Families classified according to familial phenotype
| (Family) history | Number of families (180) | TP53-positive families (%) | |||
| a. Number of families (n=180) presented for TP53 mutation analysis divided into 4 groups of different familial phenotypes (LFS-Chompret revised, LFS-Li, LFL-Birch and LFS-suspected) including the TP53-positive results (n=24) | |||||
| LFS-Chompret revised | Including 10 LFS and 32 LFL | 105 | 22 (21) | ||
| LFS-Li (not fulfilling revised Chompret) | 1 | 0 | |||
| LFL-Birch (not fulfilling revised Chompret) | 4 | 0 | |||
| LFS-suspected | 70 | 2 (2.9) | |||
| At least two primary tumours | 30 | 0 | |||
| Two first degree relatives with cancer (at least one typical LFS tumour) | 19 | 0 | |||
| Early onset sarcoma or brain tumour (<21 years) | 9 | 1 | |||
| Breast cancer before 35 years | 12 | 1 | |||
| (%) | |||||
| b. Families fulfilling the LFS or LFL criteria | |||||
| LFS | 11 | 8 (73) | |||
| LFL* | 36 | 10 (28) | |||
LFS-Chompret revised = the 2009 revised Chompret criteria for Li–Fraumeni syndrome,7 LFS-Li = Li–Fraumeni syndrome according to Li et al, 3 LFL-Birch = Li–Fraumeni-like syndrome according to Birch et al,4 LFS-suspected = LFS suspected families that do not fulfil the revised Chompret, LFS or LFL criteria.
LFL, Li–Fraumeni-like syndrome; LFS, Li–Fraumeni syndrome.
↵* =Excluding LFS.