PTEN/MMAC1 mutations in hepatocellular carcinomas

YJ Yao, XL Ping, H Zhang, FF Chen, PK Lee, H Ahsan… - Oncogene, 1999 - nature.com
YJ Yao, XL Ping, H Zhang, FF Chen, PK Lee, H Ahsan, CJ Chen, PH Lee, M Peacocke…
Oncogene, 1999nature.com
Mutations in the PTEN/MMAC1 gene have been identified in several types of human
cancers and cancer cell lines, including brain, endometrial, prostate, breast, thyroid, and
melanoma. In this study, we screened a total of 96 hepatocellular carcinoma (HCC) samples
from Taiwan, where HCC is the leading cancer in males and third leading cancer in females,
for mutations in the PTEN/MMAC1 gene. Complete sequence analysis of these samples
demonstrated a missense mutation in exon 5 (K144I) and exon 7 (V255A) from HCC …
Abstract
Mutations in the PTEN/MMAC1 gene have been identified in several types of human cancers and cancer cell lines, including brain, endometrial, prostate, breast, thyroid, and melanoma. In this study, we screened a total of 96 hepatocellular carcinoma (HCC) samples from Taiwan, where HCC is the leading cancer in males and third leading cancer in females, for mutations in the PTEN/MMAC1 gene. Complete sequence analysis of these samples demonstrated a missense mutation in exon 5 (K144I) and exon 7 (V255A) from HCC samples B6-21 and B6-2, respectively. A putative splice site mutation was also detected in intron 3 from sample B6-2. Both B6-21 and B6-2 were previously shown to contain missense mutations in the coding sequences of the p53 gene. Functional studies with the two missense mutations demonstrated that while mutation V255A in exon 7 resulted in a loss of phosphatase activity, mutation K144I in exon 5 retained its phosphatase activity. Additionally, we identified a silent mutation (P96P) in exon 5 of the PTEN/MMAC1 gene from HCC sample B6-22. These data provide the first evidence that the PTEN/MMAC1 gene is mutated in a subset of HCC samples.
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