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  Chromosome 12

Genes Linked with Cancer (112)

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 12; or Sort by clicking on a column heading e.g. 'Gene'.

Gene Location Aliases Abnormalities Implicated in
SLCO1B1 12p LST1, HBLRR, LST-1, OATP2, OATPC, OATP-C, OATP1B1, SLC21A6-Acute Lymphocytic Leukaemia (ALL)
-Colorectal Cancer
C12orf9 12 LPP-LRFTSomatic
KDM5A 12p11 RBP2, RBBP2, RBBP-2Somatic-Cervical Cancer
-Childhood Cancers
-Lung Cancer
-Melanoma
-Skin Cancer
-Stomach Cancer
ZNF384 12p12 NP, CIZ, NMP4, CAGH1, ERDA2, TNRC1, CAGH1ASomatic-Acute Lymphocytic Leukaemia (ALL)
-Acute Myeloid Leukaemia
-Childhood Cancers
-Chronic Myelogenous Leukemia
-Ewing's Sarcoma
-Leukaemia
SLCO1B3 12p12 LST3, HBLRR, LST-2, OATP8, OATP-8, OATP1B3, SLC21A8, LST-3TM13-Breast Cancer
-Colorectal Cancer
-Pancreatic Cancer
-Prostate Cancer
SOX5 12p12.1 L-SOX5, L-SOX5B, L-SOX5F-Brain Stem Glioma, Childhood
-Brain Tumours, Childhood
-Breast Cancer
-Prostate Cancer
PTHLH 12p12.1-p11.2 HHM, PLP, BDE2, PTHR, PTHRP-Bone Cancer (primary)
-Breast Cancer
-Cervical Cancer
-Lung Cancer
-Thyroid Cancer
KRAS 12p12.1 NS, NS3, CFC2, KRAS1, KRAS2, RASK2, KI-RAS, C-K-RAS, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4BSomatic-Colorectal Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Pancreatic Cancer
-Skin Cancer
-Thyroid Cancer
EMP1 12p12.3 TMP, CL-20, EMP-1
ARHGDIB 12p12.3 D4, GDIA2, GDID4, LYGDI, Ly-GDI, RAP1GN1, RhoGDI2-Bladder Cancer
-Lung Cancer
-Ovarian Cancer
FOXM1 12p13 MPP2, TGT3, HFH11, HNF-3, INS-1, MPP-2, PIG29, FKHL16, FOXM1B, HFH-11, TRIDENT, MPHOSPH2Many cancer types including:
-Breast Cancer
-Cervical Cancer
-Ewing's Sarcoma
-Liver Cancer
-Lung Cancer
GAPDH 12p13 G3PD, GAPD, HEL-S-162eP-Bladder Cancer
-Breast Cancer
-Cervical Cancer
-Colorectal Cancer
-Liver Cancer
-Lung Cancer
-Stomach Cancer
-Uterine Sarcoma
M6PR 12p13 SMPR, MPR46, CD-MPR, MPR 46, MPR-46-Breast Cancer
-Liver Cancer
-Skin Cancer
LTBR 12p13 CD18, TNFCR, TNFR3, D12S370, TNFR-RP, TNFRSF3, TNFR2-RP, LT-BETA-R, TNF-R-III-Colorectal Cancer
-Liver Cancer
-Nasopharyngeal Cancer
-Prostate Cancer
AICDA 12p13 AID, ARP2, CDA2, HIGM2, HEL-S-284-Chronic Lymphocytic Leukemia
-Skin Cancer
-Stomach Cancer
FGF6 12p13 HST2, HBGF-6
CD69 12p13 AIM, EA1, MLR-3, CLEC2C, GP32/28, BL-AC/P26-Acute Lymphocytic Leukaemia (ALL)
