The tissue and circulating cell-free DNA-derived genetic landscape of premalignant colorectal lesions and its application for early diagnosis of colorectal cancer.

ABSTRACT: Colorectal adenomas (CRAs) represent precancerous lesions that precede the development of colorectal cancer (CRC). Regular monitoring of CRAs can hinder the progression into carcinoma. To explore the utility of tissue DNA and circulating cell-free DNA (cfDNA) in early diagnosis of CRC, we retrospectively sequenced paired tissue and plasma samples from 85 patients with conventional CRAs. The genetic alterations identified were compared with those from 78 stage-I CRC patients (CRC-I) in the ChangKang project. Within the CRA cohort, we pinpointed 12 genes, notably APC, KRAS, and SOX9, that exhibited significant mutated rates in tissue. Patients harboring KMT2C and KMT2D mutations displayed persistent polyps. By comparing with the mutational profiles of metas

SUBMITTER: Chen Q 

PROVIDER: S-EPMC11564342 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature