Table 1.
Number of TP53 negative families available for CHEK2 gene analysis divided into 3 groups: LFS, LFL, or LFS-suggestive family history (n = 65), including the cancer type in tested individuals.
| (family) history | Complete CHEK2 mutation analysis (n = 34) |
1100delC mutation analysis and DNA rearrangements (n = 31) |
Cancer type in tested individuals: B/S/other | ||
| 1 | LFS | 1 | 0 | 1/0/0 | |
| 2 | LFL | 20 | 15 | 18/7/10 | |
| 3 | LFS-suggestive | 13 | 16 | 17/5/7 | |
| -childhood onset sarcoma or brain tumour | 1 | 1 | 0/1/1 | ||
| -at least 2 primary tumours | 3 | 7 | 5/1/4 | ||
| -2 first degree relatives with cancer | 5 | 6 | 6/3/2 | ||
| -breast cancer before 30 years | 4 | 2 | 6/0/0 | ||
LFS = Li-Fraumeni syndrome
LFL = Li-Fraumeni-like syndrome according to Birch or Eeles
B = breast cancer
S = sarcoma
Other = other cancers, including adrenal cortical tumour, bladder cancer, brain tumour, colon cancer, kidney cancer, leukaemia, lung cancer, melanoma, non-Hodgkin lymphoma, ovarian cancer and thyroid cancer.