Brain Neoplasm — Genomics

Brain Neoplasm — Genomics · CancerIndex

Genomics

Gene alteration frequencies by cohort

7 cohorts mapped to this entity or its descendants. Each frequency is affected / profiled within one cohort; cohorts are shown separately because case selection, sequencing depth and definitions differ. By default the cohort with the most cases profiled is shown.

Medulloblastoma (Broad, Nature 2012) mbl_broad_2012Broad

92 cases with simple somatic mutation data · 92 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	KMT2D

Cohorts mapped to a descendant (e.g. a subtype) are included because their cases belong to this entity by definition; the mapping and its match type are shown per cohort.

Medulloblastoma (DKFZ, Nature 2017) mbl_dkfz_2017DKFZ

491 cases with simple somatic mutation data · 491 cases total · 2026-01-16 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	PTCH1	Ssm	51	491	10.4%	cbioportal
2	TERT	Ssm	50	491	10.2%	cbioportal
3	DDX3X	Ssm	43	491	8.8%	cbioportal
4	KMT2D	Ssm	34	491	6.9%	cbioportal
5	CTNNB1	Ssm	32	491	6.5%	cbioportal
6	KMT2C	Ssm	29	491	5.9%	cbioportal
7	SMARCA4	Ssm	25	491	5.1%	cbioportal
8	TTN	Ssm	23	491	4.7%	cbioportal
9	KBTBD4	Ssm	19	491	3.9%	cbioportal
10	KDM6A	Ssm	17	491	3.5%	cbioportal
11	MUC16	Ssm	17	491	3.5%	cbioportal
12	TP53	Ssm	17	491	3.5%	cbioportal
13	CREBBP	Ssm	15	491	3.1%	cbioportal
14	ZMYM3	Ssm	14	491	2.9%	cbioportal
15	SMO	Ssm	13	491	2.6%	cbioportal
16	TCF4	Ssm	12	491	2.4%	cbioportal
17	ZIC1	Ssm	12	491	2.4%	cbioportal
18	CDK1	Ssm	11	491	2.2%	cbioportal
19	NIN	Ssm	11	491	2.2%	cbioportal
20	NME5	Ssm	11	491	2.2%	cbioportal
21	FBXW7	Ssm	10	491	2%	cbioportal
22	GSE1	Ssm	10	491	2%	cbioportal
23	LAMA2	Ssm	10	491	2%	cbioportal
24	RSBN1L	Ssm	10	491	2%	cbioportal
25	CTDNEP1	Ssm	9	491	1.8%	cbioportal
26	PIK3CA	Ssm	9	491	1.8%	cbioportal
27	BCOR	Ssm	8	491	1.6%	cbioportal
28	MUC17	Ssm	8	491	1.6%	cbioportal
29	RYR3	Ssm	8	491	1.6%	cbioportal
30	ARID1A	Ssm	7	491	1.4%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Medulloblastoma (ICGC, Nature 2012) mbl_icgcICGC

125 cases with simple somatic mutation data · 125 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CTNNB1	Ssm	15	125	12%	cbioportal
2	DDX3X	Ssm	10	125	8%	cbioportal
3	PTCH1	Ssm	8	125	6.4%	cbioportal
4	KMT2D	Ssm	6	125	4.8%	cbioportal
5	SMARCA4	Ssm	6	125	4.8%	cbioportal
6	KDM6A	Ssm	5	125	4%	cbioportal
7	TP53	Ssm	5	125	4%	cbioportal
8	CTDNEP1	Ssm	4	125	3.2%	cbioportal
9	CEP83	Ssm	3	125	2.4%	cbioportal
10	CUBN	Ssm	3	125	2.4%	cbioportal
11	FRAS1	Ssm	3	125	2.4%	cbioportal
12	KMT2C	Ssm	3	125	2.4%	cbioportal
13	NF1	Ssm	3	125	2.4%	cbioportal
14	TLN2	Ssm	3	125	2.4%	cbioportal
15	TRPC3	Ssm	3	125	2.4%	cbioportal
16	ABCA4	Ssm	2	125	1.6%	cbioportal
17	AKAP11	Ssm	2	125	1.6%	cbioportal
18	ALPK2	Ssm	2	125	1.6%	cbioportal
19	ANGEL2	Ssm	2	125	1.6%	cbioportal
20	AOC3	Ssm	2	125	1.6%	cbioportal
21	ARID1B	Ssm	2	125	1.6%	cbioportal
22	BCLAF1	Ssm	2	125	1.6%	cbioportal
23	BCOR	Ssm	2	125	1.6%	cbioportal
24	CBFA2T2	Ssm	2	125	1.6%	cbioportal
25	CCAR1	Ssm	2	125	1.6%	cbioportal
26	CDH10	Ssm	2	125	1.6%	cbioportal
27	CLCN2	Ssm	2	125	1.6%	cbioportal
28	CLDN24	Ssm	2	125	1.6%	cbioportal
29	CPAMD8	Ssm	2	125	1.6%	cbioportal
30	DLG5	Ssm	2	125	1.6%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Medulloblastoma (PCGP, Nature 2012) mbl_pcgpPCGP

