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Titolo:
Analysis of the PTEN gene mutation in polyposis syndromes and sporadic gastrointestinal tumors in Japanese patients
Autore:
Negoro, K; Takahashi, S; Kinouchi, Y; Takagi, S; Hiwatashi, N; Ichinohasama, R; Shimosegawa, T; Toyota, T;
Indirizzi:
Tohoku Univ, Sch Med, Dept Internal Med 3, Aoba Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ Sendai Miyagi Japan 9808574 Ku, Sendai, Miyagi 9808574, Japan Tohoku Univ, Sch Dent, Dept Oral Pathol, Sendai, Miyagi 980, Japan Tohoku Univ Sendai Miyagi Japan 980 ral Pathol, Sendai, Miyagi 980, Japan
Titolo Testata:
DISEASES OF THE COLON & RECTUM
fascicolo: 10, volume: 43, anno: 2000, supplemento:, S
pagine: S29 - S33
SICI:
0012-3706(200010)43:10<S29:AOTPGM>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
JUVENILE POLYPOSIS; GERMLINE MUTATIONS; COWDEN-DISEASE; PROSTATE-CANCER; MMAC1/PTEN GENE; SUPPRESSOR GENE; PTEN/MMAC1; BREAST; FREQUENT; MALIGNANCIES;
Keywords:
PTEN; Cowden disease; gingival papilloma; esophageal papilloma; juvenile polyp;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
34
Recensione:
Indirizzi per estratti:
Indirizzo: Negoro, K Tohoku Univ, Sch Med, Dept Internal Med 3, Aoba Ku, 1-1 Seiryo Machi, Sendai, Miyagi 9808574, Japan Tohoku Univ 1-1 Seiryo Machi Sendai Miyagi Japan 9808574 , Japan
Citazione:
K. Negoro et al., "Analysis of the PTEN gene mutation in polyposis syndromes and sporadic gastrointestinal tumors in Japanese patients", DIS COL REC, 43(10), 2000, pp. S29-S33

Abstract

PURPOSE: PTEN is a candidate tumor suppressor gene for mutations which areresponsible for Cowden disease. Recently, it has been shown that PTEN is mutated in several human neoplasms. To investigate the role of PTEN in tumorigenesis, we screened its mutation in Japanese patients with gastrointestinal polyposis and various sporadic tumors. METHODS: The entire coding regionof PTEN was screened by single strand conformational polymorphism or direct sequencing for somatic mutations in 16 gingival papillomas, 4 juvenile polyps, 10 esophageal papillomas, and 20 colorectal cancers and for germline mutations in three patients with Cowden disease (including one with Lhermitte-Duclos disease) and one patient each with juvenile polyposis syndrome, Turcot's syndrome, and Cronkhite-Canada syndrome. RESULTS: Germline mutations were found in all cases of Cowden disease. One mutation was a nonsense mutation at codon 130 (CGA-->TGA), and the other two were splice site mutations at the 5' site of intron 4 and the 3' site of intron 8. We could not detect germline mutations in other patients with gastrointestinal polyposis orsomatic mutations in sporadic tumors. CONCLUSIONS: We con firmed previous reports that germline mutations in PTEN are responsible for Cowden disease. However, somatic mutations of PTEN may not play a major role in tumorigenesis, at least in colorectal cancers, esophageal papillomas and gingival papillomas.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 11:05:28