Introduction
Updates on Causes and Risk Factors for Brain and Other CNS Tumors in Children and Adolescents
Updates on Causes and Risk Factors for Brain and Other CNS Tumors in Adults
Chromosomal location | Gene | Associated tumor type | Mendelian associations disorder/syndrome (OMIM ID) | Single SNP associations from genome-wide association studies |
---|---|---|---|---|
2p16.3 | MSH6 | Medulloblastoma, glioma, glioblastoma, | Lynch syndrome (120435), Biallelic mismatch repair deficiency, constitutional MMR deficiency Mismatch repair deficiency syndrome (276300) | None |
2p21-p16.3 | MSH2 | Medulloblastoma, glioma, glioblastoma, | Lynch syndrome (120435), Biallelic mismatch repair deficiency, constitutional MMR deficiency Mismatch repair deficiency syndrome (276300) | None |
2q33.3 | C2orf80 | Lower grade glioma | None | rs7572263 |
2q33.3 | IDH1 | Glioma | Ollier disease | None |
3p14.1 | LRIG1 | Lower grade glioma | None | rs11706832 |
3p21.1 | BAP1 | Meningioma | BAP1 tumor predisposition syndrome (614327) | None |
3p22.2 | MLH1 | Medulloblastoma, glioma, glioblastoma, | Turcot’s syndrome type 1 Lynch syndrome (120435), Biallelic mismatch repair deficiency, constitutional MMR deficiency Mismatch repair deficiency syndrome (276300) | None |
3p25 | VHL | Hemangioblastoma | Von Hippel-Lindau syndrome (193300) | None |
3q26.2 | TERC | All glioma | None | rs1920116 |
5p13.3 | DROSHA | Pineoblastoma, pituitary blastoma | DICER1 syndrome | None |
5p15.33 | TERT | All glioma | None | rs10069690 |
Astrocytoma | None | rs2853676 | ||
5q21 | APC | Medulloblastoma, glioma | Familial adenomatous polyposis (FAP, 175100), Turcot’s syndrome type 2 | None |
7p11.2 | EGFR | All glioma | None | rs2252586 |
Glioblastoma | None | rs11979158; rs730437; rs1468727 | ||
7p22.1 | PMS2 | Medulloblastoma, glioma, glioblastoma, | Turcot’s syndrome type 1 Lynch syndrome (120435), Biallelic mismatch repair deficiency, constitutional MMR deficiency Mismatch repair deficiency syndrome (276300) | None |
8p12 | RECQL2 | Meningioma | Werner syndrome (277700) | None |
8q24.21 | CCDC26 | Lower grade glioma, in particular IDH-mutant tumors | None | rs55705857 |
9p21.3 | CDKN2A | Glioma | Melanoma-neural system tumor syndrome (155755) | None |
CDKN2B-AS1 | Lower grade glioma, in particular WHO grade II-IV astrocytic tumors | None | rs4977756 | |
9q22.3 | PTCH1 | Medulloblastoma, meningioma | Gorlin’s syndrome (nevoid basal cell carcinoma) | None |
9q34.14 | TSC1 | Giant cell astrocytoma | Tuberous sclerosis (TSC) (191100, 613254) | None |
10p12.31 | MIR4675, NEBL | Pituitary adenoma | None | rs2359536 |
MLLT10 | Meningioma | None | rs11012732 | |
10q21.1 | PCDH15 | Pituitary adenoma | None | rs10763170 |
10q23.31 | PTEN | Cerebellar gangliocytoma, meningioma | Cowden syndrome 1 (158350) | None |
10q24.32 | SUFU | Meningioma | Familial meningiomatoses (607174) | None |
10q24.33 | OBFC1 | Lower grade glioma | None | rs11598018 |
10q25.2 | VTI1A | Lower grade glioma | None | rs11599775 |
11p15.5 | RIC8A | Meningioma | None | rs2686876 |
11q13.1 | MEN1 | Pituitary prolactinoma, meningioma | Multiple endocrine neoplasia, type 1 (131100) | None |
11q13.2 | AIP | Pituitary adenomas | Pituitary adenoma predisposition (102200) | None |
11q14.1 | Intergenic | Glioblastoma | None | rs11233250 |
11q21 | MAML2 | Lower grade glioma | None | rs7107785 |
11q22.3 | ATM | Astrocytoma and medulloblastoma | Ataxia-telangiectasia (208900) | None |
11q23.2 | PHLDB1 | All glioma | None | rs648044; rs17748; rs2236661; rs494560 |
All glioma | None | rs494560 | ||
Lower grade glioma, in particular IDH-mutant gliomas | None | rs498872 | ||
12p11.23 | STK38L | All glioma | None | rs10842893 |
12q21.2 | Intergenic | Lower grade glioma | None | rs1275600 |
13q12.13 | CDK8 | Pituitary adenoma | None | rs17083838 |
13q14 | RB1 | Retinoblastoma, pineoblastoma, Malignant glioma | Retinoblastoma | None |
14q12 | AKAP6 | Lower grade glioma | None | rs10131032 |
14q32.13 | DICER1 | Pineoblastoma, pituitary blastoma | DICER1 syndrome | None |
15q21.3 | RAB27A | All glioma | None | rs4774756 |
15q24.2 | ETFA | Lower grade glioma | None | rs1801591 |
15q26.1 | IDH2 | Glioma | Ollier disease | None |
16p13.3 | CREBBP | Medulloblastoma, oligodendroglioma, and meningioma | Rubinstein-Taybi syndrome (180849) | None |
16p13.3 | RHBDF1 | Glioblastoma | None | rs2562152 |
Lower grade glioma | None | rs3751667 | ||
TSC2 | Giant cell astrocytoma | Tuberous sclerosis (TSC) (191100, 613254) | None | |
16q12.1 | HEATR3 | Glioblastoma | None | rs10852606 |
16q24.3 | FANCA | Medulloblastoma | Fanconi anemia (227650) | None |
17p13.1 | TP53 | All glioma | Li-Fraumeni syndrome (151623) | rs78378222 |
17q11.2 | NF1 | Astrocytoma, schwannomas, optic nerve glioma | Neurofibromatosis 1 (NF1) (162200) | None |
17q21.2 | SMARCE1 | Meningioma | Familial meningiomatoses (607174) | None |
17q24.2 | PRKAR1A | Pituitary adenomas | Carney complex (160980) | None |
1p31.3 | RAVER2 | Glioblastoma | None | rs12752552 |
1q32.1 | MDM4 | Lower grade glioma | None | rs4252707 |
1q44 | AKT3 | Lower grade glioma | None | rs12076373 |
20q13.33 | RTEL1 | All glioma | None | rs6010620 |
22q11.23 | SMARCB1 | Meningioma | Familial meningiomatoses (607174) | None |
22q12.1 | MN1 | Meningioma | Familial meningiomatoses (607174) | None |
22q12.2 | NF2 | Acoustic neuromas, meningiomas, Ependymoma | Neurofibromatosis 2 (NF2) (101000) | None |
22q13.1 | PDGFB | Meningioma | Familial meningiomatoses (607174) | None |
SLC16A8 | Glioblastoma | None | rs2235573 | |
22q13.2 | EP300 | Medulloblastoma, oligodendroglioma, and meningioma | Rubinstein-Taybi syndrome (180849) | None |