title: Genetic alterations of the HCCS1 gene in Korean hepatocellular carcinoma.
abstract: We analyzed the gene mutations and loss of heterozygosity (LOH) of the HCCS1 gene using intragenic polymorphic markers in a series of 88 primary HCCs. We found two sequence variations at exon 5 and 14 in both normal and tumor DNAs of case 50 and 51, respectively. The variation in case 50 led to a reading frameshift and a premature stop (TGA) at codon 125 and case 51 showed amino acid change at codon 448 (Val-->Ala, GTG-->GCG). Interestingly, these variations were not found in peripheral lymphocytes of 69 normal individuals and 227 cancer patients (86 HCC, 75 unselected gastric cancer, and 66 breast cancer), suggesting that these two variations are mutation, not polymorphism. In addition, we found 14 novel intragenic polymorphic sites in the HCCS1 gene. Thirty-two (47%) of sixty-eight informative cases showed allelic loss at at least one or more intragenic polymorphic sites, but there was no significant relationship between the frequency of LOH and clinicopathologic parameters. These results suggest that mutation of the HCCS1 gene might not be a main inactivation mechanism in the development of Korean HCC and that the HCCS1 gene might be involved in acceleration of the tumorigenic process in Korean HCC.
authors.affiliation: Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Seocho-gu, Seoul, Korea.
authors.forename: Wenhua
authors.initials: W
authors.lastname: Xiao
authors.forename: Cheol Keun
authors.initials: CK
authors.lastname: Park
authors.forename: Jik Young
authors.initials: JY
authors.lastname: Park
authors.forename: Jong Heun
authors.initials: JH
authors.lastname: Lee
authors.forename: Hong Sug
authors.initials: HS
authors.lastname: Kim
authors.forename: Yong Goo
authors.initials: YG
authors.lastname: Cho
authors.forename: Chang Jae
authors.initials: CJ
authors.lastname: Kim
authors.forename: Young Min
authors.initials: YM
authors.lastname: Ahn
authors.forename: Jong Hoo
authors.initials: JH
authors.lastname: Lee
authors.forename: Young Hwa
authors.initials: YH
authors.lastname: Song
authors.forename: Sug Hyung
authors.initials: SH
authors.lastname: Lee
authors.forename: Nam Jin
authors.initials: NJ
authors.lastname: Yoo
authors.forename: Jung Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Won Sang
authors.initials: WS
authors.lastname: Park
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D006528:Carcinoma, Hepatocellular / Q000235:genetics*; D004273:DNA, Neoplasm / Q000096:biosynthesis / Q000235:genetics; D005260:Female; D016147:Genes, Tumor Suppressor / Q000502:physiology*; D006801:Humans; D007723:Korea; D008113:Liver Neoplasms / Q000235:genetics*; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D025521:Tumor Suppressor Proteins; D033921:Vesicular Transport Proteins
chemical_list: D004273:DNA, Neoplasm; D025521:Tumor Suppressor Proteins; C503307:VPS53 protein, human; D033921:Vesicular Transport Proteins