Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer

Background: Hereditary non-polyposis colorectal cancer (HNPCC) is clinically defined by familial clustering of colorectal cancer and other associated tumours. Methods: By thorough molecular and clinical evaluation of 41 families, two different groups were characterised: group 1, 25 families with tru...

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Bibliographic Details
Published in:Gut 2005-12, Vol.54 (12), p.1733-1740
Main Authors: Mueller-Koch, Y, Vogelsang, H, Kopp, R, Lohse, P, Keller, G, Aust, D, Muders, M, Gross, M, Daum, J, Schiemann, U, Grabowski, M, Scholz, M, Kerker, B, Becker, I, Henke, G, Holinski-Feder, E
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing
Adult
Age
Age of Onset
Carrier Proteins - genetics
Carrier Proteins - metabolism
CGH
chromosomal instability
CIN
Colleges & universities
Colorectal Cancer
Colorectal Neoplasms, Hereditary Nonpolyposis - classification
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
Colorectal Neoplasms, Hereditary Nonpolyposis - metabolism
Colorectal Neoplasms, Hereditary Nonpolyposis - pathology
comparative genomic hybridisation
Counseling
Data collection
denaturing high performance liquid chromatography
Deoxyribonucleic acid
DHPLC
Disease Progression
DNA
Female
Gene expression
hereditary non-polyposis colorectal cancer
high microsatellite instability
HNPCC
Humans
Laboratories
Localization
Male
microsatellite instability
Microsatellite Repeats - genetics
Middle Aged
MSI
MSI-H
Mutation
MutL Protein Homolog 1
MutS Homolog 2 Protein - genetics
MutS Homolog 2 Protein - metabolism
Neoplasm Proteins - genetics
Neoplasm Proteins - metabolism
Neoplastic Syndromes, Hereditary - genetics
Neoplastic Syndromes, Hereditary - metabolism
Nuclear Proteins - genetics
Nuclear Proteins - metabolism
Nucleic Acid Hybridization
Pathology
Patients
PCR
Pedigree
polymerase chain reaction
Population Surveillance
Surveillance
Tumors
Citations: Items that cite this one
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Summary:Background: Hereditary non-polyposis colorectal cancer (HNPCC) is clinically defined by familial clustering of colorectal cancer and other associated tumours. Methods: By thorough molecular and clinical evaluation of 41 families, two different groups were characterised: group 1, 25 families with truncating mutations in MLH1 or MSH2 (12 novel mutations); and group 2, 16 Amsterdam positive families without mutations in these genes and without microsatellite instability in their corresponding tumours. Results: Significant clinical differences between these two groups were found. Firstly, earlier age of onset for all colorectal cancers (median 41 v 55 years; p
ISSN:0017-5749
1468-3288
1458-3288
DOI:10.1136/gut.2004.060905