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Titolo:
Genetic heterogeneity in familial juvenile polyposis
Autore:
Huang, SC; Chen, CR; Lavine, JE; Taylor, SF; Newbury, RO; Pham, TTT; Ricciardiello, L; Carethers, JM;
Indirizzi:
Univ Calif San Diego, Dept Pediat, Div Gastroenterol & Nutr, La Jolla, CA 92093 USA Univ Calif San Diego La Jolla CA USA 92093 & Nutr, La Jolla, CA 92093 USA Univ Calif San Diego, Dept Med, Div Gastroenterol, La Jolla, CA 92093 USA Univ Calif San Diego La Jolla CA USA 92093 nterol, La Jolla, CA 92093 USA Univ Calif San Diego, Ctr Canc, La Jolla, CA 92093 USA Univ Calif San Diego La Jolla CA USA 92093 r Canc, La Jolla, CA 92093 USA Childrens Hosp, Dept Pathol, San Diego, CA 92123 USA Childrens Hosp San Diego CA USA 92123 ept Pathol, San Diego, CA 92123 USA Vet Adm Med Ctr, Res Serv, San Diego, CA 92161 USA Vet Adm Med Ctr San Diego CA USA 92161 Res Serv, San Diego, CA 92161 USA
Titolo Testata:
CANCER RESEARCH
fascicolo: 24, volume: 60, anno: 2000,
pagine: 6882 - 6885
SICI:
0008-5472(200012)60:24<6882:GHIFJP>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
RILEY-RUVALCABA-SYNDROME; GERM-LINE MUTATIONS; COWDEN-DISEASE; TUMOR-SUPPRESSOR; PTEN MUTATION; CANCER; COLI; LOCALIZATION; PTEN/MMAC1; LOCUS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Carethers, JM Vet Adm San Diego Healthcare Syst, Gi Sect, 9-111D,3350 La Jolla Village Dr, San Diego, CA 92161 USA Vet Adm San Diego Healthcare Syst 9-111D,3350 La Jolla Village Dr San Diego CA USA 92161
Citazione:
S.C. Huang et al., "Genetic heterogeneity in familial juvenile polyposis", CANCER RES, 60(24), 2000, pp. 6882-6885

Abstract

Juvenile polyposis syndrome (JPS) Is an autosomal dominant syndrome characterized by multiple gastrointestinal hamartomatous polyps in the absence ofthe extraintestinal features that are classic for other hamartomatous polyposis syndromes, such as Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden disease (CD), About 50% of ERRS and > 80% of CD demonstrate germ-line mutations in the tumor suppressor and dual phosphatase, PTEN, Germ-line mutation of PTEN as a cause for JPS in a child is controversial because extraintestinal manifestations that would exclude JPS could appear after adolescence, altering the clinical diagnosis, Here, we investigated a family in which the 55-year-old father, who lacks thyroid or skin findings characteristic of CD, demonstrated a germ-line mutation in PTEN that was passed to identical twin daughters, who both manifested JPS, The mutation was a deletion of five bases beginning seven bases from the start of exon 4 of PTEN, which caused aberrant transcripts by reverse transcription-PCR that were absent froma normal individual. Thus, mutations in PTEN are associated with JPS in addition to CD and some ERRS families, although the incidence of PTEN germ-line mutations in JPS might be more rare than that reported for SMAD4, a genefound to be mutated in approximately one-half of the JPS families investigated.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/09/20 alle ore 03:44:08