Molecular alterations in a patient with Turcot's syndrome

C F Rochlitz; I Heide; E de Kant; A Neubauer; C A Schmidt; P Neuhaus; D Huhn; R Herrmann

doi:10.1038/bjc.1993.379

Molecular alterations in a patient with Turcot's syndrome

Br J Cancer. 1993 Sep;68(3):519-23. doi: 10.1038/bjc.1993.379.

Authors

C F Rochlitz¹, I Heide, E de Kant, A Neubauer, C A Schmidt, P Neuhaus, D Huhn, R Herrmann

Affiliation

¹ Department Innere Medizin, Kantonsspital Basel.

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

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adenocarcinoma / genetics
Adenomatous Polyposis Coli / genetics*
Adolescent
Astrocytoma / genetics
Brain Neoplasms / genetics*
Chromosome Deletion
Chromosomes, Human, Pair 17
Genes, p53*
Genes, ras*
Humans
Liver Neoplasms / secondary
Mutation
Point Mutation
Skin Neoplasms / secondary
Syndrome