Tumour type specific cancer risks in TP53 mutation families, TP53-positive LFL families and TP53-negative Li–Fraumeni-like syndrome (LFL) families
| ICD code | Location | Obs | Exp | RR | 95% CI | p Value | Pa n (%) | No of fam |
| a. Cancer risks for TP53 mutation families | ||||||||
| – | All | 106 | 26 | 4 | 3.3 to 4.8 | 0.000 | 69 (65) | 24 |
| Typical Li–Fraumeni syndrome (LFS) tumours | ||||||||
| 170 | Bones | 9 | 0.08 | 107 | 49 to 203 | 0.000 | 5 (56) | 6 |
| 171 | Connective tissues | 14 | 0.23 | 61 | 33 to 102 | 0.000 | 10 (71) | 11 |
| 174 | Breast | 28 | 4.4 | 6.4 | 4.3 to 9.3 | 0.000 | 22 (79) | 16 |
| 191 | Brain | 13 | 0.37 | 35 | 19 to 60 | 0.000 | 9 (69) | 10 |
| 194 | Adrenal cortical | 2 | * | 1 (50) | 2 | |||
| 205 | Leukaemia | 2 | 0.6 | 3.2 | 0.4 to 12 | 0.258 | 2 (100) | 2 |
| Other tumours | ||||||||
| 153 | Colon | 6 | 2.2 | 2.8 | 1 to 6 | 0.049 | 3 (50) | 3 |
| 155 | Liver | 2 | 0.1 | 18 | 2.1 to 64 | 0.017 | 1 (50) | 2 |
| 157 | Pancreas | 4 | 0.54 | 7.3 | 2 to 19 | 0.006 | 3 (75) | 4 |
| Other tumours | 20 | 11 | 1.8 | 1.1 to 2.8 | ||||
| Stomach | 3 | 1.1 | 2.6 | 0.5 to 7.7 | 0.215 | 2 (67) | 3 | |
| Lung | 6 | 3.9 | 1.5 | 0.6 to 3.4 | 0.398 | 2 (33) | 5 | |
| Pleura/mesothelium | 1 | 0.1 | 9.6 | 0.2 to 53 | 0.21 | 1 (100) | 1 | |
| Melanoma | 1 | 0.7 | 1.4 | 0.03 to 7.6 | 1.000 | 1 (100) | 1 | |
| Cervix uteri | 1 | 0.4 | 2.6 | 0.07 to 15 | 0.622 | 1 (100) | 1 | |
| Ovarium | 1 | 0.6 | 1.6 | 0.04 to 8.7 | 0.933 | 1 (100) | 1 | |
| Prostate | 1 | 1.9 | 0.5 | 0.01 to 3 | 0.896 | 0 | 1 | |
| Bladder | 1 | 0.9 | 1.1 | 0.03 to 6.1 | 1.000 | 0 | 1 | |
| Kidney | 3 | 0.7 | 4.4 | 0.9 to 13 | 0.067 | 3 (100) | 2 | |
| Other/unspecified parts of nervous system | 1 | 0.03 | 39 | 1 to 218 | 0.075 | 1 (100) (schwan-noma) | 1 | |
| Non-Hodgkin lymphoma | 1 | 0.8 | 1.3 | 0.03 to 7.1 | 1.000 | 1 (100) | 1 | |
| Unknown | 6 | |||||||
| b. Cancer risks for TP53-positive LFL families | ||||||||
| – | All | 55 | 8.6 | 6.4 | 4.8 to 8.3 | 0.000 | 38 (69) | 10 |
| Typical LFS tumours | ||||||||
| 170 | Bones | – | ||||||
| 171 | Connective tissues | 4 | 0.1 | 41 | 11 to 104 | 0.000 | 2 (50) | 4 |
| 174 | Breast | 20 | 2 | 10 | 6.1 to 16 | 0.000 | 16 (80) | 9 |
| 191 | Brain | 9 | 0.16 | 57 | 26 to 108 | 0.000 | 6 (67) | 6 |
| 194 | Adrenal cortical | 1 | * | 0 | 1 | |||
| 205 | Leukaemia | 2 | 0.23 | 8.7 | 1.1 to 31 | 0.052 | 2 (100) | 2 |
| Other tumours | ||||||||
| 153 | Colon | 4 | 0.7 | 5.6 | 1.5 to 14 | 0.014 | 2 (50) | 1 |
| 155 | Liver | 2 | 0.04 | 57 | 6.9 to 205 | 0.004 | 1 (50) | 2 |
| 189 | Kidney | 2 | 0.2 | 9.6 | 1.2 to 35 | 0.045 | 2 (100) | 1 |
