Literature DB >> 8072530

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.

N C Nicolaides1, N Papadopoulos, B Liu, Y F Wei, K C Carter, S M Ruben, C A Rosen, W A Haseltine, R D Fleischmann, C M Fraser.   

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is one of man's commonest hereditary diseases. Several studies have implicated a defect in DNA mismatch repair in the pathogenesis of this disease. In particular, hMSH2 and hMLH1 homologues of the bacterial DNA mismatch repair genes mutS and mutL, respectively, were shown to be mutated in a subset of HNPCC cases. Here we report the nucleotide sequence, chromosome localization and mutational analysis of hPMS1 and hPMS2, two additional homologues of the prokaryotic mutL gene. Both hPMS1 and hPMS2 were found to be mutated in the germline of HNPCC patients. This doubles the number of genes implicated in HNPCC and may help explain the relatively high incidence of this disease.

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Year:  1994        PMID： 8072530     DOI： 10.1038/371075a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


  312 in total

1.  A Uve1p-mediated mismatch repair pathway in Schizosaccharomyces pombe.

Authors:  B Kaur; J L Fraser; G A Freyer; S Davey; P W Doetsch
Journal:  Mol Cell Biol       Date:  1999-07       Impact factor: 4.272

Review 2.  DNA mismatch repair genes and colorectal cancer.

Authors:  J M Wheeler; W F Bodmer; N J Mortensen
Journal:  Gut       Date:  2000-07       Impact factor: 23.059

3.  Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.

Authors:  R J Scott; M McPhillips; C J Meldrum; P E Fitzgerald; K Adams; A D Spigelman; D du Sart; K Tucker; J Kirk
Journal:  Am J Hum Genet       Date:  2000-12-07       Impact factor: 11.025

4.  Analysis of the frequency of microsatellite instability and p53 gene mutation in splenic marginal zone and MALT lymphomas.

Authors:  M Sol Mateo; M Mollejo; R Villuendas; P Algara; M Sánchez-Beato; B Martinez-Delgado; P Martínez; M A Piris
Journal:  Mol Pathol       Date:  1998-10

5.  Isolation and characterization of point mutations in mismatch repair genes that destabilize microsatellites in yeast.

Authors:  E A Sia; M Dominska; L Stefanovic; T D Petes
Journal:  Mol Cell Biol       Date:  2001-12       Impact factor: 4.272

6.  hMutSalpha forms an ATP-dependent complex with hMutLalpha and hMutLbeta on DNA.

Authors:  Guido Plotz; Jochen Raedle; Angela Brieger; Jörg Trojan; Stefan Zeuzem
Journal:  Nucleic Acids Res       Date:  2002-02-01       Impact factor: 16.971

7.  Relationship between grade of microsatellite instability and target genes of mismatch repair pathways in sporadic colorectal carcinoma.

Authors:  G Togo; Y Shiratori; M Okamoto; Y Yamaji; M Matsumura; T Sano; T Motojima; M Omata
Journal:  Dig Dis Sci       Date:  2001-08       Impact factor: 3.199

8.  An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1.

Authors:  P Hutter; J Wijnen; C Rey-Berthod; I Thiffault; P Verkuijlen; D Farber; N Hamel; B Bapat; S N Thibodeau; J Burn; J Wu; E MacNamara; K Heinimann; G Chong; W D Foulkes
Journal:  J Med Genet       Date:  2002-05       Impact factor: 6.318

9.  hMLH1 promoter hypermethylation in microsatellite instability-positive endometrial carcinoma. Cause or consequence?

Authors:  L H Ellenson
Journal:  Am J Pathol       Date:  1999-11       Impact factor: 4.307

10.  Interaction of mismatch repair protein PMS2 and the p53-related transcription factor p73 in apoptosis response to cisplatin.

Authors:  Hideki Shimodaira; Atsuko Yoshioka-Yamashita; Richard D Kolodner; Jean Y J Wang
Journal:  Proc Natl Acad Sci U S A       Date:  2003-02-24       Impact factor: 11.205
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