Table 2

Families classified according to familial phenotype

(Family) historyNumber 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 revisedIncluding 10 LFS and 32 LFL10522 (21)
LFS-Li (not fulfilling revised Chompret)10
LFL-Birch (not fulfilling revised Chompret)40
LFS-suspected702 (2.9)
At least two primary tumours300
Two first degree relatives with cancer (at least one typical LFS tumour)190
Early onset sarcoma or brain tumour (<21 years)91
Breast cancer before 35 years121
b. Families fulfilling the LFS or LFL criteria
LFS118 (73)
LFL*3610 (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.