Mutation detection in normal mucosa and early lesions of colorectal cancer

摘要: Colorectal cancer (CRC) has a relatively poor prognosis when detected at later stage, therefore understanding its development to allow prevention or early detection is key improving outcomes. Bowel screening allows for the of tumours and precursor lesions. Even earlier changes could potentially be detected; genetic aberrations within normal bowel before phenotypic occur. Early lesions may develop independently throughout through field effect. FAP adenomas are useful model due developing same environment all incurring first “hit” APC. Using next generation sequencing profiles can compared better understand these lesions. Firstly sensitivity pyrosequencing NGS was determined as value PCR-based mutant enrichment techniques. Samples carcinoma, adenoma their associated normals alongside mucosa from patients with colonoscopies were tested mutations in commonly mutated genes CRC using NGS. Multiple four also this mutation panel. Alongside this, copy number analysis performed. The mutational data used ascertain pattern bowel. Mutations carcinoma APC, KRAS, CTNNB1 SMAD4. KRAS differed matched tumour. No oncogenes colonoscopies. Studying revealed that some shared specific lesions, indicating they clonally related. These results have confirmed previously findings well describing This combined large amount similarity terms seen patient provides evidence theory.