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Titolo:
Mutations of the human PTEN gene
Autore:
Bonneau, D; Longy, M;
Indirizzi:
Univ Poitiers, Dept Med Genet, Poitiers, France Univ Poitiers Poitiers France oitiers, Dept Med Genet, Poitiers, France Bergonie Inst, Mol Genet Lab, Bordeaux, France Bergonie Inst Bordeaux France nie Inst, Mol Genet Lab, Bordeaux, France
Titolo Testata:
HUMAN MUTATION
fascicolo: 2, volume: 16, anno: 2000,
pagine: 109 - 122
SICI:
1059-7794(2000)16:2<109:MOTHPG>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
TUMOR-SUPPRESSOR GENE; RILEY-RUVALCABA-SYNDROME; BANNAYAN-ZONANA-SYNDROME; GENOTYPE-PHENOTYPE CORRELATIONS; LHERMITTE-DUCLOS-DISEASE; COWDEN-DISEASE; PTEN/MMAC1 GENE; ENDOMETRIAL CANCERS; JUVENILE POLYPOSIS; GERMLINE MUTATIONS;
Keywords:
PTEN; tumor suppressor; Cowden disease; CD; Bannayan-Riley-Ruvalcaba syndrome; BRR; somatic mutations; germline mutations;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
91
Recensione:
Indirizzi per estratti:
Indirizzo: Bonneau, D CHU Poitiers, Serv Genet Med, BP 577, F-86021 Poitiers, France CHU Poitiers BP 577 Poitiers France F-86021 1 Poitiers, France
Citazione:
D. Bonneau e M. Longy, "Mutations of the human PTEN gene", HUM MUTAT, 16(2), 2000, pp. 109-122

Abstract

PTEN (phosphatase and tensin homolog deleted on chromosome ten), a recently discovered tumor suppressor gene, appears to negatively control the phosphoinositide 3-kinase signaling path way for regulation of cell proliferation and cell survival by dephosphorylating the phosphatidylinositol 3,4,5-triphosphate. To date, 110 germline PTEN mutations have been reported in patients affected with two tumor predisposing syndromes, each having overlappingclinical features: Cowden disease and Bannayan-Riley-Ruvalcaba syndrome. These germline mutations are scattered along the length of the gene, with the exception of exon 9 (no mutation reported) and exon 1 (only two mutationsreported). A mutational hot spot is found in exon 5, which encodes the phosphatase catalytic core motif, and recurrent mutations are also found at CpG dinucleotides suggesting deamination-induced mutations. PTEN has also been found to be defective in a large number of sporadic human tumors. In thisarticle, 332 somatic point mutations of PTEN, occurring in primary tumors or metastasis, have been reviewed. Somatic PTEN mutations are more particularly involved in two types of human cancers: endometrial carcinomas and glioblastomas, In most cases, these somatic mutations result in protein inactivation and, as with germline mutations, recurrent somatic mutations are found in CpG dinucleotides. A mutagenesis by insertion-deletion in repetitive elements is however specifically observed in endometrial carcinomas. Hum Mutat 16:109-122, 2000. (C) 2000 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 15:10:54