Chromosome 22 | Cancer Genetics Web

Genes Linked with Cancer (45)

How to use this data table Click on the gene name for detailed information. Type in the Search box e.g. 'germline' or 'Breast Cancer' to search within Chromosome 22; or Sort by clicking on a column heading e.g. 'Gene'.

Gene	Location	Aliases	Abnormalities	Implicated in
CRKL	22q11.21		Somatic	-Chronic Myelogenous Leukemia -Lung Cancer
DGCR8	22q11.21	Gy1, pasha, DGCRK6, C22orf12		-Bladder Cancer -Breast Cancer -Cervical Cancer -Esophageal Cancer -Ewing's Sarcoma -Liver Cancer -Prostate Cancer -Skin Cancer -Wilms Tumour
CLTCL1	22q11.21	CLTD, CHC22, CLH22, CLTCL	Somatic
SEPT5	22q11.21	H5, CDCREL, PNUTL1, CDCREL1, CDCREL-1, HCDCREL-1	Somatic	-Acute Myeloid Leukaemia -Breast Cancer -Chronic Myelogenous Leukemia -Esophageal Cancer -Haematological Malignancies
BID	22q11.21	FP497
COMT	22q11.21	HEL-S-98n		-Bladder Cancer -Breast Cancer -Prostate Cancer -Stomach Cancer
MAPK1	22q11.22	ERK, p38, p40, p41, ERK2, ERT1, ERK-2, MAPK2, PRKM1, PRKM2, P42MAPK, p41mapk, p42-MAPK		-Bladder Cancer -Cervical Cancer -Eye Cancer -Salivary Gland Cancer -Skin Cancer -Stomach Cancer -Thyroid Cancer -Uterine Sarcoma
IGL	22q11.22	IGL@, IGLC6	Somatic	-Chronic Lymphocytic Leukemia -Lymphoma -Multiple Myeloma -Non-Hodgkin Lymphoma
PRAME	22q11.22	MAPE, OIP4, CT130, OIP-4		-Acute Lymphocytic Leukaemia (ALL) -Acute Myeloid Leukaemia -Breast Cancer -Chronic Lymphocytic Leukemia -Chronic Myelogenous Leukemia -Leukaemia -Melanoma -Skin Cancer
MIF	22q11.23	GIF, GLIF, MMIF		-Brain Tumours, Childhood -Breast Cancer -Lung Cancer -Lung Cancer, Non-Small Cell -Neuroblastoma -Prostate Cancer -Soft Tissue Sarcoma -Stomach Cancer
MMP11	22q11.23	ST3, SL-3, STMY3	Overexpression	Many cancer types including: -Breast Cancer -Esophageal Cancer -Lung Cancer -Skin Cancer -Uterine Sarcoma
GSTT2	22q11.23
GSTT1	22q11.23			-Breast Cancer -Colorectal Cancer -Head and Neck Cancers -Liver Cancer -Lung Cancer -Melanoma -Oral Cavity Cancer -Squamous Cell Carcinoma - Skin -Testicular Cancer -Thyroid Cancer
SMARCB1	22q11.23	RDT, CSS3, INI1, SNF5, Snr1, BAF47, MRD15, RTPS1, Sfh1p, hSNFS, SNF5L1, SWNTS1, PPP1R144	Germline & Somatic	-Brain Tumours, Childhood -Kidney Cancer -Neurofibromatosis -Rhabdoid Tumours -Skin Cancer -Soft Tissue Sarcoma -Wilms Tumour
BCR	22q11.23	ALL, CML, PHL, BCR1, D22S11, D22S662	Somatic Translocation	-Acute Lymphocytic Leukaemia (ALL) -Acute Myeloid Leukaemia -Breast Cancer -Chronic Myelogenous Leukemia -Ewing's Sarcoma -Leukaemia
CHEK2	22q12.1	CDS1, CHK2, LFS2, RAD53, hCds1, HuCds1, PP1425	Germline	-Breast Cancer -Colorectal Cancer -Osteosarcoma -Ovarian Cancer -Prostate Cancer -Thyroid Cancer
XBP1	22q12.1	XBP2, TREB5, XBP-1, TREB-5		-Breast Cancer -Liver Cancer -Multiple Myeloma
ZNRF3	22q12.1	RNF203, BK747E2.3		-Adrenocortical Cancer -Lung Cancer -Stomach Cancer
MN1	22q12.1	MGCR, MGCR1, MGCR1-PEN, dJ353E16.2	Somatic	-Acute Myeloid Leukaemia -Leukaemia
LIF	22q12.2	CDF, DIA, HILDA, MLPLI		-Breast Cancer -Ewing's Sarcoma
PATZ1	22q12.2	ZSG, MAZR, PATZ, RIAZ, ZBTB19, ZNF278, dJ400N23	Somatic	-Bone Cancer (primary) -Breast Cancer -Ewing's Sarcoma -Lung Cancer -Ovarian Cancer -Soft Tissue Sarcoma
