Table 2 Literature on CHEK2 analysis in LFS and LFS-related families
From: The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype
| Â | number of families tested: LFS/LFL/suggestive | total CHEK2 analysis | CHEK2 1100delC analysis + DNA rearrangements | mutations found |
|---|---|---|---|---|
Allinen et al. [11] | 1/20/0 | 21 | 0 | p.Ile157Thr |
Bell et al. [10] | 4/18* | 22 | 0 | c.1100delC p.Ile157Thr |
Bougeard et al. [12] | 0/4/0 | 4 | 0 | - |
Lee et al. [13] | 10/49* | 59 | 0 | p.Arg145Trp p.Arg3Trp p.Ile157Thr |
Siddiqui et al. [16] | 1/13/1 | 0 | 15 | - |
Sodha et al. [15] | 5/21/0 | 26 | 0 | IVS5-11G>A c.483-485delAGA |
Vahteristo et al. [14] | 1/6/32 | 39 | 0 | c.1100delC |
Walsh et al. [16] | 3/7/0 | 10 | Â | - |
our results | 1/35/29 | 34 | 31 | p.Phe328Ser c.1100delC c.1081-?_1771+?del |