Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series.

ABSTRACT:

Objective

The serrated pathway is a distinct genetic/epigenetic mechanism of the adenoma-carcinoma sequence in colorectal carcinogenesis. Although many groups have reported the genetic-phenotypic correlation of serrated lesions (SLs), previous studies regarding the serrated pathway were conducted on patients with SLs that have different germline and environmental genetic backgrounds. We aimed to compare pure somatic genetic profiles among SLs within identical patient with SPS.

Results

We analyzed SLs from one patient with SPS (Case #1) and compared DNA variant profiles using targeted DNA multigene panels via NGS among the patient's hyperplastic polyp (HP), three sessile serrated lesions (SSLs), and one traditional serrated adenoma (TSA), and separately analyzed three SSLs an

SUBMITTER: Hidaka M 

PROVIDER: S-EPMC9682711 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature