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Titolo:
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer
Autore:
Wang, Q; Lasset, C; Desseigne, F; Saurin, JC; Maugard, C; Navarro, C; Ruano, E; Descos, L; Trillet-Lenoir, V; Bosset, JF; Puisieux, A;
Indirizzi:
Ctr Leon Berard, Dept Oncol Fondamentale & Appl, INSERM, U453, F-69008 Lyon, France Ctr Leon Berard Lyon France F-69008 , INSERM, U453, F-69008 Lyon, France Ctr Leon Berard, Dept Sante Publ, F-69373 Lyon, France Ctr Leon Berard Lyon France F-69373 ept Sante Publ, F-69373 Lyon, France Ctr Hosp Lyon Sud, Serv Hepatogastroenterol, Lyon, France Ctr Hosp Lyon Sud Lyon France d, Serv Hepatogastroenterol, Lyon, France Ctr Hosp Lyon Sud, Serv Radiotherapie Oncol, Lyon, France Ctr Hosp Lyon Sud Lyon France d, Serv Radiotherapie Oncol, Lyon, France Hop Jean Minjoz, Serv Radiotherapie Oncol, F-25030 Besancon, France Hop Jean Minjoz Besancon France F-25030 Oncol, F-25030 Besancon, France Ctr Leon Berard, Dept Med, F-69373 Lyon, France Ctr Leon Berard Lyon France F-69373 rard, Dept Med, F-69373 Lyon, France Hop Edouard Herriot, Federat Special Digest, Lyon, France Hop Edouard Herriot Lyon France t, Federat Special Digest, Lyon, France Ctr Rene Gauducheau, F-44035 Nantes, France Ctr Rene Gauducheau Nantes France F-44035 ucheau, F-44035 Nantes, France
Titolo Testata:
HUMAN GENETICS
fascicolo: 1-2, volume: 105, anno: 1999,
pagine: 79 - 85
SICI:
0340-6717(199907/08)105:1-2<79:POGMOH>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
DNA MISMATCH REPAIR; MICROSATELLITE INSTABILITY; COLON-CANCER; MSH2 MUTATIONS; FAMILIES; HNPCC; FREQUENCY; HOMOLOG; LOCUS; MLH1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Puisieux, A Ctr Leon Berard, Dept Oncol Fondamentale & Appl, INSERM, U453,28 Rue Laennec, F-69008 Lyon, France Ctr Leon Berard 28 Rue Laennec Lyon France F-69008 on, France
Citazione:
Q. Wang et al., "Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer", HUM GENET, 105(1-2), 1999, pp. 79-85

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is a syndrome characterized by familial predisposition to colorectal carcinoma and extracolonic cancers of the gastrointestinal, urological, and female reproductive tracts. This dominant disorder is caused by germline defects in one of at least fiveDNA mismatch repair (MMR) genes: hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 (GTBP). Germline mutations of hMSH2 and hMLH1 are also frequently identified in families not fulfilling all the Amsterdam criteria, thereby demonstratingthat the involvement of these genes is not confined to typical HNPCC. To evaluate the respective involvement of the various MMR genes in typical and incomplete HNPCC syndromes, we have performed an analysis of the hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in a large series of French kindreds (n =75) with colorectal tumors and/or aggregation of extracolonic cancers belonging to the HNPCC spectrum. Mutational analysis has been performed in all families, without preselection for the tumor phenotype. We have detected 26pathogenic germline mutations of the hMLH1 and hMSH2 genes and several novel variants of the hPMS1, hPMS2, and hMSH6 genes. Our data confirm that, regardless of the type of families and the tumor phenotype, hPMS1, hPMS2, andhMSH6 germline mutations are rare in familial aggregation of colorectal cancers. Furthermore, they suggest that the presence of multiple primary malignancies in a single individual and the observation of extracolonic tumors in relatives of a colorectal cancer patient should be included among the guidelines for referring patients for genetic testing.

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Documento generato il 09/04/20 alle ore 00:13:04