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Titolo:
Identification of PTEN mutations in five families with Bannayan-Zonana syndrome
Autore:
Celebi, JT; Chen, FF; Zhang, H; Ping, XL; Tsou, HC; Peacocke, M;
Indirizzi:
Columbia,Univ, Presbyterian Hosp, Coll Phys & Surg, Dept Dermatol, New York Columbia Univ New York NY USA 10032 Phys & Surg, Dept Dermatol, New York
Titolo Testata:
EXPERIMENTAL DERMATOLOGY
fascicolo: 2, volume: 8, anno: 1999,
pagine: 134 - 139
SICI:
0906-6705(199904)8:2<134:IOPMIF>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
RILEY-RUVALCABA-SYNDROME; LHERMITTE-DUCLOS DISEASE; COWDEN-DISEASE; GERMLINE MUTATIONS; BREAST-CANCER; MULTIPLE HAMARTOMA; GENE; PHENOTYPE; POLYPOSIS; RISK;
Keywords:
Bannayan-Zonana syndrome; Cowden syndrome; PTEN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Peacocke, M Columbia8thiv, Presbyterian Hosp, Coll Phys & Surg, Dept Dermatol, 630 W 16 Columbia Univ 630 W 168th St,VC-1526 New York NY USA 10032 16
Citazione:
J.T. Celebi et al., "Identification of PTEN mutations in five families with Bannayan-Zonana syndrome", EXP DERMATO, 8(2), 1999, pp. 134-139

Abstract

Germline mutations in PTEN, a putative tumor suppressor gene, has been identified in 2 autosomal dominant inherited hamartoma syndromes, Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS). While both diseases exhibit distinct phenotypic features, there seems to be a partial clinical overlap between the 2 diseases. To date, 9 families with BZS have been screened for PTEN mutations, of which 5 were found to exhibit mutations in this gene. We report 5 novel germline mutations in the PTEN coding sequence from 5 unrelated families with the BZS phenotype. While all the mutations we identified are novel in BZS, 1003C-->T (nonsense mutation) and 209+5G-->A (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte-Duclos disease. Interestingly, 1 of the families has an individual with BZS and 1 with CS phenotype, associated with a single PTEN mutation, 885insA. These data support the notion that CS and BZS may be within the spectrum of the same primary disorder.

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Documento generato il 19/09/20 alle ore 13:19:18