Mutational analysis of proapoptotic caspase-9 gene in common human carcinomas

• Published in: APMIS : acta pathologica, microbiologica et immunologica Scandinavica Vol. 114; no. 4; pp. 292 - 297
• Main Authors: SOUNG, YOUNG HWA, LEE, JONG WOO, KIM, SU YOUNG, PARK, WON SANG, NAM, SUK WOO, LEE, JUNG YOUNG, YOO, NAM JIN, LEE, SUG HYUNG
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.04.2006; Blackwell
• Subjects: Adenocarcinoma - enzymology; Adenocarcinoma - genetics; apoptosis; Apoptosis - genetics; Biological and medical sciences; cancer; Caspase 9; Caspases - genetics; cell death; Colonic Neoplasms - enzymology; Colonic Neoplasms - genetics; DNA Mutational Analysis; Fundamental and applied biological sciences. Psychology; Humans; Infectious diseases; Lung Neoplasms - enzymology; Lung Neoplasms - genetics; Medical sciences; Microbiology; Mutation; Stomach Neoplasms - enzymology; Stomach Neoplasms - genetics; Tumors; Human; Carcinoma; Microbiology; Enzyme; Caspase; Malignant tumor; Peptidases; Immunology; Gene; Cell death; Caspase-9; Hydrolases; cancer; Mutation; Apoptosis
• ISSN: 0903-4641; 1600-0463
• DOI: 10.1111/j.1600-0463.2006.apm_364.x

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.