Article
The hPMS2 exon 5 mutation and malignant glioma. Case report.
Journal of neurosurgery - 1 May 1999
Taylor M D, Perry J, Zlatescu M C, Stemmer-Rachamimov A O, Ang L C, Ino Y, Schwartz M, Becker L E, Louis D N, Cairncross J G
Abstract excerpt
Patients with Turcot syndrome (TS) are predisposed to colon tumors and primary brain tumors, typically glioblastomas or medulloblastomas. The authors describe a patient with TS featuring a known germline mutation of exon 5 of the hPMS2 mismatch repair gene who developed two metachronous glioblastomas, both with distinct oligodendroglial features. Molecular genetic analysis revealed allelic loss of chromosome 19q...
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