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Titolo:
CLINICAL FINDINGS WITH IMPLICATIONS FOR GENETIC TESTING IN FAMILIES WITH CLUSTERING OF COLORECTAL-CANCER
Autore:
WIJNEN JT; VASEN HFA; KHAN PM; ZWINDERMAN AH; VANDERKLIFT H; MULDER A; TOPS C; MOLLER P; FODDE R; MENKO F; TAAL B; NAGENGAST F; BRUNNER H; KLEIBEUKER J; SIJMONS R; GRIFFIOEN G; BROCKERVRIENDS A; BAKKER E; VANLEEUWENCORNELISSE I; MEIJERSHEIJBOER A; LINDHOUT D; BREUNING M; POST J; SCHAAP C; APOLD J; HEIMDAL K; BERTARIO L; BISGAARD ML; GOETZ P;
Indirizzi:
FDN DETECT HEREDITARY TUMORS,RIJNSBURGERWEG 10,POORTGEBOUW ZUID NL-2333 AA LEIDEN NETHERLANDS FDN DETECT HEREDITARY TUMORS NL-2333 AA LEIDEN NETHERLANDS LEIDEN UNIV,MED CTR,DEPT HUMAN GENET LEIDEN NETHERLANDS LEIDEN UNIV,MED CTR,DEPT GASTROENTEROL LEIDEN NETHERLANDS LEIDEN UNIV,MED CTR,DEPT MED STAT LEIDEN NETHERLANDS LEIDEN UNIV,MED CTR,CLIN GENET CTR LEIDEN NETHERLANDS NORWEGIAN RADIUM HOSP,UNIT MED GENET OSLO NORWAY VRIJE UNIV AMSTERDAM,UNIV HOSP AMSTERDAM NETHERLANDS NETHERLANDS CANC INST AMSTERDAM NETHERLANDS UNIV NIJMEGEN HOSP NL-6500 HB NIJMEGEN NETHERLANDS UNIV GRONINGEN HOSP GRONINGEN NETHERLANDS ERASMUS UNIV ROTTERDAM NETHERLANDS CLIN GENET CTR NL-3501 CA UTRECHT NETHERLANDS CLIN GENET CTR MAASTRICHT NETHERLANDS HAUKELAND UNIV HOSP N-5021 BERGEN NORWAY NORWEGIAN RADIUM HOSP OSLO NORWAY IST NAZL TUMORI I-20133 MILAN ITALY UNIV COPENHAGEN,HVIDOVRE HOSP,DANISH HEREDITARY NONPOLYPOSIS COLORECTAL CANC RE DK-2650 HVIDOVRE DENMARK CHARLES UNIV PRAGUE CZECH REPUBLIC
Titolo Testata:
The New England journal of medicine
fascicolo: 8, volume: 339, anno: 1998,
pagine: 511 - 518
SICI:
0028-4793(1998)339:8<511:CFWIFG>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
GRADIENT-GEL-ELECTROPHORESIS; MICROSATELLITE INSTABILITY; COLON-CANCER; MUTATION ANALYSIS; APC GENE; HNPCC; POLYPOSIS; MAJORITY; RECEPTOR; HOMOLOG;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
38
Recensione:
Indirizzi per estratti:
Citazione:
J.T. Wijnen et al., "CLINICAL FINDINGS WITH IMPLICATIONS FOR GENETIC TESTING IN FAMILIES WITH CLUSTERING OF COLORECTAL-CANCER", The New England journal of medicine, 339(8), 1998, pp. 511-518

Abstract

Background Germ-line mutations in DNA mismatch-repair genes (MSH2, MLH1, PIMS1, PMS2, and MSH6) cause susceptibility to hereditary nonpolyposis colorectal cancer. We assessed the prevalence of MSH2 and MLH1 mutations in families suspected of having hereditary nonpolyposis colorectal cancer and evaluated whether clinical findings can predict the outcome of genetic testing. Methods We used denaturing gradient gel electrophoresis to identify MSH2 and MLH1 mutations in 184 kindreds with familiar clustering of colorectal cancer or other cancers associated with hereditary nonpolyposis colorectal cancer. Information on the site of cancer, the age at diagnosis, and the number of affected family members was obtained from all families. Results Mutations of MSH2 or MLH1were found in 47 of the 184 kindreds (26 percent). Clinical factors associated with these mutations were early age at diagnosis of colorectal cancer, the occurrence in the kindred of endometrial cancer or tumors of the small intestine, a higher number of family members with colorectal or endometrial cancer, the presence of multiple colorectal cancers or both colorectal and endometrial cancers in a single family member, and fulfillment of the Amsterdam criteria for the diagnosis of hereditary nonpolyposis colorectal cancer (at least three family members in two or more successive generations must have colorectal cancer, oneof whom is a first-degree relative of the other two; cancer must be diagnosed before the age of 50 in at least one family member; and familial adenomatous polyposis must be ruled out). Multivariate analysis showed that a younger age at diagnosis of colorectal cancer, fulfillmentof the Amsterdam criteria, and the presence of endometrial cancer in the kindred were independent predictors of germ-line mutations of MSH2or MLH1. These results were used to devise a logistic model for estimating the likelihood of a mutation in MSH2 and MLH1. Conclusions Assessment of clinical findings can improve the rate of detection of mutations of DNA mismatch-repair genes in families suspected of having hereditary nonpolyposis colorectal cancer. (N Engl J Med 1998;339:511-8. ) (C)1998, Massachusetts Medical Society.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 12:34:23