EWSR1	22q12.2	EWS, EWS-FLI1, bK984G1.4	Somatic Translocation	-Bladder Cancer -Bone Cancer (primary) -Chondrosarcoma -DSRC -Ewing's Sarcoma -Salivary Gland Cancer -Skin Cancer -Soft Tissue Sarcoma -Uterine Sarcoma -Vulvar Cancer
NF2	22q12.2	ACN, SCH, BANF	Germline & Somatic	-Acoustic Neuroma -Brain Tumours, Childhood -Mesothelioma -Neurofibromatosis -Rhabdoid Tumours -Skin Cancer
IL2RB	22q12.3	CD122, IL15RB, P70-75		-Colorectal Cancer -Soft Tissue Sarcoma
HMOX1	22q12.3	HO-1, HSP32, HMOX1D, bK286B10		-Breast Cancer -Prostate Cancer -Skin Cancer -Stomach Cancer
MYH9	22q12.3	MHA, FTNS, EPSTS, BDPLT6, DFNA17, NMMHCA, NMHC-II-A, NMMHC-IIA	Somatic	-Acute Myeloid Leukaemia -Breast Cancer -Colorectal Cancer -Lung Cancer -Prostate Cancer
LARGE1	22q12.3	LARGE, MDC1D, MDDGA6, MDDGB6		-Prostate Cancer -Skin Cancer
MCM5	22q12.3	CDC46, P1-CDC46		-Bladder Cancer -Breast Cancer -Cervical Cancer -Prostate Cancer -Urinary System Cancers -Vulvar Cancer
TIMP3	22q12.3	SFD, K222, K222TA2, HSMRK222		-Bladder Cancer -Breast Cancer -Colorectal Cancer -Head and Neck Cancers -Liver Cancer -Lung Cancer -Paranasal Sinus and Nasal Cavity Cancer -Soft Tissue Sarcoma -Stomach Cancer
SSTR3	22q13.1	SS3R, SS3-R, SS-3-R, SSR-28		-Carcinoid Tumours -Lung Cancer -Pancreatic Cancer -Pituitary Tumors -Stomach Cancer -Thyroid Cancer
CBX7	22q13.1			-Bladder Cancer -Brain Tumours, Childhood -Lung Cancer -Prostate Cancer -Stomach Cancer -Thyroid Cancer
RAC2	22q13.1	Gx, EN-7, HSPC022, p21-Rac2		-Brain Tumours, Childhood -Breast Cancer -Chronic Myelogenous Leukemia -Liver Cancer -Ovarian Cancer
PDGFB	22q13.1	SIS, SSV, IBGC5, PDGF2, c-sis, PDGF-2	Somatic Translocation	-Brain Stem Glioma, Childhood -Brain Tumours, Childhood -Breast Cancer -Dermatofibrosarcoma Protuberans
SOX10	22q13.1	DOM, WS4, PCWH, WS2E, WS4C		-Brain Stem Glioma, Childhood -Brain Tumours, Childhood -Eye Cancer -Melanoma -Skin Cancer
ATF4	22q13.1	CREB2, TXREB, CREB-2, TAXREB67		-Breast Cancer
LGALS1	22q13.1	GBP, GAL1		-Bladder Cancer -Breast Cancer -Colorectal Cancer -Lung Cancer -Pancreatic Cancer -Stomach Cancer
MKL1	22q13.1-q13.2	MAL, BSAC, MRTF-A	Somatic Translocation	-Breast Cancer -Leukaemia -Liver Cancer
RBX1	22q13.2	ROC1, RNF75, BA554C12.1		-Breast Cancer -Kidney Cancer -Melanoma -von Hippel-Lindau Disease
XRCC6	22q13.2	ML8, KU70, TLAA, CTC75, CTCBF, G22P1		-Bladder Cancer -Breast Cancer -Cervical Cancer -Leukaemia -Liver Cancer -Lung Cancer -Ovarian Cancer -Prostate Cancer -Skin Cancer -Stomach Cancer -Thyroid Cancer
TSPO	22q13.2	DBI, IBP, MBR, PBR, PBS, BPBS, BZRP, PKBS, PTBR, mDRC, pk18		-Breast Cancer -Colorectal Cancer -Thyroid Cancer -Uterine Sarcoma
EP300	22q13.2	p300, KAT3B, RSTS2	Somatic	-Breast Cancer -Esophageal Cancer -Lung Cancer -Ovarian Cancer -Rubinstein-Taybi Syndrome -Stomach Cancer
CYP2D6	22q13.2	CPD6, CYP2D, CYP2DL1, CYPIID6, P450C2D, P450DB1, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2, P450-DB1		-Breast Cancer -Skin Cancer -Thyroid Cancer
BIK	22q13.2	BP4, NBK, BIP1		-Breast Cancer -Urinary System Cancers
MIRLET7B	22q13.31	LET7B, let-7b, MIRNLET7B, hsa-let-7b		-Breast Cancer -Eye Cancer -Lung Cancer -Small Cell Lung Cancer -Melanoma -Ovarian Cancer -Salivary Gland Cancer -Uterine Sarcoma
MLC1	22q13.33	VL, LVM, MLC

