Table 1.
PVs/LPVs harboured by patients with BC, OC, or PC analysed by multi-gene panel testing
| Gene | Variant type | HGVS nomenclature | Protein change | Variant interpretation | Patients n (%) |
|---|---|---|---|---|---|
| Breast cancer patients | |||||
| MUTYH | M | c.1145G>A | p.Gly382Asp | PV | 5 (20.6) |
| CHEK2 | fs | c.1229del | p.Thr410fs | PV | 2 (8.2) |
| CHEK2 | IVS | c.721+3A>T | — | CIP/PV | 2 (8.2) |
| CDH1 | IVS | c.2164+2T>C | — | PV | 1 (4.2) |
| MSH2 | M | c.1045C>G | p.Pro349Ala | CIP/PV | 1 (4.2) |
| PMS2 | fs | c.2182_2184delinsG | p.Thr728Alafs | CIP/PV | 1 (4.2) |
| PMS2 | M | c.137G>T | p.Ser46Ile | LPV | 1 (4.2) |
| PMS2 | M | C.2T>C | p.Met1Thr | PV | 1 (4.2) |
| RAD51C | IVS | c.1026+5_1026+7del | — | LPV | 1 (4.2) |
| RAD51C | NS | c.224dup | p.Tyr75Ter | PV | 1 (4.2) |
| RAD51C | M | c.773G>A | p.Arg258His | LPV | 1 (4.2) |
| PTEN | M | c.284C>A | p.Pro95Gln | PV | 1 (4.2) |
| RAD50 | NS | c.3598C>T | p.Arg1200Ter | PV | 1 (4.2) |
| MUTYH | M | c.494A>G | p.Tyr165Cys | PV | 1 (4.2) |
| PALB2 | fs | c.758dup | p.Ser254fs | PV | 1 (4.2) |
| PALB2 | fs | c.1050_1053del | p.Thr351fs | PV | 1 (4.2) |
| ATM | M | c.8147T>C | p.Val2716Ala | LPV | 1 (4.2) |
| ATM | NS | c.8818_8821dup | p.Ser2941Ter | PV | 1 (4.2) |
| Ovarian cancer patients | |||||
| MUTYH | M | c.1145G>A | p.Gly382Asp | PV | 2 (50) |
| ATM | IVS | c.4776+1G>T | — | LPV | 1 (25) |
| PMS2 | M | c.2249G>A | p.Gly750Asp | LPV | 1 (25) |
| Pancreatic cancer patients | |||||
| MUTYH | M | c.1145G>A | p.Gly382Asp | PV | 1 (33.3) |
| EPCAM | NS | c.227C>G | p.Ser76Ter | PV | 1 (33.3) |
| ATM | M | c.8558C>T | p.Thr2853Met | LPV | 1 (33.3) |
BC, breast cancer; CIP, conflicting interpretations of pathogenicity; fs, frameshift; IVS, intronic variant sequences; LPV, likely pathogenic variant; M, missense; NS, nonsense; OC, ovarian cancer; PC, pancreatic cancer; PV, pathogenic variant.