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Published on: April 11, 2016
Mutation analyses of 268 candidate genes in human tumor cell lines
1Myriad Genetics, Inc., 420 Wakara Way, Salt Lake City, Utah 84108, USA. teng@arcaris.com
Abstract:
We have performed a homozygous deletion screen on 268 candidate genes in 90 human tumor cell lines derived from multiple types of cancers. Most of the candidate genes investigated have been proposed to be involved in cellular processes that are germane to cancer progression, such as cell cycle control, genome maintenance, chromatin remodeling, cell adhesion, and apoptosis. We have detected novel homozygous deletions affecting four independent loci: Brahma-related gene (SMARCA4) on chromosome 19p in the TSU-Pr1 prostate and A427 lung carcinoma lines, Map Kinase Kinase 3 (MAP2K3) on 17q in the NCI-H774 lung tumor cell line, TMPRSS2 on 21q in the Bx PC-3 pancreatic carcinoma line, and Cadherin 6 (CDH6) on 5p in the SK-LU-1 lung carcinoma line. Subsequent analyses of the coding sequences of these four genes using cDNAs from a panel of tumor cell lines revealed multiple sequence variants. The results of this mutation study serve to demonstrate the feasibility of performing high-throughput screens of candidate genes in tumor cell lines to identify genes that may be targeted for mutation during the development of cancer.
Insights
This study identified novel homozygous deletions in key cancer-related genes like SMARCA4 and MAP2K3 across various human tumor cell lines. These findings highlight the potential for high-throughput screening to discover mutation targets in cancer development.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Cancer progression involves alterations in genes controlling critical cellular processes.
- Identifying genes frequently mutated in tumors is crucial for targeted therapies.
Purpose of the Study:
- To conduct a homozygous deletion screen of candidate genes in human tumor cell lines.
- To identify novel genetic alterations associated with cancer development.
Main Methods:
- Performed homozygous deletion screen on 268 candidate genes in 90 human tumor cell lines.
- Analyzed coding sequences of identified genes for sequence variants using cDNA.
Main Results:
- Detected novel homozygous deletions in SMARCA4, MAP2K3, TMPRSS2, and CDH6 genes.
- Found multiple sequence variants in the coding regions of these four genes.
- Demonstrated feasibility of high-throughput screening for cancer gene mutation discovery.
Conclusions:
- Homozygous deletions in SMARCA4, MAP2K3, TMPRSS2, and CDH6 are implicated in specific cancer types.
- High-throughput screening of candidate genes in tumor cell lines is effective for identifying cancer mutation targets.