| Other tumours | 11 | 2.6 | 4.3 | 2.5 to 8.1 | 9 (69) | |||
| Stomach | 1 | 0.33 | 3.0 | 0.1 to 17 | 0.555 | 1 (100) | 1 | |
| Pancreas | 1 | 0.17 | 5.8 | 0.2 to 32 | 0.321 | 1 (100) | 1 | |
| Lung | 3 | 0.8 | 3.7 | 0.8 to 11 | 0.103 | 1 (33) | 2 | |
| Pleura/mesothelium | 1 | 0.02 | 42 | 1.1 to 232 | 0.072 | 1 (100) | 1 | |
| Melanoma | 1 | 0.33 | 3 | 0.1 to 17 | 0.558 | 1 (100) | 1 | |
| Cervix uteri | 1 | 0.2 | 5.4 | 0.1 to 30 | 0.339 | 1 (100) | 1 | |
| Ovarium | 1 | 0.3 | 3.4 | 0.1 to 19 | 0.503 | 1 (100) | 1 | |
| Prostate | 1 | 0.2 | 4.9 | 0.1 to 27 | 0.369 | 0 | 1 | |
| Bladder | 1 | 0.2 | 5 | 0.1 to 28 | 0.364 | 0 | 1 | |
| c. Cancer risks for TP53-negative LFL families | ||||||||
| – | All | 112 | 25 | 4.5 | 3.7 to 5.4 | 0.000 | 63 (56) | 26 |
| Typical LFS tumours | ||||||||
| 170 | Bones | 4 | 0.07 | 60 | 16 to 154 | 0.000 | 2 (50) | 3 |
| 171 | Connective tissues | 12 | 0.21 | 58 | 30 to 102 | 0.000 | 10 (83) | 11 |
| 174 | Breast | 35 | 3.41 | 10 | 7.1 to 14.3 | 0.000 | 25 (71) | 24 |
| 191 | Brain | 11 | 0.34 | 33 | 16 to 58 | 0.000 | 6 (55) | 7 |
| 194 | Adrenal cortical | 1 | * | 1 (100) | 1 | |||
| 205 | Leukaemia | 4 | 0.55 | 7.3 | 2 to 19 | 0.006 | 1 (25) | 4 |
| Other tumours | ||||||||
| 153 | Colon | 6 | 2 | 3.1 | 1.1 to 6.7 | 0.032 | 5 (83) | 4 |
| 162 | Lung | 10 | 4.5 | 2.3 | 1.1 to 4.1 | 0.033 | 2 (20) | 8 |
| 172 | Melanoma | 8 | 0.7 | 12 | 5.3 to 24 | 0.000 | 5 (63) | 7 |
| Other tumours | 17 | 7 | 2.4 | 1.4 to 3.9 | 8 (47) | |||
| Salivary gland | 1 | 0.05 | 20 | 0.5 to 109 | 0.12 | 1 (100) | 1 | |
| Pharynx | 1 | 0.16 | 6.4 | 0.2 to 36 | 0.292 | 1 (100) | 1 | |
| Stomach | 4 | 1.15 | 3.5 | 1 to 9 | 0.06 | 2 (50) | 2 | |
| Pancreas | 1 | 0.51 | 2 | 0.1 to 11 | 0.786 | 0 | 1 | |
| Cervix uteri | 1 | 0.31 | 3.3 | 0.1 to 18 | 0.52 | 0 | 1 | |
| Uterus | 1 | 0.46 | 2.2 | 0.1 to 12 | 0.732 | 0 | 1 | |
| Prostate | 2 | 2.07 | 1 | 0.1 to 3.5 | 1.000 | 2 (100) | 2 | |
| Bladder | 1 | 0.98 | 1.0 | 0.0 to 5.7 | 1.000 | 0 | 1 | |
| Kidney | 1 | 0.69 | 1.5 | 0.0 to 8.1 | 0.983 | 0 | 1 | |
| Thyroid | 1 | 0.14 | 7.3 | 0.2 to 40 | 0.264 | 1 (100) | 1 | |
| Non-Hodgkin lymphoma | 3 | 0.44 | 4.6 | 0.6 to 17 | 0.146 | 1 (33) | 3 | |
| Unknown | 4 | |||||||
See methods section for estimating relative risk.
ICD code, International Classification of Disease code; Obs, observed; Exp, expected; RR, relative risk; Pa, confirmed by pathology report or clinical records; No of fam, number of families in which the specific tumor type occurred.
↵* No data were available on occurrence in the general population.