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Titolo:
HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER FAMILIES NOT COMPLYING WITHTHE AMSTERDAM CRITERIA SHOW EXTREMELY-LOW-FREQUENCY OF MISMATCH-REPAIR-GENE MUTATIONS
Autore:
WIJNEN J; KHAN PM; VASEN H; VANDERKLIFT H; MULDER A; VANLEEUWENCORNELISSE I; BAKKER B; LOSEKOOT M; MOLLER P; FODDE R;
Indirizzi:
LEIDEN UNIV,MGC,DEPT HUMAN GENET,SYLVIUS LABS,WASSENAARSEWEG 72,POB 9503 NL-2300 RA LEIDEN NETHERLANDS LEIDEN UNIV,MGC,DEPT HUMAN GENET,SYLVIUS LABS NL-2300 RA LEIDEN NETHERLANDS LEIDEN UNIV,FDN DETECT HEREDIT TUMORS,MED CTR LEIDEN NETHERLANDS NORWEGIAN RADIUM HOSP OSLO NORWAY
Titolo Testata:
American journal of human genetics
fascicolo: 2, volume: 61, anno: 1997,
pagine: 329 - 335
SICI:
0002-9297(1997)61:2<329:HNCFNC>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
GRADIENT-GEL-ELECTROPHORESIS; MICROSATELLITE INSTABILITY; COLON-CANCER; HOMOLOG; HNPCC; CARCINOMA; RECEPTOR; HMSH2; HMLH1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
J. Wijnen et al., "HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER FAMILIES NOT COMPLYING WITHTHE AMSTERDAM CRITERIA SHOW EXTREMELY-LOW-FREQUENCY OF MISMATCH-REPAIR-GENE MUTATIONS", American journal of human genetics, 61(2), 1997, pp. 329-335

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is a common autosomal dominant cancer-susceptibility condition characterized by early onset colorectal cancer. Germline mutations in one of four DNA mismatch repair (MMR) genes, hMSH2, hMLH1, hPMS1, or hPMS2, are known to cause HNPCC. Although many mutations in these genes have been found in HNPCC kindreds complying with the so-called Amsterdam criteria, little is known about the involvement of these genes in families not satisfying these criteria but showing clear-cut familial clustering of colorectal cancer and other cancers. Here, we applied denaturing gradient-gel electrophoresis to screen for hMSH2 and hMLH1 mutations in two sets of HNPCC families, one set comprising families strictly complying with the Amsterdam criteria and another set in which at least one of the criteria was not satisfied. Interestingly, hMSH2 and hMLH1 mutations were found in 49% of the kindreds fully complying with the Amsterdam criteria,whereas a disease-causing mutation could be identified in only 8% of the families in which the criteria were not satisfied fully. In correspondence with these findings, 4 of 6 colorectal tumors from patients belonging to kindreds meeting the criteria showed microsatellite instability, whereas only 3 of 11 tumors from the other set of families demonstrated this instability. Although the number of tumors included in the study admittedly is small, the frequencies of mutations in the MMR genes show obvious differences between the two clinical sets of families. These results also emphasize the practical importance of the Amsterdam criteria, which provide a valid clinical subdivision between families, on the basis of their chance of carrying an hMSH2 or an hMLH1 mutation, and which bear important consequences for genetic testing and counseling and for the management of colorectal cancer families.

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Documento generato il 24/11/20 alle ore 13:38:05