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Updated: Aug 8, 2026

Exploring Caspase Mutations and Post-Translational Modification by Molecular Modeling Approaches
Published on: October 13, 2022
Mutational analysis of proapoptotic caspase-9 gene in common human carcinomas
Young Hwa Soung1, Jong Woo Lee, Su Young Kim
1Department of Pathology, College of Medicine, Catholic University of Korea, Seoul, Korea.
Abstract:
Mounting evidence indicates that deregulation of apoptosis is involved in the mechanisms of cancer development. Caspase-9 plays a crucial role in the initiation phase of the intrinsic apoptosis pathway. To explore the possibility that the genetic alterations of caspase-9 might be involved in the development of human cancers, we analyzed the entire coding region and all splice sites of the human caspase-9 gene for the detection of somatic mutations in a series of 353 cancers, including 180 gastric, 104 colorectal and 69 lung adenocarcinomas. Overall, we detected three somatic mutations of caspase-9, but all of the mutations were silent mutations. The mutations were observed in 2 of 104 colorectal carcinomas and 1 of 180 gastric carcinomas. These data indicate that the caspase-9 gene is rarely mutated in gastric, colorectal and lung adenocarcinomas, and suggest that caspase-9 gene mutation may not contribute to the pathogenesis of these cancers.
Insights
Genetic alterations in caspase-9 (a key apoptosis regulator) are rarely found in gastric, colorectal, and lung cancers. This suggests caspase-9 mutations do not significantly contribute to the development of these common cancers.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Deregulation of apoptosis is a hallmark of cancer development.
- Caspase-9 is a critical initiator of the intrinsic apoptosis pathway.
Purpose of the Study:
- To investigate the role of genetic alterations in the human caspase-9 gene in the pathogenesis of gastric, colorectal, and lung adenocarcinomas.
- To determine if somatic mutations in caspase-9 contribute to the development of these specific cancer types.
Main Methods:
- Analysis of the entire coding region and splice sites of the human caspase-9 gene.
- Detection of somatic mutations in a cohort of 353 cancer samples (180 gastric, 104 colorectal, 69 lung adenocarcinomas).
Main Results:
- Three somatic mutations in the caspase-9 gene were identified across the studied cancer types.
- All detected mutations were silent, meaning they do not alter the amino acid sequence of the protein.
- Mutations were found in 2/104 colorectal carcinomas and 1/180 gastric carcinomas.
Conclusions:
- The caspase-9 gene is infrequently mutated in gastric, colorectal, and lung adenocarcinomas.
- Caspase-9 gene mutations are unlikely to be a major driving factor in the pathogenesis of these cancers.
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