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  Chromosome 22

Genes Linked with Cancer (40)

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
BID 22q11.1 FP497
DGCR8 22q11.2 Gy1, pasha, DGCRK6, C22orf12-Bladder Cancer
-Breast Cancer
-Cervical Cancer
-Esophageal Cancer
-Ewing's Sarcoma
-Liver Cancer
-Prostate Cancer
-Skin Cancer
IGL 22q11.2 IGL@, IGLC6Somatic-Chronic Lymphocytic Leukemia
-Multiple Myeloma
-Non-Hodgkin Lymphoma
CRKL 22q11.21 Somatic-Chronic Myelogenous Leukemia
-Lung Cancer
CLTCL1 22q11.21 CLTD, CHC22, CLH22, CLTCLSomatic
MAPK1 22q11.21 ERK, p38, p40, p41, ERK2, ERT1, ERK-2, MAPK2, PRKM1, PRKM2, P42MAPK, p41mapk, p42-MAPK-Bladder Cancer
-Cervical Cancer
-Salivary Gland Cancer
-Thyroid Cancer
-Uterine Sarcoma
SEPT5 22q11.21 H5, CDCREL, PNUTL1, CDCREL1, CDCREL-1, HCDCREL-1Somatic-Acute Myeloid Leukaemia
-Childhood Cancers
-Haematological Malignancies
COMT 22q11.21 HEL-S-98n-Bladder Cancer
-Breast Cancer
-Prostate Cancer
-Stomach Cancer
PRAME 22q11.22 MAPE, OIP4, CT130, OIP-4-Acute Lymphocytic Leukaemia (ALL)
-Acute Myeloid Leukaemia
-Chronic Lymphocytic Leukemia
-Chronic Myelogenous Leukemia
-Leukaemia
-Melanoma
-Skin Cancer
MMP11 22q11.23 ST3, SL-3, STMY3OverexpressionMany cancer types including:
-Breast Cancer
-Esophageal Cancer
-Lung Cancer
-Skin Cancer
-Uterine Sarcoma
MIF 22q11.23 GIF, GLIF, MMIF-Brain Tumours, Childhood
-Breast Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Prostate Cancer
-Stomach Cancer
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
GSTT2 22q11.23
BCR 22q11.23 ALL, CML, PHL, BCR1, D22S11, D22S662Somatic
Translocation
-Acute Lymphocytic Leukaemia (ALL)
-Chronic Myelogenous Leukemia
-Leukaemia
SMARCB1 22q11.23 RDT, INI1, SNF5, Snr1, BAF47, MRD15, RTPS1, Sfh1p, hSNFS, SNF5L1, SWNTS1, PPP1R144Germline & Somatic-Brain Tumours, Childhood
-Childhood Cancers
-Kidney Cancer
-Rhabdoid Tumours
-Soft Tissue Sarcoma
CHEK2 22q12.1 CDS1, CHK2, LFS2, RAD53, hCds1, HuCds1, PP1425Germline-Breast Cancer
-Colorectal Cancer
-Osteosarcoma
-Ovarian Cancer
-Prostate Cancer
-Thyroid Cancer
XBP1 22q12.1 XBP2, TREB5, XBP-1-Breast Cancer
-Liver Cancer
-Multiple Myeloma
MN1 22q12.1 MGCR, MGCR1, MGCR1-PEN, dJ353E16.2Somatic-Acute Myeloid Leukaemia
-Childhood Cancers
-Leukaemia
PATZ1 22q12.2 ZSG, MAZR, PATZ, RIAZ, ZBTB19, ZNF278, dJ400N23Somatic-Bone Cancer (primary)
-Breast Cancer
-Ewing's Sarcoma
-Lung Cancer
-Ovarian Cancer
-Soft Tissue Sarcoma
EWSR1 22q12.2 EWS, bK984G1.4Somatic
Translocation
-Bladder Cancer
-Bone Cancer (primary)
-Childhood Cancers
-Chondrosarcoma
-DSRC
-Ewing's Sarcoma
-Salivary Gland Cancer
-Skin Cancer
-Soft Tissue Sarcoma
-Uterine Sarcoma
-Vulvar Cancer
LIF 22q12.2 CDF, DIA, HILDA, MLPLI-Breast Cancer
-Ewing's Sarcoma
NF2 22q12.2 ACN, SCH, BANFGermline & Somatic-Acoustic Neuroma
-Brain Tumours, Childhood
-Childhood Cancers
-Mesothelioma
-Neurofibromatosis
-Skin Cancer
LARGE 22q12.3 MDC1D, MDDGA6, MDDGB6-Breast Cancer
-Cervical Cancer
-Colorectal Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
TIMP3 22q12.3 SFD, K222, K222TA2, HSMRK222-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Stomach Cancer
MKL1 22q13 MAL, BSAC, MRTF-ASomatic
Translocation
-Breast Cancer
-Childhood Cancers
-Leukaemia
-Liver Cancer
SOX10 22q13.1 DOM, WS4, PCWH, WS2E, WS4C-Brain Stem Glioma, Childhood
-Brain Tumours, Childhood
-Melanoma
-Skin Cancer
IL2RB 22q13.1 CD122, IL15RB, P70-75
