Premium
Genetic alterations of the HCCS1 gene in Korean hepatocellular carcinoma
Author(s) -
XIAO WENHUA,
PARK CHEOL KEUN,
PARK JIK YOUNG,
LEE JONG HEUN,
KIM HONG SUG,
CHO YONG GOO,
KIM CHANG JAE,
AHN YOUNG MIN,
LEE JONG HOO,
SONG YOUNG HWA,
LEE SUG HYUNG,
YOO NAM JIN,
LEE JUNG YOUNG,
PARK WON SANG
Publication year - 2003
Publication title -
apmis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.909
H-Index - 88
eISSN - 1600-0463
pISSN - 0903-4641
DOI - 10.1034/j.1600-0463.2003.1110403.x
Subject(s) - frameshift mutation , loss of heterozygosity , biology , exon , genetics , gene , allele , hccs , microbiology and biotechnology , hepatocellular carcinoma , mutation , stop codon
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, G T G→G C G). 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.