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Titolo:
MAJORITY OF HMLH1 MUTATIONS RESPONSIBLE FOR HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER CLUSTER AT THE EXONIC REGION 15-16
Autore:
WIJNEN J; KHAN PM; VASEN H; MENKO F; VANDERKLIFT H; VANDENBROEK M; VANLEEUWENCORNELISSE I; NAGENGAST F; MEIJERSHEIJBOER EJ; LINDHOUT D; GRIFFIOEN G; CATS A; KLEIBEUKER J; VARESCO L; BERTARIO L; BISGAARD ML; MOHR J; KOLODNER R; FODDE R;
Indirizzi:
LEIDEN UNIV,SYLVIUS LAB,CTR MED GENET,DEPT HUMAN GENET,WASSENAARSEWEG72,POB 9503 2300 RA LEIDEN NETHERLANDS LEIDEN UNIV,SYLVIUS LAB,CTR MED GENET,DEPT HUMAN GENET 2300 RA LEIDENNETHERLANDS LEIDEN UNIV,MED CTR,FDN DETECT HEREDITARY TUMORS LEIDEN NETHERLANDS LEIDEN UNIV,MED CTR,DEPT GASTROENTEROL LEIDEN NETHERLANDS FREE UNIV AMSTERDAM HOSP,DEPT CLIN GENET AMSTERDAM NETHERLANDS UNIV NIJMEGEN HOSP,DEPT GASTROENTEROL 6500 HB NIJMEGEN NETHERLANDS ERASMUS UNIV ROTTERDAM,DEPT CLIN GENET 3000 DR ROTTERDAM NETHERLANDS UNIV GRONINGEN HOSP,DEPT GASTROENTEROL GRONINGEN NETHERLANDS IST NAZL RIC CANC I-16132 GENOA ITALY UNIV MILAN,REGISTRO ITALIANO POLIPOSI FAMILIARI MILAN ITALY UNIV COPENHAGEN,PANUM INST,INST MED BIOCHEM & GENET DK-2200 COPENHAGEN DENMARK HVIDOVRE UNIV HOSP,DANISH HNPCC REGISTRY HVIDOVRE DENMARK HARVARD UNIV,SCH MED,DANA FARBER CANC INST,DIV CELLULAR & MOLEC BIOL BOSTON MA 02115
Titolo Testata:
American journal of human genetics
fascicolo: 2, volume: 58, anno: 1996,
pagine: 300 - 307
SICI:
0002-9297(1996)58:2<300:MOHMRF>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
GRADIENT GEL-ELECTROPHORESIS; SINGLE-BASE CHANGES; GENETIC INSTABILITY; COLON-CANCER; POLYPOSIS; SPECTRUM; HOMOLOG;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
J. Wijnen et al., "MAJORITY OF HMLH1 MUTATIONS RESPONSIBLE FOR HEREDITARY NONPOLYPOSIS COLORECTAL-CANCER CLUSTER AT THE EXONIC REGION 15-16", American journal of human genetics, 58(2), 1996, pp. 300-307

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is a common autosomal dominant cancer susceptibility condition. Inherited mutations in atleast four DNA mismatch repair genes, hMSH2, hMLH1, hPMS1, and hPMS2,are known to cause HNPCC. In this study we used denaturing gradient gel electrophoresis (DGGE) to screen for hMLH1 mutations in 34 unrelated HNPCC families (30 Dutch, 3 Italian, and 1 Danish). Ten novel pathogenic germ-line mutations (seven affecting splice sites, two frameshifts, and one in-frame deletion of a single amino acid) have been identified in 12 (35%) of these families. In a previous study, hMSH2 mutations were found in 21% of the same families. While the spectrum of mutations at the hMSH2 gene among HNPCC patients appears heterogeneous, a cluster of hMLH1 mutations has been found in the region encompassing exons 15 and 16, which accounts for 50% of all the independent hMLH1 mutations described to date and for >20% of the unrelated HNPCC kindreds here analyzed. This unexpected finding has a great practical value in the clinical scenario of genetic services.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 14:32:01