Aim: To determine the frequency of NOD2 gene c.3019-3020insC (rs5743293) and c.2104C>T (rs2066844) allelic variants in the patients with Crohn’s disease (CD), colorectal cancer (CRC) and in the control groups and to study the association of these mutations with the onset time of the diseases, gender and surgical interventions. Materials and Methods: The diagnoses of CD and CRC were established based on standard clinical examination and laboratory tests. Molecular genetic study of a frameshift 3020insC mutations of NOD2 gene were performed in 54 patients with CD; missense R702W mutations of the NOD2 gene — in 41 CD patients and 38 healthy controls. In CRC group, 3020insC mutation was tested in 48 patients, R702W mutation — in 40 patients and 40 healthy controls. PCR-RFLP technique was used to identify the mutations. Results: The frequency of the minor allele (M) of 3020insC mutation of NOD2 gene in the patients with CD was significantly higher than in the control group (р = 0.01). The age at CD onset in females carrying 3020insC mutation was significantly lower (22.5 ± 1.6 years) when compared with females without the mutation (32.7 ± 2.5 years) (p = 0.002). There was no significant difference in the allele frequencies and genotype distributions of R702W mutation in the patients with CD in comparison with the controls. The mean age at CD onset in the patients carrying R702W mutation was significantly lower (28.4 ± 1.4 years) compared with the patients without the mutation (39.4 ± 2.8 years) (p < 0.01). Surgical interventions for CD was required in 40.0% of 3020insC mutation carriers. Among patients with CRC, only 4.2% carried 3020insC mutation and 20.0% R702W mutation. Our study suggests that R702W and 3020insC mutations are not associated with the risk of CRC in Ukrainian patients. There was no statistically significant difference in mean age at CRC onset in patients with/without R702W mutation. Only one patient with CRC had two mutations. Conclusion: The earlier age at CD onset was associated with 3020insC mutation, but only in female patients. The association between R702W mutation and the earlier age of CD onset was found. Patients with 3020insC mutation showed a trend to a higher frequency of surgical interventions for CD.

To evaluate the average age of familial adenomatous polyposis (FAP) onset in both males, females and in their relatives, carriers or not carriers of the APC gene mutations, to estimate the anticipation in successive generations for early identification of the individuals in the risk group. Methods. The medical records, genealogical information were gathered and molecular genetic study of blood was carried out in 25 probands with adenomatous polyposis. FAP was confirmed in 44.0 % of probands. The probands with FAP had 36 affected relatives. The amplified fragments of the APC gene were screened for the mutations involving heteroduplex analysis an d detection of single-stranded conformational polymorphism, heteroduplex analysis, and also high resolution melting analysis. The age of FAP onset was evaluated in probands and their relatives. The anticipation index (A) was calculated. Results. Among patients with FAP 61.7 % were males and 38.3 % were females. The age of FAP onset in males was 36.0 ± 1.4 years, while in females the disease manifested earlier-in 29.5 ± 2.4 years (p<0.01). The APC mutations, including four novel mutations, were found in 63.6 % of probands with FAP. The lowest age of polyposis onset was observed in carriers of the APC mutation с.3927_3931delAAAGA p.Q1309fs. The average age difference between FAP onset in the parents and their offspring was 12.0 ± 1.7 years. In 3 of 4 families with FAP and novel mutations of the APC gene predominance of males (12:4) and anticipation phenomenon were observed.The strongest age correlations of FAP onset were found in mother-offspring pairs and parents-son pairs. The statistically significant difference between the data confirmed more similarities of descendant, especially sons, with parents. Conclusions. There was no statisti