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  Chromosome 22

Genes Linked with Cancer

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
IGL 22q11.2 IGL@, IGLC6Somatic
CRKL 22q11.21 Somatic
COMT 22q11.21 HEL-S-98n-Bladder Cancer
-Breast Cancer
-Prostate Cancer
-Stomach Cancer
SEPT5 22q11.21 H5, CDCREL, PNUTL1, CDCREL1, CDCREL-1, HCDCREL-1Somatic
CLTCL1 22q11.21 CLTD, CHC22, CLH22, CLTCLSomatic
MMP11 22q11.23 ST3, SL-3, STMY3OverexpressionMany cancer types including:
-Breast Cancer
MIF 22q11.23 GIF, GLIF, MMIF
GSTT1 22q11.23 -Bowel Cancer
-Breast Cancer
-Head and Neck Cancers
-Liver Cancer
-Lung Cancer
-Oral Cavity Cancer
-Squamous Cell Carcinoma - Skin
-Testicular Cancer
-Thyroid Cancer
SMARCB1 22q11.23 RDT, INI1, SNF5, Snr1, BAF47, MRD15, RTPS1, Sfh1p, hSNFS, SNF5L1Germline & Somatic
BCR 22q11.23 ALL, CML, PHL, BCR1, D22S11, D22S662Somatic
Translocation
-Acute Lymphocytic Leukaemia (ALL) - adult
-Chronic Myelogenous Leukemia
GSTT2 22q11.23
CHEK2 22q12.1 CDS1, CHK2, LFS2, RAD53, hCds1, HuCds1, PP1425Germline-Osteosarcoma
MN1 22q12.1 MGCR, MGCR1, MGCR1-PEN, dJ353E16.2Somatic
LIF 22q12.2 CDF, DIA, HILDA, MLPLI
EWSR1 22q12.2 EWS, bK984G1.4Somatic
Translocation
-Bone Cancer (primary)
-Chondrosarcoma
-DSRC
-Ewing's Sarcoma
-Skin Cancer
PATZ1 22q12.2 ZSG, MAZR, PATZ, RIAZ, ZBTB19, ZNF278, dJ400N23Somatic
NF2 22q12.2 ACN, SCH, BANFGermline & Somatic
MKL1 22q13 MAL, BSAC, MRTF-ASomatic
Translocation
-Leukaemia
MYH9 22q13.1 MHA, FTNS, EPSTS, BDPLT6, DFNA17, NMMHCA, NMHC-II-A, NMMHC-IIASomatic
CYP2D6 22q13.1 CPD6, CYP2D, CYP2DL1, CYPIID6, P450C2D, P450DB1, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2, P450-DB1
PDGFB 22q13.1 SIS, SSV, IBGC5, PDGF2, c-sis, PDGF-2Somatic
Translocation
-Brain Stem Glioma, Childhood
-Brain Tumours, Childhood
-Breast Cancer
-Dermatofibrosarcoma Protuberans
EP300 22q13.2 p300, KAT3B, RSTS2Somatic
BIK 22q13.31 BP4, NBK, BIP1

Structural Abnormalities

Selected list of common recurrent structural abnormalities - Chromosome 22:

Abnormality Type Gene(s)
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.


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