs | Class 5 | Male/55 | 0 | 0 |
Note: All variants are heterozygous.
Abbreviation: SMN, subsequent malignant neoplasm after pancreatic ductal adenocarcinoma (PDAC).