37 cases with simple somatic mutation data · 37 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CTNNB1	Ssm	4	37	10.8%	cbioportal
2	DDX3X	Ssm	4	37	10.8%	cbioportal
3	CHD7	Ssm	3	37	8.1%	cbioportal
4	KDM6A	Ssm	3	37	8.1%	cbioportal
5	TTN	Ssm	3	37	8.1%	cbioportal
16	WDFY3	Ssm	2	37	5.4%	cbioportal
6	CACNA1D	Ssm	2	37	5.4%	cbioportal
7	DEPDC5	Ssm	2	37	5.4%	cbioportal
8	DNAH14	Ssm	2	37	5.4%	cbioportal
9	DYNC1H1	Ssm	2	37	5.4%	cbioportal
10	FAP	Ssm	2	37	5.4%	cbioportal
11	FCRL2	Ssm	2	37	5.4%	cbioportal
12	GPAM	Ssm	2	37	5.4%	cbioportal
13	IFIT3	Ssm	2	37	5.4%	cbioportal
14	PFKP	Ssm	2	37	5.4%	cbioportal
15	SF3B1	Ssm	2	37	5.4%	cbioportal
17	WDFY4	Ssm	2	37	5.4%	cbioportal
18	ZMYM3	Ssm	2	37	5.4%	cbioportal
19	ABCA4	Ssm	1	37	2.7%	cbioportal
20	ABCB9	Ssm	1	37	2.7%	cbioportal
101	DCTN1	Ssm	1	37	2.7%	cbioportal
21	ABCG2	Ssm	1	37	2.7%	cbioportal
22	ABI3BP	Ssm	1	37	2.7%	cbioportal
23	ACAN	Ssm	1	37	2.7%	cbioportal
24	ADAMTS20	Ssm	1	37	2.7%	cbioportal
25	ADGRB3	Ssm	1	37	2.7%	cbioportal
26	AGGF1	Ssm	1	37	2.7%	cbioportal
27	AKAP9	Ssm	1	37	2.7%	cbioportal
28	AKR1B10	Ssm	1	37	2.7%	cbioportal
29	ALDH1L1	Ssm	1	37	2.7%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Medulloblastoma (Sickkids, Nature 2016) mbl_sickkids_2016Sickkids

46 cases with simple somatic mutation data · 46 cases total · 2026-01-07 · mapped to Medulloblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TTN	Ssm	9	46	19.6%	cbioportal
2	MUC4	Ssm	7	46	15.2%	cbioportal
3	TP53	Ssm	6	46	13%	cbioportal
6	MUC6	Ssm	5	46	10.9%	cbioportal
7	TG	Ssm	5	46	10.9%	cbioportal
5	MUC16	Ssm	5	46	10.9%	cbioportal
4	CREBBP	Ssm	5	46	10.9%	cbioportal
8	VWA5B2	Ssm	5	46	10.9%	cbioportal
18	VEPH1	Ssm	4	46	8.7%	cbioportal
16	RYR3	Ssm	4	46	8.7%	cbioportal
17	USH2A	Ssm	4	46	8.7%	cbioportal
10	ALAS1	Ssm	4	46	8.7%	cbioportal
11	FBXW7	Ssm	4	46	8.7%	cbioportal
9	ABCA13	Ssm	4	46	8.7%	cbioportal
12	FRAS1	Ssm	4	46	8.7%	cbioportal
13	KMT2D	Ssm	4	46	8.7%	cbioportal
14	MUC2	Ssm	4	46	8.7%	cbioportal
15	PTCH1	Ssm	4	46	8.7%	cbioportal
31	DNAH11	Ssm	3	46	6.5%	cbioportal
30	DMBT1	Ssm	3	46	6.5%	cbioportal
32	DNAH5	Ssm	3	46	6.5%	cbioportal
33	DYNC1H1	Ssm	3	46	6.5%	cbioportal
34	EP400	Ssm	3	46	6.5%	cbioportal
35	JPH1	Ssm	3	46	6.5%	cbioportal
36	KIAA1614	Ssm	3	46	6.5%	cbioportal
37	KNL1	Ssm	3	46	6.5%	cbioportal
38	LAMC1	Ssm	3	46	6.5%	cbioportal
39	MED12	Ssm	3	46	6.5%	cbioportal
40	MICAL2	Ssm	3	46	6.5%	cbioportal
41	MKI67	Ssm	3	46	6.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-07

