Abstract
Cells of a patient with Turcot's syndrome and of her parents were evaluated for the presence of molecular alterations in the p53 and the Ki-ras gene. Deletions on chromosome 17p, overexpression and point mutations of the p53 gene as well as mutations of the Ki-ras gene were detected in primary and metastatic tumour but not in the germline of the patient nor in her parents.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adenocarcinoma / genetics
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Adenomatous Polyposis Coli / genetics*
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Adolescent
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Astrocytoma / genetics
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Brain Neoplasms / genetics*
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Chromosome Deletion
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Chromosomes, Human, Pair 17
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Genes, p53*
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Genes, ras*
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Humans
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Liver Neoplasms / secondary
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Mutation
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Point Mutation
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Skin Neoplasms / secondary
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Syndrome