Structural Abnormalities

Selected list of common recurrent structural abnormalities - Chromosome 22:

Abnormality	Type	Gene(s)
t(9;22)(p24;q11.2) BCR-JAK2 fusion		BCR (22q11.23)	JAK2 (9p24.1)
Loss of 22q Material in Childhood CNS tumors	Deletion
BCR-ABL Translocation in Acute Lymphoblastic Leukaemia	Translocation	BCR (22q11.23)	ABL1 (9q34.12)
BCR-ABL Translocation in Chronic Myeloid Leukaemia	Translocation	BCR (22q11.23)	ABL1 (9q34.12)
t(17;22)(q22;q13) COL1A1-PDGFB in Dermatofibrosarcoma Protuberans	Translocation	PDGFB (22q13.1)	COL1A1 (17q21.33)
t(7;22)(p22;q12) EWS-ETV1 Translocation in Ewing's Sarcoma	Translocation	EWSR1 (22q12.2)	ETV1 (7p21.2)
EWSR Translocations in Cutaneous Syncytial Myoepithelioma	Translocation	EWSR1 (22q12.2)
t(11;22)(p13;q12): EWSR1-WT1 in Desmoplastic Small Round Cell Tumour	Translocation	EWSR1 (22q12.2)	WT1 (11p13)
t(11;22)(q24;q12) EWSR1-FLI1 Translocation in Ewing's Sarcoma	Translocation	EWSR1 (22q12.2)	FLI1 (11q24.3)
t(12; 22)(q13; q12) Translocation in Clear Cell Sarcoma	Translocation	EWSR1 (22q12.2)	ATF1 (12q13.12)
t(17;22)(q12;q12) EWSR1-E1AF Translocation in Ewing's Sarcoma	Translocation	EWSR1 (22q12.2)	ETV4 (17q21.31)
t(2;22) EWSR1-FEV Translocation in Ewing's Sarcoma	Translocation	EWSR1 (22q12.2)	FEV (2q36)
t(21;22) EWSR1-ERG Translocations in Ewing's Sarcoma	Translocation	EWSR1 (22q12.2)	ERG (21q22.2)
t(9;22)(q22;q12) in Extraskeletal Myxoid Chondrosarcoma	Translocation	EWSR1 (22q12.2)	NR4A3 (9q31.1)
t(18;22)(q23;q12) EWSR1-NFATC1 fusion in hemangioma of the bone	Translocation	EWSR1 (22q12.2)	NFATC1 (18q23)
t(20;22) EWSR1-NFATC2 in Ewing's Sarcoma	Translocation	EWSR1 (22q12.2)	NFATC2 (20q13.2)
t(1;22)(p13;q13) in Acute Megakaryocytic Leukemia	Translocation	MKL1 (22q13.1-q13.2)	RBM15 (1p13.3)

This is a highly selective list aiming to capture structural abnormalies which are frequesnt and/or significant in relation to diagnosis, prognosis, and/or characterising specific cancers. For a much more extensive list see the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer.