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Titolo:
PTEN/MMAC1 mutations in hepatocellular carcinomas
Autore:
Yao, YJ; Ping, XL; Zhang, H; Chen, FF; Lee, PK; Ahsan, H; Chen, CJ; Lee, PH; Pleacocke, M; Santella, RM; Tsou, HC;
Indirizzi:
Columbia10032 Coll Phys & Surg, Sch Publ Hlth, Dept Dermatol, New York, NYColumbia Univ Coll Phys & Surg New York NY USA 10032 rmatol, New York, NY Columbiaork,v Coll Phys & Surg, Sch Publ Hlth, Div Environm Hlth Sci, New Y Columbia Univ Coll Phys & Surg New York NY USA 10032 ronm Hlth Sci, New Y Columbia10032 Coll Phys & Surg, Sch Publ Hlth, Div Epidemiol, New York, NYColumbia Univ Coll Phys & Surg New York NY USA 10032 demiol, New York, NY Natl Taiwan Univ, Coll Publ Hlth, Inst Epidemiol, Taipei 10764, Taiwan Natl Taiwan Univ Taipei Taiwan 10764 nst Epidemiol, Taipei 10764, Taiwan Natl Taiwan Univ, Coll Publ Hlth, Dept Surg, Taipei 10764, Taiwan Natl Taiwan Univ Taipei Taiwan 10764 th, Dept Surg, Taipei 10764, Taiwan
Titolo Testata:
ONCOGENE
fascicolo: 20, volume: 18, anno: 1999,
pagine: 3181 - 3185
SICI:
0950-9232(19990520)18:20<3181:PMIHC>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
BANNAYAN-ZONANA-SYNDROME; TUMOR-SUPPRESSOR GENE; HEPATITIS-B VIRUS; COWDEN-DISEASE; GERMLINE MUTATIONS; AFLATOXIN EXPOSURE; PROSTATE-CANCER; P53 MUTATIONS; BREAST-CANCER; HUMAN LIVER;
Keywords:
PTEN/MMAC1; mutation; liver; tumor;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Tsou, HC Columbia Presbyterian Hosp, Dept Dermatol, 630 W 168th St,VC1526,New York, Columbia Presbyterian Hosp 630 W 168th St,VC1526 New York NY USA10032
Citazione:
Y.J. Yao et al., "PTEN/MMAC1 mutations in hepatocellular carcinomas", ONCOGENE, 18(20), 1999, pp. 3181-3185

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 leadingcancer in males and third leading cancer in females, for mutations in the PTEN/MMAC1 gene. Complete sequence analysis of these samples demonstrated amissense 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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Documento generato il 25/11/20 alle ore 04:02:35