In this study we carried out an extensive sequencing analysis of the genomic regions of the four MMR and 11 other CRC susceptibility genes, including MUTYH, EPCAM and MSH3. We anticipated that this type of broad analysis, well beyond the boundaries of conventional mutation screening, would identify variants previously missed by standard techniques or would identify variants in genes other than the previously diagnostically tested MMR genes. The gene discussed is MUTYH; the disease is colorectal carcinoma.