Mutational analysis of proapoptotic caspase-9 gene in common human carcinomas.
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.
Soung
Young Hwa
YH
Department of Pathology, College of Medicine, Catholic University of Korea, Seoul, Korea.
Lee
Jong Woo
JW
Kim
Su Young
SY
Park
Won Sang
WS
Nam
Suk Woo
SW
Lee
Jung Young
JY
Yoo
Nam Jin
NJ
Lee
Sug Hyung
SH
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*
C506433:CASP9 protein, human; D053453:Caspase 9; D020169:Caspases