Multi-region and single-cell sequencing reveal variable genomic heterogeneity in rectal cancer.

ABSTRACT:

Background

Colorectal cancer is a heterogeneous group of malignancies with complex molecular subtypes. While colon cancer has been widely investigated, studies on rectal cancer are very limited. Here, we performed multi-region whole-exome sequencing and single-cell whole-genome sequencing to examine the genomic intratumor heterogeneity (ITH) of rectal tumors.

Methods

We sequenced nine tumor regions and 88 single cells from two rectal cancer patients with tumors of the same molecular classification and characterized their mutation profiles and somatic copy number alterations (SCNAs) at the multi-region and the single-cell levels.

Results

A variable extent of genomic heterogeneity was observed between the two patients, and the degree of ITH increased when analyzed on th

SUBMITTER: Liu M 

PROVIDER: S-EPMC5701298 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature