IllnessGlioma, susceptibility

NGS +

[Sanger]

Gliomas are CNS neoplasms derived from glial cells comprising astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, subependymomas. Glial cells can show various degrees of differentiation even within the same tumor. Ependymomas are rare glial tumors of the brain and spinal cord. Subependymomas are unusual tumors believed to arise from bipotential subependymal cells, which normally differentiate into either ependymal cells or astrocytes. Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome, melanoma-astrocytoma syndrome, neurofibromatosis-1 + -2, tuberous sclerosis. Familial clustering of gliomas may occur in the absence of these tumor syndromes. Genetic susceptibility to glioma development is also heterogenous.

• Alias: Glioma: astrocytoma, glioblastoma multiforme, oligodendroglioma, ependymoma, subependymoma
• Allelic: Adenomatous polyposis coli (APC)
• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Ataxia-telangiectasia (ATM)
• Allelic: Basal cell carcinoma 7 (TP53)
• Allelic: Breast cancer, susceptibility to (ATM)
• Allelic: Breast cancer, susceptibility to (CHEK2)
• Allelic: Choroid plexus papilloma (TP53)
• Allelic: Colorectal cancer (TP53)
• Allelic: Colorectal cancer, susceptibility to (CHEK2)
• Allelic: Desmoid disease, hereditary (APC)
• Allelic: Failure of tooth eruption, primary (PTHR1)
• Allelic: Gardner syndrome (APC)
• Allelic: Leukemia, juvenile myelomonocytic (NF1)
• Allelic: Li-Fraumeni syndrome (TP53)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Melanoma, cutaneous malignant, 2 (CDKN2A)
• Allelic: Melanoma-pancreatic cancer syndrome (CDKN2A)
• Allelic: Prostate cancer, familial, susceptibility to (CHEK2)
• Bone marrow failure syndrome 5 (TP53)
• Brain tumor-polyposis syndrome 2 (APC)
• Chondrodysplasia, Blomstrand type (PTHR1)
• D-2-hydroxyglutaric aciduria 2 (IDH2)
• Eiken syndrome (PTHR1)
• Glioblastoma 3 (BRCA2)
• Glioblastoma, somatic (ERBB2)
• Glioma susceptibility 1 (TP53)
• Glioma susceptibility 2 (PTEN)
• Glioma susceptibility 9 (POT1)
• Li-Fraumeni syndrome (TP53)
• Li-Fraumeni syndrome 2 (CHEK2)
• Melanoma + neural system tumor syndrome (CDKN2A)
• Metaphyseal chondrodysplasia, Murk Jansen type (PTHR1)
• Neurofibromatosis, familial spinal (NF1)
• Neurofibromatosis, type 1 (NF1)
• Neurofibromatosis, type 2 (NF2)
• Neurofibromatosis-Noonan syndrome (NF1)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)