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Titolo:
CANCER RISK IN FAMILIES WITH HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER DIAGNOSED BY MUTATION ANALYSIS
Autore:
VASEN HFA; WIJNEN JT; MENKO FH; KLEIBEUKER JH; TAAL BG; GRIFFIOEN G; NAGENGAST FM; MEIJERSHEIJBOER EH; BERTARIO L; VARESCO L; BISGAARD ML; MOHR J; FODDE R; KHAN PM;
Indirizzi:
LEIDEN UNIV HOSP,NETHERLANDS FDN DETECT HEREDITARY TUMOURS,RINJSBURGERWEG 10,BLDG 50 2333 AA LEIDEN NETHERLANDS STATE UNIV LEIDEN HOSP,DEPT GASTROENTEROL LEIDEN NETHERLANDS UNIV UTRECHT HOSP,DEPT INTERNAL MED UTRECHT NETHERLANDS LEIDEN UNIV,DEPT HUMAN GENET,CTR MED GENET 2300 RA LEIDEN NETHERLANDS FREE UNIV AMSTERDAM HOSP,DEPT CLIN GENET AMSTERDAM NETHERLANDS UNIV GRONINGEN HOSP,DEPT GASTROENTEROL GRONINGEN NETHERLANDS NETHERLANDS CANC INST,DEPT GASTROENTEROL AMSTERDAM NETHERLANDS UNIV NIJMEGEN HOSP,DEPT GASTROENTEROL 6500 HB NIJMEGEN NETHERLANDS ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET 3000 DR ROTTERDAM NETHERLANDS IST NAZL STUDIO & CURA TUMORI I-20133 MILAN ITALY IST NAZL RIC CANC,CHEM CANCEROGENESIS LAB I-16132 GENOA ITALY UNIV COPENHAGEN,NATL HOSP COPENHAGEN DENMARK DANISH HEREDITARY NONPOLYPOSIS COLORECTAL CANC RE COPENHAGEN DENMARK UNIV COPENHAGEN,PANUM INST,INST MED BIOCHEM & GENET DK-2200 COPENHAGEN DENMARK
Titolo Testata:
Gastroenterology
fascicolo: 4, volume: 110, anno: 1996,
pagine: 1020 - 1027
SICI:
0016-5085(1996)110:4<1020:CRIFWH>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
TUMOR SPECTRUM; KINDREDS; NETHERLANDS; POLYPOSIS; HOMOLOG;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
H.F.A. Vasen et al., "CANCER RISK IN FAMILIES WITH HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER DIAGNOSED BY MUTATION ANALYSIS", Gastroenterology, 110(4), 1996, pp. 1020-1027

Abstract

Background & Aims: Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers, The recent isolation of four mismatch repair genes responsible for hereditary nonpolyposis colorectal cancer allows for theidentification of carriers within affected families. The purpose of this study was to assess the age-specific cancer risk in a large seriesof gene carriers, Methods: Thirty-four families were studied by mutation analysis. In 19 of these families, pathogenic mutations were foundat hMSH2 or hMLH1. Of 382 relatives, 124 had a mutation in hMLH1 and 86 in hMSH2, Results: The lifetime risk of colorectal cancer was the same in both groups of gene carriers (80%), The risk of endometrial cancer was greater in hMSH2 gene carriers compared with hMLH1 gene carriers (61% vs. 42%), but the difference was not statistically significant. A very high relative risk of cancer of the small bowel (relative risk of >100) was observed in carriers of either gene, Only the carriers of hMSH2 mutations had a significantly increased relative risk of cancer of the urinary tract (kidney and ureter) (relative risk of 75.3), stomach (relative risk of 19.3), and ovaries (relative risk of 8.0). Conclusions: This study provides estimates of cancer risk that may contribute to the appropriate management of gene carriers within families with hereditary nonpolyposisis colorectal cancer.

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Documento generato il 28/11/20 alle ore 09:20:05