Polymorphisms in PAH metabolising enzyme CYP1A1 in colorectal cancer and their clinicopathological correlations

CYP1A1 enzyme is integral to the biotransformation of polycyclic aromatic hydrocarbons to carcinogenic compounds. This study aimed to screen mutations in exon 7 (ex7) of CYP1A1 and investigate its clinicopathological correlations in fresh tissue samples from 85 patients (42 women; 43 men) with colorectal carcinoma (CRC). Tumour tissues and matched non-neoplastic mucosa tissues were collected prospectively. Genomic DNA was extracted from all tissues, and subject to high-resolution melt curve analysis for CYP1A1-ex7. Sanger sequencing was employed to detect specific mutations. Three known single nucleotide polymorphisms (SNPs) were identified in both tumour and matched non-neoplastic tissue for the same individual. Of the 85 patients, one third (n = 28) harboured either rs1048943, rs1799814, or rs41279188. Patients who had a SNP at ex7 of CYP1A1 were significantly more likely to be over 65 years of age (p = 0.015). Furthermore, individuals harbouring a SNP at exon7 showed a low incidence of perineural cancer infiltration (p = 0.025) when compared to the wild-type population. Overall, polymorphisms at exon 7 of CYP1A1 are present in patients with CRC and associated with a few clinicopathological characteristics.