-Breast Cancer
-Chronic Lymphocytic Leukemia
CD27 12p13 T14, S152, Tp55, TNFRSF7, S152. LPFS2-Chronic Lymphocytic Leukemia
-Melanoma
-Multiple Myeloma
PTPN6 12p13 HCP, HCPH, SHP1, SHP-1, HPTP1C, PTP-1C, SHP-1L, SH-PTP1
RAD52 12p13-p12.2 -Breast Cancer
-Lung Cancer
-Ovarian Cancer
-Thyroid Cancer
GPRC5A 12p13-p12.3 RAI3, RAIG1, GPCR5A
CCND2 12p13 MPPH3, KIAK0002Somatic-Breast Cancer
-Mantle-Cell Lymphoma
-Multiple Myeloma
-Non-Hodgkin Lymphoma
-Stomach Cancer
ETV6 12p13 TEL, TEL/ABLSomatic
Translocation
-Acute Lymphocytic Leukaemia (ALL)
-Acute Lymphocytic Leukemia (ALL), child
-Acute Myeloid Leukaemia
-Breast Cancer
-Leukaemia
-Salivary Gland Cancer
-Soft Tissue Sarcoma
-Soft Tissue Sarcoma, Childhood
-Testicular Cancer
CDKN1B 12p13.1-p12 KIP1, MEN4, CDKN4, MEN1B, P27KIP1-Bladder Cancer
-Breast Cancer
-Colorectal Cancer
-Eye Cancer
-Multiple Endocrine Neoplasia
-Parathyroid Cancer
-Prostate Cancer
-Skin Cancer
-Soft Tissue Sarcoma
-Stomach Cancer
-Thyroid Cancer
HEBP1 12p13.1 HBP, HEBP-Breast Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
PRB1 12p13.2 PM, PMF, PMS, PRB1L, PRB1M-Retinoblastoma
LRP6 12p13.2 ADCAD2-Breast Cancer
-Liver Cancer
TNFRSF1A 12p13.2 FPF, MS5, p55, p60, TBP1, TNF-R, TNFAR, TNFR1, p55-R, CD120a, TNFR55, TNFR60, TNF-R-I, TNF-R55, TNFR1-d2-Liver Cancer
-Lung Cancer
PRB2 12p13.2 Ps, cP7, IB-9, PRPPRB1-Lung Cancer
-Retinoblastoma
KLRK1 12p13.2-p12.3 KLR, CD314, NKG2D, NKG2-D, D12S2489E-Cervical Cancer
-Stomach Cancer
-Thymoma and Thymic Carcinoma
SLC2A3 12p13.3 GLUT3-Lung Cancer
CD163 12p13.3 M130, MM130-Breast Cancer
-Eye Cancer
-Gastrointestinal Cancers
-Hodgkin Lymphoma
-Melanoma
ERC1 12p13.3 ELKS, Cast2, ERC-1, RAB6IP2Somatic-Breast Cancer
-Colorectal Cancer
-Liver Cancer
-Thyroid Cancer
CD9 12p13.3 MIC3, MRP-1, BTCC-1, DRAP-27, TSPAN29, TSPAN-29Many cancer types including:
-Acute Lymphocytic Leukaemia (ALL)
-Breast Cancer
-Childhood Leukaemia
-Esophageal Cancer
-Lung Cancer
-Skin Cancer
FGF23 12p13.3 ADHR, FGFN, HYPF, HPDR2, PHPTC-Prostate Cancer
-Skin Cancer
-Thymoma and Thymic Carcinoma
ING4 12p13.31 my036, p29ING4-Breast Cancer
-Lung Cancer
-Melanoma
-Pancreatic Cancer
-Stomach Cancer
ADIPOR2 12p13.31 PAQR2, ACDCR2-Breast Cancer
-Colorectal Cancer
-Endometrial Cancer
NANOG 12p13.31 -Breast Cancer
-Germ Cell Tumours
-Prostate Cancer