MYH9 22q13.1 MHA, FTNS, EPSTS, BDPLT6, DFNA17, NMMHCA, NMHC-II-A, NMMHC-IIASomatic-Acute Myeloid Leukaemia
-Breast Cancer
-Childhood Cancers
-Lung Cancer
-Prostate Cancer
SSTR3 22q13.1 SS3R, SS3-R, SS-3-R, SSR-28-Carcinoid Tumours
-Lung Cancer
-Pancreatic Cancer
-Pituitary Tumors
-Stomach Cancer
-Thyroid Cancer
PDGFB 22q13.1 SIS, SSV, IBGC5, PDGF2, c-sis, PDGF-2Somatic
Translocation
-Brain Stem Glioma, Childhood
-Brain Tumours, Childhood
-Breast Cancer
-Dermatofibrosarcoma Protuberans
ATF4 22q13.1 CREB2, TXREB, CREB-2, TAXREB67-Breast Cancer
RAC2 22q13.1 Gx, EN-7, HSPC022, p21-Rac2-Brain Tumours, Childhood
-Liver Cancer
-Ovarian Cancer
LGALS1 22q13.1 GBP, GAL1-Bladder Cancer
-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Pancreatic Cancer
HMOX1 22q13.1 HO-1, HSP32, HMOX1D, bK286B10-Breast Cancer
-Prostate Cancer
-Skin Cancer
-Stomach Cancer
CYP2D6 22q13.1 CPD6, CYP2D, CYP2DL1, CYPIID6, P450C2D, P450DB1, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2, P450-DB1-Breast Cancer
-Skin Cancer
-Thyroid Cancer
EP300 22q13.2 p300, KAT3B, RSTS2Somatic-Breast Cancer
-Esophageal Cancer
-Lung Cancer
-Ovarian Cancer
-Stomach Cancer
XRCC6 22q13.2 ML8, KU70, TLAA, CTC75, CTCBF, G22P1-Bladder Cancer
-Breast Cancer
-Liver Cancer
-Lung Cancer
-Ovarian Cancer
-Skin Cancer
BIK 22q13.31 BP4, NBK, BIP1-Breast Cancer
-Urinary System Cancers
TSPO 22q13.31 DBI, IBP, MBR, PBR, PBS, BPBS, BZRP, PKBS, PTBR, mDRC, pk18-Breast Cancer
-Colorectal Cancer
-Thyroid 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)
Loss of 22q Material in Childhood CNS tumorsDeletion
BCR-ABL Translocation in Acute Lymphoblastic LeukaemiaTranslocationBCR (22q11.23)ABL1 (9q34.1)
BCR-ABL Translocation in Chronic Myeloid LeukaemiaTranslocationBCR (22q11.23)ABL1 (9q34.1)
t(17;22)(q22;q13) COL1A1-PDGFB in Dermatofibrosarcoma ProtuberansTranslocationPDGFB (22q13.1)COL1A1 (17q21.33)
t(7;22)(p22;q12) EWS-ETV1 Translocation in Ewing's SarcomaTranslocationEWSR1 (22q12.2)ETV1 (7p21.3)
EWSR Translocations in Cutaneous Syncytial MyoepitheliomaTranslocationEWSR1 (22q12.2)
t(11;22)(p13;q12): EWSR1-WT1 in Desmoplastic Small Round Cell TumourTranslocationEWSR1 (22q12.2)WT1 (11p13)
t(11;22)(q24;q12) EWSR1-FLI1 Translocation in Ewing's SarcomaTranslocationEWSR1 (22q12.2)FLI1 (11q24.1-q24.3)
t(12; 22)(q13; q12) Translocation in Clear Cell SarcomaTranslocationEWSR1 (22q12.2)ATF1 (12q13)
t(17;22)(q12;q12) EWSR1-E1AF Translocation in Ewing's SarcomaTranslocationEWSR1 (22q12.2)ETV4 (17q21)
t(2;22) EWSR1-FEV Translocation in Ewing's SarcomaTranslocationEWSR1 (22q12.2)FEV (2q36)
t(21;22) EWSR1-ERG Translocations in Ewing's SarcomaTranslocationEWSR1 (22q12.2)ERG (21q22.3)
t(9;22)(q22;q12) in Extraskeletal Myxoid ChondrosarcomaTranslocationEWSR1 (22q12.2)NR4A3 (9q22)
t(18;22)(q23;q12) EWSR1-NFATC1 fusion in hemangioma of the boneTranslocationEWSR1 (22q12.2)NFATC1 (18q23)
t(20;22) EWSR1-NFATC2 in Ewing's SarcomaTranslocationEWSR1 (22q12.2)NFATC2 (20q13.2)
t(1;22)(p13;q13) in Acute Megakaryocytic LeukemiaTranslocationMKL1 (22q13)RBM15 (1p13)

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.


Further Resources (2 links)

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Cite this page: Cotterill SJ. Chromosome 22, Cancer Genetics Web: http://www.cancerindex.org/geneweb/clinkc22.htm Accessed: date

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