Clinical and molecular data on the 24 TP53 germline mutation families
| Exon/intron | Base pair change | Protein effect | Family-nr | Criteria | Index case age (age of death) | Family history: tumour type, age (age of death) |
| 4 | c.374C→G | Thr125Arg† | 1302 | C-revised /LFL | Br-20 (25) | B-30/Br-43/Br-46 (46), Br-? (5), Li-? (28) |
| 4 | c.375G→A | Thr125Thr | 1860 | C-revised / LFL | B-40 | Leu-35 (36), Br-24 (24), Br-5 (5), B-41 (43) |
| 5 | c.422G→A | Cys141Tyr | 1856 | LFS-susp | B-24 (24) | B-37 (37) |
| 5 | c.451C→T | Pro151Ser | 6569 | C-revised /LFL | Br-24 | STS-5 (?), ACC-52 (?) |
| 5 | c.473G→A | Arg158His | 93 | C-revised /LFL | Pa-49 (50) | B-34/B-50 (53), STS-36/Lu-36 (38), Bl-61 (61) |
| 5 | c.473G→A | Arg158His | 706 | C-revised /LFS | LMS-44 | St-41/B-43, ChS-30 (35), Br-16 (17), Schw-58, Scc-25 |
| Intr 5 | 560-1G→A | IVS5-1G>A | 1141 | C-revised /LFS | LMS-36/ La-48 (49) | OS-22 (23), Pa-52 (52), LS-2 (2), Br-41 (42), RMS-11 (12), Lu-51 (52) |
| 6 | c.637C→T | Arg213stop | 1308 | C-revised /LFS | B-27/Pa-45 (47) | STS-38/Pa-41 (41), Ly-9 (10), Br-2 (?) |
| 6 | c.638G→A | Arg213Gln | 934 | C-revised /LFL | B-42 | Ki-48/Th-52 (52), Br-? (5), Mes-55 (55), C-26 (27), Mel-46, B-68/ C-71 (?), O-59 (62), Br-28 (32), B-42 (47), St-71 (?), C-? (47), Lu-55/St-59 (?), B-69/Ki-71, Ki-53 |
| 6 | c.641A→G | His214Arg† | 108 | C-revised /LFL | B-35/Br-40/ ACC-41 (41) | B-30/O-30 (33), Leu-36 (37), B-39/Lu-56 (56) |
| 6 | c.665C→T | Pro222Leu† | 3838 | LFS-susp | RMS-4 | Ca-? (68) |
| 7 | c.695T→C | Ile232Thr† | 3070 | C-revised /LFL | RMS-54 | B-37 (37), Br-? (28), Lu-? (22) |
| 7 | c.733G→A | Gly245Ser | 3843 | C-revised /LFL | B-28 (?) | B-34 (35), Li-10, Bl-40/Lu-50 (52) |
| 7 | c.733G→A | Gly245Ser | 3901 | C-revised /LFL | Br-27/Oes-37 (37) | B-28, B-34 (38), Ce-43, B-44 |
| 7 | c.742C→T | Arg248Trp | 1375 | C-revised /LFS | OS-13/B-26 | B-39 (41), B-? (28) |
| 7 | c.742C→T | Arg248Trp | 324 | C-revised /LFL | B-32/LMS-42 | RMS-2/OS-18 (?), Ca-? (40) |
| 8 | c.794T→C | Leu265Pro | 3075 | C-revised /LFS | RMS-2/OS-16 (?) | RMS-2 (3), Br-7/Oes-44 (45), B-40 |
| 8 | c.818G→A | Arg273His | 4057 | C-revised | Br-0 | OS-33 (39) |
| 8 | c.916C→T | Arg306stop | 816 | C-revised /LFS | B-34/RMS-48 | RMS-14 (?), RMS-? (29) |
| 8 | c.916C→T | Arg306stop | 16 | C-revised | RMS-4/B-22 (?) | father Pr-?, mother B-? |
| Intr 9 | c.994-1 G→T | IVS9-1G>T† | 3603 | C-revised /LFS | C-28/STS-37/Br-51 | B-34/Br-36 (41), Lu-61 (61), Ca-? (35), Ca-? (35) |
| 10 | c.1027G→T | Glu343stop†* | 5838 | C-revised | ACC-5 | |
| 10 | c.1031T→C | Leu344Pro | 37 | C-revised /LFS | B-32/B-33/Scc-34 | OS-18 (20), Lu-55 (57), OS-? (40), OS-? (40), B-? (?), OS-? (?), Br-? (?) |
| 2–11 | c.1-?_1182 +?del | Del exon 2-11 | 2556 | C-revised | ChS-13/LMS-45 /C-48/OS-49 (?) | B-29 (29), C-69 |
LFL, Li–Fraumeni-like syndrome criteria according to Birch; C-revised, Chompret criteria revised in 2009; LFS, classical Li–Fraumeni syndrome criteria; LFS-susp, suspected for LFS but not fulfilling LFS/LFL/revised Chompret criteria.
ACC, adrenal cortical carcinoma; B, breast cancer; Bl, bladder cancer; Br, brain tumour; C, colorectal cancer; Ca, cancer unspecified; Ce, cervical cancer; ChS, chondrosarcoma; Ki, kidney cancer; La, laryngeal carcinoma; Leu, leukaemia; Li, liver cancer; LMS, leiomyosarcoma; LS, lymphosarcoma; Lu, lung cancer; Ly, lymphoma; Mel, melanoma; Mes, mesothelioma; O, ovarian cancer; Oes, oesophageal cancer; OS, osteosarcoma; Pa, pancreatic cancer; Pr, prostate cancer; RMS, rhabdomyosarcoma; Schw, schwannoma; Scc, squamous cell carcinoma; St, stomach cancer; STS, soft tissue sarcoma; Th, thyroid cancer; -?, age of diagnosis unknown; (?), age of death unknown; Intr, intron.
↵† Not included in IARC database.
↵* de novo mutation. In italics=tumours of patients for which the date of birth or diagnosis are unknown.