Detection of somatic copy number deletion of the CDKN2A gene by quantitative multiplex PCR for clinical practice.

ABSTRACT:

Background

A feasible method to detect somatic copy number deletion (SCND) of genes is still absent to date.

Methods

Interstitial base-resolution deletion/fusion coordinates for CDKN2A were extracted from published articles and our whole genome sequencing (WGS) datasets. The copy number of the CDKN2A gene was measured with a quantitative multiplex PCR assay P16-Light and confirmed with whole genome sequencing (WGS).

Results

Estimated common deletion regions (CDRs) were observed in many tumor suppressor genes, such as ATM, CDKN2A, FAT1, miR31HG, PTEN, and RB1, in the SNP array-based COSMIC datasets. A 5.1 kb base-resolution CDR could be identified in >90% of cancer samples with CDKN2A deletion by sequencing

SUBMITTER: Tian Y 

PROVIDER: S-EPMC9755846 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature