- Hereditary non-polyposis colorectal cancer (HNPCC) is characterised by a dominantly inherited predisposition to early onset cancer and is linked with malfunction of postreplicative DNA mismatch repair (MMR). A significant proportion of HNPCC associated mutations in the MMR genes give rise to single amino acid substitutions or in frame deletions, which are difficult to interpret.
- It can be attempted to distinguish pathogenic non-truncating mutations from polymorphisms by segregation studies. Also, the biochemical characterisation of a substitution as well as the evolutionary conservation status of a mutated sequence may give some suggestion of its pathogenicity. However, reliable assessment of pathogenicity requires a functional test.
- We describe here a novel MLH1 mutation, del GAA at codon 71, which was found in two typical HNPCC families. Since the mutation had not been reported before and the predicted coding change was a deletion of only one evolutionarily non-conserved amino acid, the pathogenicity of
. . . [Full text of this article]
Journal of Medical Genetics 2002;39:747-750; doi:10.1136/jmg.39.10.747
Copyright © 2002 by the BMJ Publishing Group Ltd.
Journal of Medical Genetics 2002;39:747-750
© 2002 Journal of Medical Genetics
© 2002 Journal of Medical Genetics
LETTER TO JMG
Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer
1 Division of Genetics, Department of Biosciences, University of Helsinki, Finland
2 Institute of Human Genetics, University of Bonn, Germany
3 Department of Medical Genetics, University of Groningen, The Netherlands
4 Department of Clinical Genetics, Groningen University Hospital, The Netherlands
Correspondence to:
Correspondence to:
Dr M Nyström-Lahti, Division of Genetics, Department of Biosciences, PO Box 56 (Viikinkaari 5), FIN-00014 University of Helsinki, Finland;
minna.nystrom-lahti@helsinki.fi
Keywords: HNPCC; MLH1; MMR
Abbreviations: HNPCC, hereditary non-polyposis colorectal cancer; MMR, mismatch repair; MSI, microsatellite instability; CRC, colorectal cancer; EC, endometrial cancer; WT, wild type
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