Table 2 Results of mutation detection by gene
Gene | Total variants | Origin status by manual curation | PV(LPV) (+VUS) across germline or uncertain origin | |
|---|---|---|---|---|
Somatic | Germline (+variants of uncertain origin) | |||
TP53 | 27 | 27 | 0 | 0 |
APC | 5 | 3 | 2 | 2 |
ATM | 4 | 3 | 1 | 1 |
MSH6 | 3 | 0 | 3 | 3 |
PMS2 | 3 | 0 | 3 | 3 |
BRCA1 | 2 | 0 | 2 | 2 |
BRCA2 | 2 | 1 | 1 | 0 (+1) |
CDKN2A | 2 | 1 | 1 | 0 |
BLM | 1 | 0 | 1 | 1 |
BMPR1A | 1 | 1 | 0 | 0 |
CDH1 | 1 | 0 | 0 (+1*) | 0 |
MLH1 | 1 | 0 | 1 | 1 |
MSH2 | 1 | 0 | 1 | 1 |
NBN | 1 | 1 | 0 | 0 |
SMAD4 | 1 | 1 | 0 | 0 |
SMARCB1 | 1 | 0 | 1* | 0 |
Total | 56 | 38 | 17 (+1) | 14 (+1) |