title: Mutational analysis of CASP10 gene in colon, breast, lung and hepatocellular carcinomas.
abstract: OBJECTIVE
  Evasion of apoptosis is a feature of cancer cells. As a mechanism of apoptosis inactivation in cancer cells, somatic mutations of pro-apoptotic genes have been reported in many cancers. Caspase-10 is an initiation-phase caspase, and somatic mutation of CASP10 that encodes caspase-10 has been found in non-Hodgkin's lymphoma and gastric carcinoma.
  
  
  METHODS
  The aim of this study was to explore whether CASP10 gene is somatically mutated in colon, breast, lung, and hepatocellular carcinomas. We analysed the entire coding region and all splice sites of CASP10 in 47 colon, 47 breast, 47 lung, and 47 hepatocellular carcinomas by a single-strand conformation polymorphism (SSCP) assay.
  
  
  RESULTS
  We found two CASP10 mutations in the colon cancers (2/47; 4.3%), but none in breast, lung or hepatocellular carcinomas. One mutation [c.41A > C (p.Lys14Thr)] was a missense mutation, while the other was a substitution mutation in a splice site (c.684 + 4G > A). The colon cancer with the CASP10 missense mutation harboured additional CASP gene mutations (CASP3, 7 and 8).
  
  
  CONCLUSIONS
  Our data indicate that somatic mutation of CASP10 is rare in colon, breast, lung, and hepatocellular carcinomas. However, the data also suggest that CASP10 mutation might contribute to the pathogenesis of some colon carcinomas together with other CASP gene mutations.
authors.affiliation: Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors.forename: Ji Eun
authors.initials: JE
authors.lastname: Oh
authors.forename: Min Sung
authors.initials: MS
authors.lastname: Kim
authors.forename: Chang Hyeok
authors.initials: CH
authors.lastname: Ahn
authors.forename: Sung Soo
authors.initials: SS
authors.lastname: Kim
authors.forename: Ji Youn
authors.initials: JY
authors.lastname: Han
authors.forename: Sug Hyung
authors.initials: SH
authors.lastname: Lee
authors.forename: Nam Jin
authors.initials: NJ
authors.lastname: Yoo
mesh_terms: D000230:Adenocarcinoma / Q000145:classification / Q000235:genetics / Q000473:pathology; D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D006528:Carcinoma, Hepatocellular / Q000145:classification / Q000235:genetics / Q000473:pathology; D053455:Caspase 10 / Q000235:genetics*; D003110:Colonic Neoplasms / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D006801:Humans; D008113:Liver Neoplasms / Q000145:classification / Q000235:genetics* / Q000473:pathology; D008175:Lung Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009367:Neoplasm Staging; D018807:Polymorphism, Single-Stranded Conformational / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm; D053455:Caspase 10; C506438:CASP10 protein, human