SOCS2 12q CIS2, SSI2, Cish2, SSI-2, SOCS-2, STATI2-Acute Myeloid Leukaemia
-Breast Cancer
-Prostate Cancer
-Skin Cancer
CD63 12q12-q13 MLA1, ME491, LAMP-3, OMA81H, TSPAN30-Lung Cancer
-Melanoma
-Thyroid Cancer
ARID2 12q12 p200, BAF200Somatic-Liver Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Melanoma
-Ovarian Cancer
-Pancreatic Cancer
-Skin Cancer
ATF1 12q13 TREB36, EWS-ATF1, FUS/ATF-1Somatic
Translocation
-Bone Cancer (primary)
-Lung Cancer
-Melanoma
-Salivary Gland Cancer
-Skin Cancer
-Soft Tissue Sarcoma
STAT6 12q13 STAT6B, STAT6C, D12S1644, IL-4-STAT-Breast Cancer
-Colorectal Cancer
-Hodgkin Lymphoma
WNT1 12q13 INT1, OI15, BMND16-Breast Cancer
YEATS4 12q13-q15 YAF9, GAS41, NUBI-1, 4930573H17Rik, B230215M10Rik-Brain Stem Glioma, Childhood
-Brain Tumours, Childhood
-Soft Tissue Sarcoma
CDK2 12q13 CDKN2, p33(CDK2)-Breast Cancer
-Thymoma and Thymic Carcinoma
NR4A1 12q13 HMR, N10, TR3, NP10, GFRP1, NAK-1, NGFIB, NUR77-Breast Cancer
-Cervical Cancer
-Colorectal Cancer
PMEL 12q13-q14 P1, SI, SIL, ME20, P100, SILV, ME20M, gp100, ME20-M, PMEL17, D12S53E-Melanoma
-Skin Cancer
KRT8 12q13 K8, KO, CK8, CK-8, CYK8, K2C8, CARD2-Brain Tumours, Childhood
-Breast Cancer
-Liver Cancer
-Ovarian Cancer
-Prostate Cancer
-Wilms Tumour
WNT10B 12q13 SHFM6, WNT-12-Brain Tumours, Childhood
-Breast Cancer
-Osteosarcoma
-Prostate Cancer
-Stomach Cancer
ERBB3 12q13 HER3, LCCS2, ErbB-3, c-erbB3, erbB3-S, MDA-BF-1, c-erbB-3, p180-ErbB3, p45-sErbB3, p85-sErbB3-Breast Cancer
-Ewing's Sarcoma
-Lung Cancer
-Salivary Gland Cancer
ENDOU 12q13.1 P11, PP11, PRSS26-Astrocytoma, Childhood
-Bladder Cancer
-Brain Tumours, Childhood
-Chronic Myelogenous Leukemia
-Lung Cancer
-Oral Cavity Cancer
-Stomach Cancer
DDIT3 12q13.1-q13.2 CHOP, CEBPZ, CHOP10, CHOP-10, GADD153Somatic
Translocation
-Breast Cancer
-Soft Tissue Sarcoma
KMT2D 12q13.12 ALR, KMS, MLL2, MLL4, AAD10, KABUK1, TNRC21, CAGL114Somatic-Breast Cancer
-Esophageal Cancer
GRASP 12q13.13 TAMALIN-Bladder Cancer
-Breast Cancer
-Colorectal Cancer
-Leukaemia
-Liver Cancer
-Melanoma
-Skin Cancer
-Thyroid Cancer
KRT1 12q13.13 K1, CK1, EHK, EHK1, EPPK, KRT1A, NEPPK-Cervical Cancer
-Skin Cancer
HOTAIR 12q13.13 HOXAS, HOXC-AS4, HOXC11-AS1, NCRNA00072-Breast Cancer
-Esophageal Cancer
-Liver Cancer
-Lung Cancer
KRT7 12q13.13 K7, CK7, SCL, K2C7-Bladder Cancer
-Cervical Cancer
-Colorectal Cancer
