title: Mutational analysis of proapoptotic caspase-9 gene in common human carcinomas.
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.
authors.affiliation: Department of Pathology, College of Medicine, Catholic University of Korea, Seoul, Korea.
authors.forename: Young Hwa
authors.initials: YH
authors.lastname: Soung
authors.forename: Jong Woo
authors.initials: JW
authors.lastname: Lee
authors.forename: Su Young
authors.initials: SY
authors.lastname: Kim
authors.forename: Won Sang
authors.initials: WS
authors.lastname: Park
authors.forename: Suk Woo
authors.initials: SW
authors.lastname: Nam
authors.forename: Jung Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Nam Jin
authors.initials: NJ
authors.lastname: Yoo
authors.forename: Sug Hyung
authors.initials: SH
authors.lastname: Lee
mesh_terms: D000230:Adenocarcinoma / Q000201:enzymology / Q000235:genetics*; D017209:Apoptosis / Q000235:genetics*; D053453:Caspase 9; D020169:Caspases / Q000235:genetics*; D003110:Colonic Neoplasms / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008175:Lung Neoplasms / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D013274:Stomach Neoplasms / Q000201:enzymology / Q000235:genetics*
chemical_list: C506433:CASP9 protein, human; D053453:Caspase 9; D020169:Caspases