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Brain and CNS Cancer


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Brain tumors are divided into primary tumors starting in the brain, or secondary known as metastasis tumors that spread from somewhere else in the body.

Different hereditory factors increase the risk of brain cancer respectively cancer of the central and peripheral nervous systems.

On this page you will find a list of NGS panels that target different genes associated with higher risk of developing brain or CNS cancer. 

For more detailed information about the targeted genes please contact the corresponding NGS panel provider. 

More general information about brain cancer are available here.


Brain / CNS Cancer

Brain, CNS, and PNS Cancer: Sequencing Panel

Approximately 5% of primary brain cancers have known hereditary factors. Specifically, Li-Fraumeni syndrome, p53 defects, neurofibromatosis, tuberous sclerosis, von Hippel-Lindau disease, Turcot's syndrome, and familial polyposis increase the risk of brain tumors.
Targeted genes: (16) ALK, APC, ATM, MEN1, MLH1, MSH2, MSH6, NBN, NF2, PALB2, PHOX2B, PMS2, PTCH1, SUFU, TP53, VHL
Source: Emory Genetics Laboratory

Central Nervous System Hereditary Cancer Panel

Sequencing and Deletion/Duplication, 15 Genes
Source: Arup Laboratories

CNS Tumor Gene Set

Targeted genes: AKT1, ATRX, BRAF, CDKN2A, CIC, CTNNB1, EGFR, FUBP1, IDH1, IDH2, KRAS, MYC, NF1, NOTCH1, PDGFRA, PTCH1, PTEN, SHH, SMO, SUFU, TERT, TP53, WNT1 and WT1
Source: WUSTL

Invitae Nervous System/Brain Cancer Panel

The Invitae Nervous System/Brain Cancer Panel analyzes up to 39 genes that are associated with an increased lifetime risk of developing cancers of the central and peripheral nervous systems. These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive hereditary nervous system cancers panel. Many of these genes are also associated with an increased risk of other cancer types.
In addition to the primary panel, clinicians can also choose to include seven genes that have limited evidence of association with cancers of the central and peripheral nervous systems.
Source: Invitae


Paragangliomas (PGLs) & Pheochromocytomas (PCCs)

Invitae Hereditary Paraganglioma-Pheochromocytoma Panel

The Invitae Hereditary Paraganglioma-Pheochromocytoma Panel analyzes up to 14 genes that are associated with an increased risk for hereditary paraganglioma-pheochromocytoma syndrome (PGL/PCC). Individuals with pathogenic variants in these genes have an increased risk for paragangliomas and/or pheochromocytomas, which may or may not be malignant. Some of the genes on this panel are also associated with gastrointestinal stromal tumors (GIST); they may be related to other cancers as well.
Source: Invitae

PGLNEXT

PGLNext is a next generation sequencing (NGS) panel that simultaneously analyzes 12 genes associated with an increased risk of developing paragangliomas (PGLs) and/or pheochromocytomas (PCCs).
Ambry utilizes NGS to offer a comprehensive hereditary PGL/PCC panel. Genes on this panel include FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL. Full gene sequencing and gross deletion/duplication analysis is performed for all 12 genes.
Source: Ambry Genetics


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