-Esophageal Cancer
-Kidney Cancer
-Ovarian Cancer
-Pancreatic Cancer
-Uterine Sarcoma
TARBP2 12q13.13 LOQS, TRBP, TRBP1, TRBP2Somatic
KRT5 12q13.13 K5, CK5, DDD, DDD1, EBS2, KRT5A-Bladder Cancer
-Breast Cancer
-Skin Cancer
GLI1 12q13.2-q13.3 GLI-Medulloblastoma
-Childhood Cancers
-Ewing's Sarcoma
-Pancreatic Cancer
-Basal Cell Carcinoma (BCC) - Skin
-Stomach Cancer
HOXC6 12q13.3 CP25, HOX3, HOX3C, HHO.C8-Neuroblastoma
-Prostate Cancer
-Skin Cancer
MARS 12q13.3 MRS, METRS, MTRNS, SPG70-Breast Cancer
-Leukaemia
-Lung Cancer
-Ovarian Cancer
STAT2 12q13.3 P113, ISGF-3, STAT113-Colorectal Cancer
-Melanoma
-Skin Cancer
HOXC13 12q13.3 HOX3, ECTD9, HOX3GSomatic-Acute Myeloid Leukaemia
-Leukaemia
-Oral Cavity Cancer
HOXC11 12q13.3 HOX3HSomatic-Acute Myeloid Leukaemia
-Breast Cancer
-Chronic Myelogenous Leukemia
TSPAN31 12q13.3 SAS-Osteosarcoma
-Soft Tissue Sarcoma
HOXC10 12q13.3 HOX3I-Breast Cancer
LRP1 12q13.3 APR, LRP, A2MR, CD91, APOER, LRP1A, TGFBR5, IGFBP3R-Breast Cancer
-Lung Cancer
-Ovarian Cancer
-Prostate Cancer
AVPR1A 12q14-q15 V1aR, AVPR1, AVPR V1a-Adrenocortical Cancer
-Breast Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
-Pituitary Tumors
CDK4 12q14 CMM3, PSK-J3Germline-Bladder Cancer
-Breast Cancer
-Eye Cancer
-Small Cell Lung Cancer
-Melanoma
-Familial Melanoma
-Osteosarcoma
-Rhabdomyosarcoma
-Skin Cancer
-Testicular Cancer
LRIG3 12q14.1 LIG3Somatic-Astrocytoma, Childhood
-Bladder Cancer
-Brain Stem Glioma, Childhood
-Brain Tumours, Childhood
-Pituitary Tumors
CYP27B1 12q14.1 VDR, CP2B, CYP1, PDDR, VDD1, VDDR, VDDRI, CYP27B, P450c1, CYP1alpha-Breast Cancer
-Cervical Cancer
-Colorectal Cancer
-Prostate Cancer
-Skin Cancer
WIF1 12q14.3 WIF-1Somatic-Breast Cancer
-Childhood Cancers
-Colorectal Cancer
-Lung Cancer
-Lung Cancer, Non-Small Cell
MDM2 12q14.3-q15 HDMX, hdm2, ACTFSSomatic-Breast Cancer
-Cervical Cancer
-Childhood Leukaemia
-Eye Cancer
-Osteosarcoma
-Ovarian Cancer
-Retinoblastoma
-Rhabdomyosarcoma
-Stomach Cancer
-Testicular Cancer
-Uterine Sarcoma
HMGA2 12q15 BABL, LIPO, HMGIC, HMGI-C, STQTL9Somatic-Lung Cancer
-Ovarian Cancer
FRS2 12q15 SNT, SNT1, FRS2A, SNT-1, FRS2alpha-Lung Cancer
-Prostate Cancer
PAWR 12q21 PAR4, Par-4-Acute Myeloid Leukaemia
-Breast Cancer
-Prostate Cancer
-Skin Cancer
PTPRQ 12q21.2 DFNB84, DFNB84A, PTPGMC1, R-PTP-Q-Breast Cancer
-Colorectal Cancer
-Thyroid Cancer
