Abstract
Turcot syndrome (TS), a rare variant of hereditary non-polyposis colorectal cancer (HNPCC), is characterized by familial clustering of cancer of the large bowel, extracolonic body sites and brain. It is caused by germline mutations in genes encoding for components of the DNA mismatch repair system. We report a 72 year old woman with anaplastic oligoastrocytoma in the setting of TS. Careful analysis of tumor DNA is required to exclude the chance occurrence of a brain tumor in HNPCC kindreds and increase our understanding of the pathogenesis of the disease. Our case adds to the handful of cases published with detailed molecular data previously.
MeSH terms
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Adaptor Proteins, Signal Transducing / genetics
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Adaptor Proteins, Signal Transducing / metabolism
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Adenosine Triphosphatases / genetics
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Adenosine Triphosphatases / metabolism
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Aged
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Astrocytoma / complications*
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Astrocytoma / metabolism
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Astrocytoma / pathology
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Colorectal Neoplasms, Hereditary Nonpolyposis / complications*
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Colorectal Neoplasms, Hereditary Nonpolyposis / metabolism
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Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
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DNA Repair Enzymes / genetics
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DNA Repair Enzymes / metabolism
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DNA, Neoplasm / genetics
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DNA-Binding Proteins / genetics
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DNA-Binding Proteins / metabolism
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Female
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Humans
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Immunoenzyme Techniques
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Magnetic Resonance Imaging
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Mismatch Repair Endonuclease PMS2
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MutL Protein Homolog 1
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MutS Homolog 2 Protein / genetics
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Nuclear Proteins / genetics
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Nuclear Proteins / metabolism
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Pedigree
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Polymerase Chain Reaction
Substances
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Adaptor Proteins, Signal Transducing
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DNA, Neoplasm
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DNA-Binding Proteins
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G-T mismatch-binding protein
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MLH1 protein, human
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Nuclear Proteins
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Adenosine Triphosphatases
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PMS2 protein, human
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MSH2 protein, human
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Mismatch Repair Endonuclease PMS2
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MutL Protein Homolog 1
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MutS Homolog 2 Protein
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DNA Repair Enzymes