IllnessBrain tumors, susceptibility

Summary

Short information

Comprehensive differential diagnostic panel for brain tumor susceptibility containing 7 or 17 curated genes according to the clinical signs

HP6543

Number of genes

12 Accredited laboratory test

Examined sequence length

30,7 kb (Core-/Core-canditate-Genes)
44,7 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
APC	8532	611731	NM_000038.6	AD
ATM	9171	607585	NM_000051.4	AR
MLH1	2271	120436	NM_000249.4	AD, AR, Sus
MSH2	2805	609309	NM_000251.3	AD, Sus
MSH6	4083	600678	NM_000179.3	AD, Sus
PMS2	2589	600259	NM_000535.7	Sus, AD
TP53	1182	191170	NM_000546.6	AD, Sus
NF1	8457	613113	NM_001042492.3	AD, Sus
NF2	1788	607379	NM_000268.4	AD, Sus
POT1	1905	606478	NM_015450.3	AD
PTEN	1212	601728	NM_000314.8	AR
VHL	642	608537	NM_000551.4	Sus

Informations about the disease

Clinical Comment

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.

Synonyms

Alias: Glioma: astrocytoma, glioblastoma multiforme, oligodendroglioma, ependymoma, subependymoma
Allelic: Adenomatous polyposis coli (APC)
Allelic: Ataxia-telangiectasia (ATM)
Allelic: Basal cell nevus syndrome (PTCH1)
Allelic: Breast cancer, susceptibility to (ATM)
Allelic: Cowden syndrome 1 (PTEN)
Allelic: Desmoid disease, hereditary (APC)
Allelic: Erythrocytosis, familial, 2 (VHL)
Allelic: Gardner syndrome (APC)
Allelic: Holoprosencephaly 7 (PTCH1)
Allelic: Leukemia, juvenile myelomonocytic (NF1)
Allelic: Lhermitte-Duclos syndrome (PTEN)
Allelic: Macrocephaly/autism syndrome (PTEN)
Allelic: Melanoma, cutaneous malignant, susceptibility to, 10 (POT1)
Allelic: Meningioma (PTEN)
Allelic: Pheochromocytoma (VHL)
Allelic: Prostate cancer, somatic (PTEN)
Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
Allelic: Watson syndrome (NF1)
Brain tumor-polyposis syndrome 2 (APC)
Brain, CNS + PNS cancer [panelapp] (PTCH1)
Coffin-Siris syndrome 3 (SMARCB1)
Coffin-Siris syndrome 4 (SMARCA4)
Glioma susceptibility 1 (TP53)
Glioma susceptibility 2 (PTEN)
Glioma susceptibility 9 (POT1)
Glioma, susceptibility to, somatic (IDH1)
Neurofibromatosis, familial spinal (NF1)
Neurofibromatosis, type 1 (NF1)
Neurofibromatosis, type 2 (NF2)
Neurofibromatosis-Noonan syndrome (NF1)
Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
von Hippel-Lindau syndrome (VHL)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined