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

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Abstract:

Soung YH, Lee JW, Kim SY, Park WS, Nam SW, Lee JY, Yoo NJ, Lee SH.Mutational analysis of proapoptotic caspase-9 gene in common human carcinomas. APMIS 2006;114:292–7.

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.

Keywords: Caspase-9; apoptosis; cancer; cell death; mutation

Document Type: Research Article

DOI: http://dx.doi.org/10.1111/j.1600-0463.2006.apm_364.x

Affiliations: Department of Pathology, College of Medicine, Catholic University of Korea, Seoul, Korea

Publication date: April 1, 2006

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