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Titolo:
Mutational spectra of PTEN/MMAC1 gene: a tumor suppressor with lipid phosphatase activity
Autore:
Ali, IU; Schriml, LM; Dean, M;
Indirizzi:
NCI, Div Canc Prevent, Bethesda, MD 20892 USA NCI Bethesda MD USA 20892NCI, Div Canc Prevent, Bethesda, MD 20892 USA NCI, Lab Genom Divers, Frederick Canc Res & Dev Ctr, Frederick, MD 21701 USA NCI Frederick MD USA 21701 ck Canc Res & Dev Ctr, Frederick, MD 21701 USA
Titolo Testata:
JOURNAL OF THE NATIONAL CANCER INSTITUTE
fascicolo: 22, volume: 91, anno: 1999,
pagine: 1922 - 1932
Fonte:
ISI
Lingua:
ENG
Soggetto:
RILEY-RUVALCABA-SYNDROME; GERMLINE PTEN MUTATION; BANNAYAN-ZONANA-SYNDROME; COWDEN-DISEASE; JUVENILE POLYPOSIS; ENDOMETRIAL CANCERS; PROSTATE-CANCER; MICROSATELLITE INSTABILITY; GLIOMA-CELLS; GLIOBLASTOMA-MULTIFORME;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
120
Recensione:
Indirizzi per estratti:
Indirizzo: Ali, IU NIH, Execut Plaza N,Rm 201, Bethesda, MD 20892 USA NIH Execut Plaza N,Rm 201 Bethesda MD USA 20892 esda, MD 20892 USA
Citazione:
I.U. Ali et al., "Mutational spectra of PTEN/MMAC1 gene: a tumor suppressor with lipid phosphatase activity", J NAT CANC, 91(22), 1999, pp. 1922-1932

Abstract

PTEN/MMAC1 (phosphatase, tensin homologue/mutated in multiple advanced cancers) is a tumor suppressor protein that has sequence homology with dual-specificity phosphatases, which ave capable of dephosphorylating both tyrosine phosphate and serine/threonine phosphate residues on proteins, The in vivo function of PTEN/MMAC1 appears to be dephosphorylation of phosphotidylinositol 3,4,5-triphosphate, The PTEN/MMAC1. gene is mutated in the germline! of patients with rare autosomal dominant cancer syndromes and in subsets ofspecific cancers. Here we review the mutational spectra of the PTEN/MMAC1 gene in tumors from various tissues, especially endometrium, brain, prostate, and ovary, in which the gene is inactivated very frequently, Germline and somatic mutations in the PTEN/MMAC1 gene occur mostly in the protein coding region and involve the phosphatase domain and poly(A)(6) stretches. Compared with germline alterations found in the PTEN/MMAC1 gene, there is a substantially increased frequency of frameshift mutations in tumors. Glioblastomas and endometrial carcinomas appear to have, distinct mutational spectra, probably reflecting differences in the underlying mechanisms of inactivation of the PTEN/MMAC1 gene in the two tissue types. Also, depending on the tissue type, the gene appears to be involved in the initiation or the progression of cancers. Further understanding of PTEN/MMAC1 gene mutations in different tumors and the physiologic consequences of these mutations is likely to open up new therapeutic opportunities for targeting this critical gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 14:40:30