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The Czech Republic has one of the highest incidences of colorectal cancer (CRC) in Europe. To evaluate whether sporadic CRCs in Czech patients have specific mutational profiles we analysed somatic genetic changes in known CRC genes ( APC ,  KRAS ,  TP53 ,  CTNNB1 ,  MUTYH  and  BRAF , loss of heterozygosity (LOH) at the  APC  locus, microsatellite instability (MSI), and methylation of the  MLH1  promoter) in 103 tumours from 102 individuals. The most frequently mutated gene was  APC  (68.9% of tumours), followed by  KRAS  (31.1%),  TP53  (27.2%),  BRAF  (8.7%) and  CTNNB1  (1.9%). Heterozygous germline  MUTYH  mutations in 2 patients were unlikely to contribute to the development of their CRCs. LOH at the  APC  locus was found in 34.3% of tumours, MSI in 24.3% and  MLH1  methylation in 12.7%. Seven tumours (6.9%) were without any changes in the genes tested. The analysis yielded several findings possibly specific for the Czech cohort. Somatic  APC  mutations did not cluster in the mutation cluster region (MCR). Tumours with MSI but no  MLH1  methylation showed earlier onset and more severe mutational profiles compared to MSI tumours with  MLH1  methylation.  TP53  mutations were predominantly located outside the hot spots, and transitions were underrepresented. Our analysis supports the observation that germline  MUTYH  mutations are rare in Czech individuals with sporadic CRCs. Our findings suggest the influence of specific ethnic genetic factors and/or lifestyle and dietary habits typical for the Czech population on the development of these cancers.

Molecular Genetic Analysis of 103 Sporadic Colorectal Tumours in Czech Patients