Table 2. Patient information for protein-truncating mutation carriers.
| Sample ID | Nucleotide change | Age at diagnosis | Tumour stage | Node stage | Metastases | Final Gleason | Years to death | Prostate cancer | Breast or ovarian cancer | Other cancers in the family |
|---|---|---|---|---|---|---|---|---|---|---|
| PR1 | 1231delA | 65 | T3b | Nx | M0 | 4+5 | Alive (8) | Twin brother | No | No |
| PR2 | 1265delA | 58 | Tx | Nx | Mx | – | 2 | Father, uncle | Sister (Ov), grandmother (Br) | Bladder |
| PR3 | 1787delATGAAACATCTTA | 55 | T2 | N0 | M0 | 4+4 | 4 | No | No | Stomach |
| PR4 | 1813insA | 60 | T2b | N0 | M0 | 4+4 | 5 | Father, grandfather | Sister (Br) | Bowel, spine, pancreas |
| PR5 | 2807delAACA | 59 | T2b | N0 | M0 | 3+5 | 9 | Brother | Sister (Br), Sister (Br) | Leukaemia, head |
| PR6 | 2836delGA | 51 | T1c | N0 | M0 | 3+3 | Alive (6) | No | No | Pancreas, stomach |
| PR7 | 3158T>G | 46 | T1c | N1 | M0 | 3+3 | Alive (10) | Father | Grandmother (Br) | Lung |
| PR8 | 3405C>A | 62 | T1c | N0 | M0 | – | 8 | Brother | No | Stomach x2, bone, uterus, throat |
| PR9 | 3847delGT | 56 | T4 | Nx | M0 | 4+5 | 2 | Uncle | No | Bowel |
| PR10 | 4478delAAAG | 54 | T2c | N0 | M0 | 4+5 | Alive (18) | Brother, father | Sister (Br), aunt (Ov), daughter (Br) | Thyroid, myeloma |
| PR11 | 4877delAA | 54 | T3b | N1 | M1 | 4+4 | Alive (7) | Father, uncle 4x, first cousin | Aunt (Br) | No |
| PR12 | 4877delAA | 55 | T2a | N0 | M0 | 4+3 | Alive (8) | No | Mother (Br), aunt (Ov) | No |
| PR13 | 4981delT | 62 | Tx | Nx | Mx | 3+3 | Alive (14) | Two brothers | Sister (Br), aunt (Br), grandmother (Br) | Lung x2, bowel |
| PR14 | 5303delTT | 56 | T4 | N0 | M0 | – | 1 | Brother, father | No | No |
| PR15 | 5645C>A | 57 | T2a | N0 | M0 | 4+4 | 11 | No | No | Bowel |
| PR16 | 6405delCTTAA | 53 | T2a | N1 | M0 | 4+4 | 3 | No | Sister (Br), mother (Br), aunt (Br) | Pancreas, leukaemia, skin, glioma |
| PR17 | 6405delCTTAA | 48 | T3 | N0 | M0 | 4+5 | 5 | No | No | Bowel x2 |
| PR18 | 8904delC | 56 | T3a | N0 | M0 | 3+5 | 4 | Father | No | Carcinomatosis |
| PR19 | 9253insA | 57 | T4 | Nx | M1 | 5+5 | 2 | No | No | Bowel |
All 19 germline mutations were identified in patients diagnosed at ⩽65 years old. In all, 12 of 19 carriers had died with relatively short survival periods (1–11 years, mean 4.75, median 4.5). In all, 12 mutation carriers had ⩾1 recorded first or second degree relative with prostate cancer, 9 carriers had ⩾1 known first or second degree relative with breast (Br) or ovarian (Ov) cancer. Clinical and family history data are detailed here if available. The tumour stage, node stage and metastases are given as Tx, Nx and Mx, respectively, if their status is unknown.