GLIPR1 12q21.2 GLIPR, RTVP1, CRISP7-Acute Myeloid Leukaemia
-Brain Tumours, Childhood
-Breast Cancer
-Prostate Cancer
-Wilms Tumour
KITLG 12q22 SF, MGF, SCF, FPH2, KL-1, Kitl, SHEP7-Acute Lymphocytic Leukaemia (ALL)
-Acute Myeloid Leukaemia
-Breast Cancer
-Lung Cancer
-Prostate Cancer
DUSP6 12q22-q23 HH19, MKP3, PYST1-Breast Cancer
-Lung Cancer
-Melanoma
-Pancreatic Cancer
-Thyroid Cancer
BTG1 12q22 Somatic-Acute Lymphocytic Leukaemia (ALL)
-Breast Cancer
-Childhood Cancers
-Ovarian Cancer
-Prostate Cancer
LGR5 12q22-q23 FEX, HG38, GPR49, GPR67, GRP49-Colorectal Cancer
-Liver Cancer
-Stomach Cancer
APAF1 12q23 CED4, APAF-1-Colorectal Cancer
-Melanoma
-Testicular Cancer
NACA 12q23-q24.1 HSD48, NACA1, skNACSomatic-Acute Myeloid Leukaemia
ELK3 12q23 ERP, NET, SAP2
TXNRD1 12q23-q24.1 TR, TR1, TXNR, TRXR1, GRIM-12-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Prostate Cancer
CRY1 12q23-q24.1 PHLL1-Breast Cancer
-Chronic Lymphocytic Leukemia
-Colorectal Cancer
-Prostate Cancer
RASAL1 12q23-q24 RASAL-Bladder Cancer
-Colorectal Cancer
-Liver Cancer
-Stomach Cancer
-Thyroid Cancer
SLC5A8 12q23.1 AIT, SMCT, SMCT1-Breast Cancer
-Colorectal Cancer
-Head and Neck Cancers
-Thyroid Cancer
SNRPF 12q23.1 SMF, Sm-F, snRNP-F-Colorectal Cancer
-Ovarian Cancer
ASCL1 12q23.2 ASH1, HASH1, MASH1, bHLHa46-Lung Cancer
-Lung Cancer, Non-Small Cell
-Small Cell Lung Cancer
-Neuroblastoma
IGF1 12q23.2 IGFI, IGF-I, IGF1A-Breast Cancer
-Colorectal Cancer
-Lung Cancer
-Stomach Cancer
-Thyroid Cancer
CKAP4 12q23.3 p63, CLIMP-63, ERGIC-63-Breast Cancer
-Head and Neck Cancers
-Prostate Cancer
-Salivary Gland Cancer
-Testicular Cancer
P2RX7 12q24 P2X7-Chronic Lymphocytic Leukemia
-Neuroblastoma
-Prostate Cancer
PTPN11 12q24 CFC, NS1, SHP2, BPTP3, PTP2C, PTP-1D, SH-PTP2, SH-PTP3Somatic-Acute Myeloid Leukaemia
-Childhood Cancers
-Leukaemia
-Stomach Cancer
BRAP 12q24 IMP, BRAP2, RNF52-Breast Cancer
-Lung Cancer
-Ovarian Cancer
NCOR2 12q24 SMRT, TRAC, CTG26, SMRTE, TRAC1, N-CoR2, TNRC14, TRAC-1, SMAP270, SMRTE-tau-Breast Cancer
-Prostate Cancer
MSI1 12q24 -Bladder Cancer
-Brain Tumours, Childhood
-Breast Cancer
-Colorectal Cancer
-Stomach Cancer
BCL7A 12q24.13 BCL7Somatic-Cutaneous T-cell lymphoma
-Skin Cancer
OAS3 12q24.2 p100
ALDH2 12q24.2 ALDM, ALDHI, ALDH-E2Somatic-Colorectal Cancer
-Esophageal Cancer
-Head and Neck Cancers
