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Science 7 May 1993: Vol. 260. no. 5109, pp. 812 - 816 DOI: 10.1126/science.8484121
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Articles
Science, Vol 260, Issue 5109, 812-816
Copyright © 1993 by American Association for the Advancement of Science
Clues to the pathogenesis of familial colorectal cancer
LA Aaltonen,
P Peltomaki,
FS Leach,
P Sistonen,
L Pylkkanen,
JP Mecklin,
H Jarvinen,
SM Powell,
J Jen,
Hamilton SR,
and
al. et
Department of Medical Genetics, University of Helsinki, Finland.
A predisposition to colorectal cancer is shown to be linked to markers on chromosome 2 in some families. Molecular features of "familial" cancers were compared with those of sporadic colon cancers. Neither the familial nor sporadic cancers showed loss of heterozygosity for chromosome 2 markers, and the incidence of mutations in KRAS, P53, and APC was similar in the two groups of tumors. Most of the familial cancers, however, had widespread alterations in short repeated DNA sequences, suggesting that numerous replication errors had occurred during tumor development. Thirteen percent of sporadic cancers had identical abnormalities and these cancers shared biologic properties with the familial cases. These data suggest a mechanism for familial tumorigenesis different from that mediated by classic tumor suppressor genes.
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- Loss of MSH3 Protein Expression Is Frequent in MLH1-Deficient Colorectal Cancer and Is Associated with Disease Progression1.
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Cancer Res.
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- The Oxidized Deoxynucleoside Triphosphate Pool Is a Significant Contributor to Genetic Instability in Mismatch Repair-Deficient Cells.
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Mol. Cell. Biol.
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- Aetiology of colorectal cancer and relevance of monogenic inheritance.
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Gut
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- Toward New Strategies to Select Young Endometrial Cancer Patients for Mismatch Repair Gene Mutation Analysis.
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J. Clin. Oncol.
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- Deletion in a (T)8 microsatellite abrogates expression regulation by 3'-UTR.
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Nucleic Acids Res.
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- Unfavorable Prognostic Factors Associated with High Frequency of Microsatellite Instability and Comparative Genomic Hybridization Analysis in Endometrial Cancer.
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Clin. Cancer Res.
9, 5675-5682
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- Dietary Factors and Microsatellite Instability in Sporadic Colon Carcinomas.
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Cancer Epidemiol. Biomarkers Prev.
12, 1130-1136
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- Artificial Intelligence in Predicting Bladder Cancer Outcome: A Comparison of Neuro-Fuzzy Modeling and Artificial Neural Networks.
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Clin. Cancer Res.
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- Automated, Multiplex Assay for High-Frequency Microsatellite Instability in Colorectal Cancer.
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J. Clin. Oncol.
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- Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome.
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J. Med. Genet.
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- Tumor Microsatellite-Instability Status as a Predictor of Benefit from Fluorouracil-Based Adjuvant Chemotherapy for Colon Cancer.
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N. Engl. J. Med.
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- A Specific Genetic Alteration on Chromosome 6 in Ulcerative Colitis-associated Colorectal Cancers.
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Cancer Res.
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- Mutations of the Birt-Hogg-Dube (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability.
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- Genetic testing for polyposis: practical and ethical aspects.
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Gut
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- Amplification of repeat-containing transcribed sequences (ARTS): a transcriptome fingerprinting strategy to detect functionally relevant microsatellite mutations in cancer.
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- Incidence of Microsatellite Instability in Synchronous Tumors of the Ovary and Endometrium.
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- Hereditary Colorectal Cancer.
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- Interaction of mismatch repair protein PMS2 and the p53-related transcription factor p73 in apoptosis response to cisplatin.
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PNAS
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- Cigarette smoking and genetic alterations in sporadic colon carcinomas.
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Carcinogenesis
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- Genetic Tumor Markers With Prognostic Impact in Dukes' Stages B and C Colorectal Cancer Patients.
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- High Incidence of Microsatellite Instability in Colorectal Cancer from African Americans.
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Clin. Cancer Res.
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- Msh2 deficiency enhances somatic Apc and p53 mutations in Apc+/-Msh2-/- mice.
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Carcinogenesis
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- A novel case with germline p53 gene mutation having concurrent multiple primary colon tumours.
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Gut
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