Whole-Genome Profiles of Malay Colorectal Cancer Patients with Intact MMR Proteins.

ABSTRACT:

Background

This study aimed to identify new genes associated with CRC in patients with normal mismatch repair (MMR) protein expression.

Method

Whole-genome sequencing (WGS) was performed in seven early-age-onset Malay CRC patients. Potential germline genetic variants, including single-nucleotide variations and insertions and deletions (indels), were prioritized using functional and predictive algorithms.

Results

An average of 3.2 million single-nucleotide variations (SNVs) and over 800 indels were identified. Three potential candidate variants in three genes-IFNE, PTCH2 and SEMA3D-which were predicted to affect protein function, were identified in three Malay CRC patients. In addition, 19 candidate genes-ANKDD1B, CENPM, CLDN5, MAGEB16, MAP3K14, MOB3C,

SUBMITTER: Juhari WKW 

PROVIDER: S-EPMC8471947 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature