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TY - JOUR AU - Yao, Ya Juan AU - Ping, Xiao Li AU - Zhang, Hong AU - Chen, Fei Fei AU - Lee, Patricia K AU - Ahsan, Habibul AU - Chen, Chien-Jen AU - Lee, Po-Huang AU - Peacocke, Monica AU - Santella, Regina M AU - Tsou, Hui C PY - 1999 DA - 1999/05/01 TI - PTEN/MMAC1 mutations in hepatocellular carcinomas JO - Oncogene SP - 3181 EP - 3185 VL - 18 IS - 20 AB - 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. SN - 1476-5594 UR - https://doi.org/10.1038/sj.onc.1202659 DO - 10.1038/sj.onc.1202659 ID - Yao1999 ER -