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.
From: The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype
| Â | (family) history | Â | Complete CHEK2 mutation analysis (n = 34) | 1100delC mutation analysis and DNA rearrangements (n = 31) | Cancer type in tested individuals: B/S/other |
|---|---|---|---|---|---|
1 | LFS | Â | 1 | 0 | 1/0/0 |
2 | LFL | Â | 20 | 15 | 18/7/10 |
3 | LFS-suggestive | Â | 13 | 16 | 17/5/7 |
| Â | Â | -childhood onset sarcoma or brain tumour | 1 | 1 | 0/1/1 |
| Â | Â | -at least 2 primary tumours | 3 | 7 | 5/1/4 |
| Â | Â | -2 first degree relatives with cancer | 5 | 6 | 6/3/2 |
| Â | Â | -breast cancer before 30 years | 4 | 2 | 6/0/0 |