Table 2.
Pathogenic variants belonging to the 152 known predisposition genes*
| Gene | Position | Transcript | Mutation | Amino acid change | Type | Patient case ID | Age | Sex | Family history | TNM stage |
|---|---|---|---|---|---|---|---|---|---|---|
| ATR | Chr3: 142,507,945 | NM_001184 | c.C5017G | p.L1673V | SNV | WGC094725 | 40 | F | Yes | IA1 |
| FANCD2 | Chr3: 10,043,835 | NM_001018115 | c.G1105C | p.E369Q | SNV | WGC094712 | 37 | F | No | IA2 |
| FANCE | Chr6: 35,457,943 | NM_021922 | c.C928T | p.P310S | SNV | WGC089849 | 31 | F | No | IA3 |
| GATA2 | Chr3: 128,486,092 | NM_001145662 | c.A506G | p.H169R | SNV | WGC094715 | 38 | F | No | 0 |
| HFE | Chr6: 26,091,008 | NM_000410 | c.C244T | p.Q82X | Stop-gain | WGC089936 | 39 | F | Yes | IA1 |
| MSH2 | Chr2: 47,478,510 | NM_000251 | c.G2449A | p.V817M | SNV | WGC089901 | 31 | F | No | IVB |
| PDGFRA | Chr4: 54,273,653 | NM_001347827 | c.A1481T | p.E494V | SNV | WGC089872 | 36 | M | No | IVB |
| PMS2 | Chr7: 5,989,934 | NM_001322008 | c.C692G | p.T231S | SNV | WGC094710 | 33 | F | No | 0 |
| SDHB | Chr1: 17,044,851 | NM_003000 | c.C110T | p.P37L | SNV | WGC089881 | 39 | F | No | IVB |
| WAS | ChrX: 48,688,672 | NM_000377 | c.C944T | p.P315L | SNV | WGC089895 | 39 | F | No | IVB |
*The genes were proposed by Huang et al. (2018)
SNV single nucleotide variation, F female, M male