Pituitary Adenoma (MSK, 2026) ptad_msk_2026MSK

62 cases with simple somatic mutation data · 62 cases total · 2026-08-24 · mapped to Pituitary Neuroendocrine Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
106	MYO10	Ssm	2	2	100%	cbioportal
125	RAX2	Ssm	2	2	100%	cbioportal
73	COL16A1	Ssm	2	2	100%	cbioportal
112	OR51I2	Ssm	2	2	100%	cbioportal
131	SH3TC1	Ssm	2	2	100%	cbioportal
113	OR5A2	Ssm	2	2	100%	cbioportal
118	PPP1R12B	Ssm	2	2	100%	cbioportal
146	UAP1	Ssm	2	2	100%	cbioportal
144	TRMT6	Ssm	2	2	100%	cbioportal
148	ZNF235	Ssm	2	2	100%	cbioportal
134	SNUPN	Ssm	2	2	100%	cbioportal
182	CTSC	Ssm	1	2	50%	cbioportal
150	ADK	Ssm	1	2	50%	cbioportal
149	ABI3BP	Ssm	1	2	50%	cbioportal
176	CLVS2	Ssm	1	2	50%	cbioportal
1	TP53	Ssm	22	62	35.5%	cbioportal
2	ATRX	Ssm	10	62	16.1%	cbioportal
8	USP8	Ssm	5	41	12.2%	cbioportal
3	KMT2C	Ssm	7	62	11.3%	cbioportal
4	DAXX	Ssm	6	62	9.7%	cbioportal
5	APC	Ssm	5	62	8.1%	cbioportal
7	SPEN	Ssm	5	62	8.1%	cbioportal
6	MSH6	Ssm	5	62	8.1%	cbioportal
20	TSC2	Ssm	4	62	6.5%	cbioportal
9	ANKRD11	Ssm	4	62	6.5%	cbioportal
10	ARID2	Ssm	4	62	6.5%	cbioportal
11	EPHB1	Ssm	4	62	6.5%	cbioportal
12	JAK1	Ssm	4	62	6.5%	cbioportal
17	PIK3CD	Ssm	4	62	6.5%	cbioportal
19	TERT	Ssm	4	62	6.5%	cbioportal

Data updated 22 days agoSource updated 2026-08-24

Pituitary Adenoma (MSK, Acta Neuropathologica 2024) ptad_msk_2024MSK

104 cases with simple somatic mutation data · 104 cases total · 2026-01-16 · mapped to Pituitary Neuroendocrine Tumor EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	TP53	Ssm	15	104	14.4%	cbioportal
125	USP8	Ssm	2	15	13.3%	cbioportal
114	SMARCA2	Ssm	2	15	13.3%	cbioportal
128	ARHGAP35	Ssm	1	15	6.7%	cbioportal
197	KLF5	Ssm	1	15	6.7%	cbioportal
155	CTR9	Ssm	1	15	6.7%	cbioportal
2	KMT2C	Ssm	6	104	5.8%	cbioportal
7	KMT2D	Ssm	5	104	4.8%	cbioportal
6	GNAS	Ssm	5	104	4.8%	cbioportal
5	DAXX	Ssm	5	104	4.8%	cbioportal
4	ATRX	Ssm	5	104	4.8%	cbioportal
3	ANKRD11	Ssm	5	104	4.8%	cbioportal
8	SPEN	Ssm	5	104	4.8%	cbioportal
15	MGA	Ssm	4	104	3.8%	cbioportal
10	ASXL1	Ssm	4	104	3.8%	cbioportal
11	EPHB1	Ssm	4	104	3.8%	cbioportal
12	JAK1	Ssm	4	104	3.8%	cbioportal
13	KDM6A	Ssm	4	104	3.8%	cbioportal
14	MEN1	Ssm	4	104	3.8%	cbioportal
20	TSC2	Ssm	4	104	3.8%	cbioportal
19	TBX3	Ssm	4	104	3.8%	cbioportal
18	PIK3CD	Ssm	4	104	3.8%	cbioportal
17	NSD1	Ssm	4	104	3.8%	cbioportal
16	MSH6	Ssm	4	104	3.8%	cbioportal
9	APC	Ssm	4	104	3.8%	cbioportal
42	WWTR1	Ssm	3	101	3%	cbioportal
30	INPPL1	Ssm	3	101	3%	cbioportal
28	CSDE1	Ssm	3	101	3%	cbioportal
39	PRKD1	Ssm	3	101	3%	cbioportal
41	TP53BP1	Ssm	3	101	3%	cbioportal

Data updated 22 days agoSource updated 2026-01-16