Abstract
Mutation analysis of whole coding sequence of CHEK2 gene was performed in 185 patients with NHL, mainly with DLBCL and FL. Individual exons were PCR-amplified and analyzed by DHPLC.
Samples with aberrant elution profiles were sequenced from independent amplification. The large rearrangements of CHEK2 gene were analyzed MLPA.
The population frequency of new alterations was estimated in population of non cancer controls. The CHEK2 region (exons 2 a 3) coding for highly conservative fork head associated (FHA) domain was shown to contain several gene alterations [c.470T>C (I157T), c.542G>A (R181H), IVS1-5T>A, IVS2+1G>T].
Frequency of alterations in this region was significantly higher in NHL patients (5.95%; 11/185) than in controls (2.78%; 19/683) with OR = 2.2 (95% CI 1.03-4.73; p=0.04). Even more significant result was found in subpopulation of FL patients (8.6%; 5/58; OR = 3.3; 95% CI 1.18-9.18; p=0.02).
No large rearrangement was found by MLPA.