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  Chromosome 12

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

Gene Location Aliases Abnormalities Implicated in
C12orf9 12 LPP-LRFTSomatic
KDM5A 12p11 RBP2, RBBP2, RBBP-2Somatic
ZNF384 12p12 NP, CIZ, NMP4, CAGH1, ERDA2, TNRC1, CAGH1ASomatic
KRAS 12p12.1 NS, NS3, CFC2, KRAS1, KRAS2, RASK2, KI-RAS, C-K-RAS, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4BSomatic
PTHLH 12p12.1-p11.2 HHM, PLP, BDE2, PTHR, PTHRP-Bone Cancer (primary)
-Breast Cancer
-Cervical Cancer
-Lung Cancer
-Thyroid Cancer
SOX5 12p12.1 L-SOX5, L-SOX5B, L-SOX5F, RP11-444D3.1
EMP1 12p12.3 TMP, CL-20, EMP-1
GPRC5A 12p13-p12.3 RAI3, RAIG1, GPCR5A
CCND2 12p13 KIAK0002Somatic
ETV6 12p13 TEL, TEL/ABLSomatic
Translocation
-Acute Lymphocytic Leukaemia (ALL) - adult
-Acute Lymphocytic Leukemia (ALL), child
-Breast Cancer
-Leukaemia
-Soft Tissue Sarcoma, Childhood
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
FGF6 12p13 HST2, HBGF-6
CDKN1B 12p13.1-p12 KIP1, MEN4, CDKN4, MEN1B, P27KIP1
CD9 12p13.3 MIC3, MRP-1, BTCC-1, DRAP-27, TSPAN29, TSPAN-29Many cancer types including:
-Acute Lymphocytic Leukaemia (ALL) - adult
-Breast Cancer
-Childhood Leukaemia
-Lung Cancer
-Oesophageal Cancer
-Skin Cancer
SLC2A3 12p13.3 GLUT3-Lung Cancer
ERC1 12p13.3 ELKS, Cast2, RAB6IP2Somatic
ARID2 12q12 p200, BAF200Somatic
CD63 12q12-q13 MLA1, ME491, LAMP-3, OMA81H, TSPAN30-Lung Cancer
-Melanoma
-Thyroid Cancer
YEATS4 12q13-q15 YAF9, GAS41, NUBI-1, 4930573H17Rik, B230215M10Rik
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
ATF1 12q13 TREB36, EWS-ATF1, FUS/ATF-1Somatic
Translocation
-Bone Cancer (primary)
-Lung Cancer
-Melanoma
-Salivary Gland Cancer
-Skin Cancer
-Soft Tissue Sarcoma
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
TARBP2 12q13.13 LOQS, TRBP, TRBP1, TRBP2Somatic
GLI1 12q13.2-q13.3 GLI-Ewing's Sarcoma
HOXC10 12q13.3 HOX3I-Breast Cancer
TSPAN31 12q13.3 SAS-Osteosarcoma
-Soft Tissue Sarcoma
HOXC11 12q13.3 HOX3HSomatic
HOXC13 12q13.3 HOX3, ECTD9, HOX3GSomatic
CDK4 12q14 CMM3, PSK-J3Germline-Bladder Cancer
-Breast Cancer
-Eye Cancer
-Small Cell Lung Cancer
-Melanoma
-Osteosarcoma
-Rhabdomyosarcoma
-Skin Cancer
-Testicular Cancer
LRIG3 12q14.1 LIG3Somatic
WIF1 12q14.3 WIF-1Somatic
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
PAWR 12q21 PAR4, Par-4
BTG1 12q22 Somatic
KITLG 12q22 SF, MGF, SCF, FPH2, KL-1, Kitl, SHEP7
RASAL1 12q23-q24 RASAL
ELK3 12q23 ERP, NET, SAP2
NACA 12q23-q24.1 HSD48, NACA1Somatic
IGF1 12q23.2 IGFI, IGF-I, IGF1A-Bowel Cancer
-Breast Cancer
-Lung Cancer
-Stomach Cancer
PTPN11 12q24 CFC, NS1, SHP2, BPTP3, PTP2C, PTP-1D, SH-PTP2, SH-PTP3Somatic
BCL7A 12q24.13 BCL7Somatic
HNF1A 12q24.2 HNF1, LFB1, TCF1, MODY3, TCF-1, HNF-1A, IDDM20Germline & Somatic
ALDH2 12q24.2 ALDM, ALDHI, ALDH-E2Somatic-Bowel Cancer
-Head and Neck Cancers
-Oesophageal Cancer
-Oral Cavity Cancer
-Rectal Cancer
-Stomach Cancer
CLIP1 12q24.3 RSN, CLIP, CYLN1, CLIP170, CLIP-170

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(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.


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