A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts
| Autor: | Tore B. Halvorsen, Wenche Sjursen, Helge E. Myrvold, Lars Fredrik Engebretsen, Inga Bjørnevoll, Kristine E. Fjelland |
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| Rok vydání: | 2008 |
| Předmět: |
Cancer Research
DNA Complementary Biology medicine.disease_cause DNA Mismatch Repair Denaturing high performance liquid chromatography Central Nervous System Neoplasms Genotype Genetics medicine PMS2 Humans Genetics (clinical) Mismatch Repair Endonuclease PMS2 Adenosine Triphosphatases Mutation Splice site mutation Homozygote Microsatellite instability medicine.disease Lynch syndrome DNA-Binding Proteins DNA Repair Enzymes Adenomatous Polyposis Coli Oncology Cancer research DNA mismatch repair Colorectal Neoplasms |
| Zdroj: | Familial Cancer. 8:179-186 |
| ISSN: | 1573-7292 1389-9600 |
| DOI: | 10.1007/s10689-008-9225-5 |
| Popis: | Turcot syndrome is a rare, inherited disease predisposing of tumours in the central nerve system and in the colorectal system. This report describes a Turcot patient with an extraordinary clinical history. The patient is still alive at the age of 43. She was operated at the age of 10 by brain tumour and at the age of 16 by colorectal cancer. She has since then been treated for multiple cancers (gastrointestinal, endometrial, basal cell carcinomas), and removal of adenomatous polyps at several occasions. The aim of this work was to investigate if there was any specific genotype that explains her remarkable clinical history. Microsatellite instability and immunohistochemistry analysis for four DNA mismatch repair proteins were performed. DNA mutation analysis was done for genes involved in polyposis and mismatch repair by denaturing high performance liquid chromatography and sequencing. cDNA analysis was carried out for the mismatch repair gene PMS2. The patients genotype was found to be a homozygous splice site mutation in the PMS2 gene, c.989-1G |
| Databáze: | OpenAIRE |
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