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Titolo:
Infrequent frameshift mutations in the simple repeat sequences of hMLH3 inhereditary nonpolyposis colorectal cancers
Autore:
Akiyama, Y; Nagasaki, H; Nakajima, T; Sakai, H; Nomizu, T; Yuasa, Y;
Indirizzi:
Tokyo Med & Dent Univ, Grad Sch Med & Dent, Dept Mol Oncol, Bunkyo Ku, Tokyo 1138519, Japan Tokyo Med & Dent Univ Tokyo Japan 1138519 unkyo Ku, Tokyo 1138519, Japan
Titolo Testata:
JAPANESE JOURNAL OF CLINICAL ONCOLOGY
fascicolo: 2, volume: 31, anno: 2001,
pagine: 61 - 64
SICI:
0368-2811(200102)31:2<61:IFMITS>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
GERM-LINE MUTATION; MICROSATELLITE INSTABILITY; GENE; HMSH3; MLH3;
Keywords:
colorectal cancer; hMLH3; hereditary nonpolyposis colorectal cancer; microsatellite instability; simple repeat sequences;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: Yuasa, Y Tokyo Med & Dent Univ, Grad Sch Med & Dent, Dept Mol Oncol, Bunkyo Ku, 1-5-45 Yushima, Tokyo 1138519, Japan Tokyo Med & Dent Univ 1-5-45 Yushima Tokyo Japan 1138519 , Japan
Citazione:
Y. Akiyama et al., "Infrequent frameshift mutations in the simple repeat sequences of hMLH3 inhereditary nonpolyposis colorectal cancers", JPN J CLIN, 31(2), 2001, pp. 61-64

Abstract

Background: A recently identified mismatch repair gene, hMLH3, contains two simple repeat sequence regions, (A)9 and (A)8, in its coding region. To clarify the role of hMLH3 in hereditary nonpolyposis colorectal cancer (HNPCC), we searched for hMLH3 somatic and germline mutations, particularly in the repeat regions, in 41 HNPCC patient cells. Methods: We analyzed the hMLH3 (A)9 and (A)8 repeats in 27 colorectal cancers with microsatellite instability (MSI) as well as in normal cells from 41 HNPCC patients by means of polymerase chain reaction-single-strand conformation polymorphism. hMSH3 (A)8 and hMSH6 (C)8 repeats were also examined in these cancers. Results: Frameshift mutations in the hMLH3 (A)9 repeat were observed in 4/27 (14.8%) cancers with MSI, all of which showed the severe MSI phenotype. No mutations in the (A)8 repeat were found in any case. The mutation frequency of the hMLH3 (A)9 repeat was similar to that of the hMSH6 (C)8 repeat (5/26, 19.2%), but was significantly lower than that of the hMSH3 (A)8 repeat (16/27, 59.3%) (P < 0.001). All four cancers with hMLH3 mutations exhibited germline hMSH2 and/or somatic hMSH3 mutations. No germline mutation in the hMLH3 (A)9 or (A)8 repeat was detected in normal cells from the 41 HNPCCpatients. Conclusion: hMLH3 mutations were infrequently observed in HNPCC cancers with MSI and they may be secondary to other mismatch repair gene mutations. Hence hMLH3 may only play a small role in HNPCC tumorigenesis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/06/18 alle ore 17:04:34