-Oral Cavity Cancer
-Rectal Cancer
-Stomach Cancer
HNF1A 12q24.2 HNF1, LFB1, TCF1, MODY3, TCF-1, HNF-1A, IDDM20Germline & Somatic-Liver Cancer
TBX3 12q24.21 UMS, XHL, TBX3-ISO-Bladder Cancer
-Breast Cancer
-Liver Cancer
-Melanoma
PEBP1 12q24.23 PBP, HCNP, PEBP, RKIP, HCNPpp, PEBP-1, HEL-210, HEL-S-34-Breast Cancer
-Colorectal Cancer
-Melanoma
-Prostate Cancer
POLE 12q24.3 FILS, POLE1, CRCS12-Breast Cancer
-Colorectal Cancer
-Kidney Cancer
-Lung Cancer
CLIP1 12q24.3 RSN, CLIP, CYLN1, CLIP170, CLIP-170
DIABLO 12q24.31 SMAC, DFNA64-Cervical Cancer
-Lung Cancer
-Stomach Cancer
SETD1B 12q24.31 KMT2G, Set1B-Colorectal Cancer
-Esophageal Cancer
-Stomach Cancer
CDK2AP1 12q24.31 DOC1, ST19, DORC1, doc-1, p12DOC-1-Acute Lymphocytic Leukaemia (ALL)
-Colorectal Cancer
-Oral Cavity Cancer
CHFR 12q24.33 RNF116, RNF196-Acute Lymphocytic Leukaemia (ALL)
-Colorectal Cancer
-Lung Cancer
-Stomach Cancer

Structural Abnormalities

Selected list of common recurrent structural abnormalities - Chromosome 12:

Abnormality Type Gene(s)
Isochromosome 12p in Testicular CancerIsochromosome
t(1;12)(q25;p13) in Leukaemia (AML & ALL)TranslocationETV6 (12p13)ABL2 (1q25.2)
t(12;21) in Adult Lyphocytic LeukaemiaTranslocationETV6 (12p13)RUNX1 (21q22.3)
t(3;12)(p13;q22) in LeukaemiaTranslocationRUNX1 (21q22.3)
t(12;15)(p13;q25) ETV6-NTRK3 in Breast CancerTranslocationETV6 (12p13)NTRK3 (15q25)
t(12;15)(p13;q25) ETV6-NTRK3 in Congenital FibrosarcomaTranslocationETV6 (12p13)NTRK3 (15q25)
t(12;15)(p13;q25) ETV6-NTRK3 in congenital mesoblastic nephromaTranslocationETV6 (12p13)NTRK3 (15q25)
t(12;21) in Childhood Acute Lymphoblastic LeukaemiaTranslocationETV6 (12p13)RUNX1 (21q22.3)
t(12; 22)(q13; q12) Translocation in Clear Cell SarcomaTranslocationATF1 (12q13)EWSR1 (22q12.2)
t(12;16)(q13;p11) FUS-DDIT3 in Mixoid LiposarcomaTranslocationDDIT3 (12q13.1-q13.2)FUS (16p11.2)
t(9;12)(p24;p13) ETV6-JAK2 fusion in lymphoid and myeloid leukemiaTranslocationETV6 (12p13)JAK2 (9p24)
t(5;12)(q33;p13) in Chronic Myelomonocytic LeukemiaTranslocationETV6 (12p13)PDGFRB (5q33.1)
Trisomy 12 in Ewing's SarcomaTrisomy
Trisomy 12 in Hairy Cell LeukemiaTrisomy

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 12, Cancer Genetics Web: http://www.cancerindex.org/geneweb/clinkc12.htm Accessed: date

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