Table 3.
List of 11 cases identified with somatic reversion mutation(s).
| Patient | Sex | Age | Cancer type | Clinical stage | Gene | Germline mutation | Somatic reversion mutations/status |
|---|---|---|---|---|---|---|---|
| P1 | F | 47 | Breast | IV | BRCA1 | c.2341G>T p.E781* | c.2307_2348del p.S770_I783del/confirmed c.2339_2347del p.Q780_I783delinsL/confirmed c.2343A>T p.E781Y/confirmedc.2342A>C p.E781S/confirmedc.2341G>C p.E781Q/confirmed |
| P2 | F | 42 | Breast/ovarian | IV(Br.)/II(ov.) | BRCA1 | c.3754_3755del p.L1252fs | c.3710_3711dup p.P1238fs/confirmed |
| P3 | F | 58 | Breast | IV | PALB2 | c.2480_2481del p.T827fs | c.2469_2492del p.C824_L831del/confirmedc.2466del p.Q822fs/confirmedc.2450_2465del p.T817fs/confirmedc.2457del p.E820fs/confirmedc.2339del p.G780fs/putativec.2322_2325del p.K774fs/putativec.2313del p.S771fs/putativec.2298_2301del p.C768fs/putative |
| P4 | F | 36 | Breast | IV | BRCA2 | c.8451T>A p.C2817* | c.8450G>C p.C2817S/confirmed |
| P5 | F | 39 | Breast | III | BRCA2 | c.2870del p.N957fs | c.2837_2838insG p.D946fs/confirmed |
| P6 | F | 46 | Breast | IV | BRCA1 | c.3436_3439del p.C1146fs | c.3430_3450del p.Q1144_P1150del/confirmed |
| P7 | F | 36 | Breast | IV | BRCA2 | c.8878C>T p.Q2960* | c.8878C>A p.Q2960K/confirmed |
| P8 | F | 53 | Breast/ovarian | IV | BRCA1 | c.66dup p.E23fs | c.67G>C p.E23Q/confirmed |
| P9 | F | 54 | Ovarian | IV | BRCA1 | c.4065_4068del p.N1355fs | c.4096G>A p.G1366S/confirmed |
| P10 | M | 73 | Pancreatic | IV | BRCA2 | c.3109C>T p.Q1037* | c.3109_3111del p.Q1037del/confirmedc.3109_3111delinsTAC p.Q1037Y/confirmedc.3109_3110delinsTC p.Q1037S/confirmedc.3109C>G p.Q1037E/confirmed |
| P11 | F | 63 | Lung | IV | BRCA2 | c.2979G>A p.W993* | c.2978G>C p.W993S/confirmed |