Chromosome 21 | Cancer Genetics Web

Chromosome 21

Genes Linked with Cancer (26)

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

Gene	Location	Aliases	Abnormalities	Implicated in
BAGE	21p11.1	BAGE1, CT2.1		-Breast Cancer -Liver Cancer -Lung Cancer -Melanoma -Multiple Myeloma -Ovarian Cancer
TPTE	21p11.2	CT44, PTEN2		-Bladder Cancer -Eye Cancer -Skin Cancer -Soft Tissue Sarcoma -Uterine Sarcoma
MIRLET7C	21q21.1	LET7C, let-7c, MIRNLET7C, hsa-let-7c		-Esophageal Cancer -Liver Cancer -Lung Cancer -Lung Cancer, Non-Small Cell -Small Cell Lung Cancer -Pancreatic Cancer -Prostate Cancer
CXADR	21q21.1	CAR, HCAR, CAR4/6		-Stomach Cancer
BACH1	21q21.3	BACH-1, BTBD24		-Breast Cancer -Fanconi Anaemia -Ovarian Cancer
ADAMTS1	21q21.3	C3-C5, METH1		-Bone Cancer (primary) -Cancer Screening -Colorectal Cancer -Liver Cancer -Lung Cancer -Pancreatic Cancer -Prostate Cancer
SOD1	21q22.11	ALS, SOD, ALS1, IPOA, hSod1, HEL-S-44, homodimer		-Breast Cancer -Neuroblastoma -Prostate Cancer
TIAM1	21q22.11			-Breast Cancer -Colorectal Cancer
DONSON	21q22.11	B17, C21orf60		-Astrocytoma, Childhood -Brain and CNS Tumours -Brain Tumours, Childhood -Brain, Ependymoma, Childhood -Medulloblastoma -Rhabdoid Tumours
OLIG2	21q22.11	BHLHB1, OLIGO2, RACK17, PRKCBP2, bHLHe19	Somatic	-Astrocytoma, Childhood -Brain and CNS Tumours -Brain Stem Glioma, Childhood -Brain Tumours, Childhood
RUNX1	21q22.12	AML1, CBFA2, EVI-1, AMLCR1, PEBP2aB, CBF2alpha, AML1-EVI-1, PEBP2alpha	Somatic Translocation	-Acute Lymphocytic Leukaemia (ALL) -Acute Lymphocytic Leukemia (ALL), child -Acute Myeloid Leukaemia -Leukaemia
ERG	21q22.2	p55, erg-3	Somatic Translocation Intronic Deletion or Translocation	-Acute Myeloid Leukaemia -Ewing's Sarcoma -Prostate Cancer
ETS2	21q22.2	ETS2IT1		-Acute Myeloid Leukaemia -Breast Cancer -Cervical Cancer -Down Syndrome -Leukaemia -Lung Cancer -Prostate Cancer
ADARB1	21q22.3	RED1, ADAR2, DRABA2, DRADA2		-Astrocytoma, Childhood -Brain Stem Glioma, Childhood -Brain Tumours, Childhood -Liver Cancer -Skin Cancer
TMPRSS2	21q22.3	PP9284, PRSS10	Somatic Intronic Deletion or Translocation	-Prostate Cancer
U2AF1	21q22.3	RN, FP793, U2AF35, U2AFBP, RNU2AF1	Somatic	-Acute Myeloid Leukaemia -Chronic Myelogenous Leukemia -Haematological Malignancies -Lung Cancer -Myelodysplastic Syndromes
TFF2	21q22.3	SP, SML1		-Bile Duct Cancer -Breast Cancer -Pancreatic Cancer -Stomach Cancer
S100B	21q22.3	NEF, S100, S100-B, S100beta		-Bladder Cancer -Melanoma
SLC19A1	21q22.3	CHMD, FOLT, IFC1, REFC, RFC1		-Acute Lymphocytic Leukaemia (ALL) -Lung Cancer -Rectal Cancer
CSTB	21q22.3	PME, ULD, CST6, EPM1, STFB, CPI-B, EPM1A		-Brain Tumours, Childhood -Esophageal Cancer -Liver Cancer -Skin Cancer
ITGB2	21q22.3	LAD, CD18, MF17, MFI7, LCAMB, LFA-1, MAC-1		-Breast Cancer -Chronic Lymphocytic Leukemia -Colorectal Cancer -Leukaemia -Skin Cancer -Thyroid Cancer
TFF1	21q22.3	pS2, BCEI, HPS2, HP1.A, pNR-2, D21S21		-Breast Cancer -Stomach Cancer
MX1	21q22.3	MX, MxA, IFI78, IFI-78K		-Acute Myeloid Leukaemia -Breast Cancer -Prostate Cancer
TFF3	21q22.3	ITF, P1B, TFI		-Breast Cancer -Prostate Cancer -Stomach Cancer -Thyroid Cancer
COL18A1	21q22.3	KS, KNO, KNO1		-Bladder Cancer -Lung Cancer -Nasopharyngeal Cancer -Ovarian Cancer -Prostate Cancer -Skin Cancer
TRPM2	21q22.3	KNP3, EREG1, TRPC7, LTRPC2, NUDT9H, LTrpC-2, NUDT9L1		-Breast Cancer -Ovarian Cancer -Prostate Cancer -Skin Cancer

Structural Abnormalities

Selected list of common recurrent structural abnormalities - Chromosome 21:

Abnormality	Type	Gene(s)
ERG-TMPRSS2 Fusion in Prostate Cancer	Intronic Deletion or Translocation	ERG (21q22.2)	TMPRSS2 (21q22.3)
t(8;21)(q22;q22) in Acute Myeloid Leukemia	Translocation	RUNX1 (21q22.12)	RUNX1T1 (8q21.3)
t(12;21) in Adult Lyphocytic Leukaemia	Translocation	RUNX1 (21q22.12)	ETV6 (12p13.2)
t(16;21)(p11;q22) in Leukemia (ANLL)	Translocation	ERG (21q22.2)	FUS (16p11.2)
ETV1 translocations in Prostate Cancer	Translocation	TMPRSS2 (21q22.3)	ETV1 (7p21.2)
t(12;21) in Childhood Acute Lymphoblastic Leukaemia	Translocation	RUNX1 (21q22.12)	ETV6 (12p13.2)
t(3;21)(q26;q22) in Secondary Leukaemia / MDS	Translocation	RUNX1 (21q22.12)	MECOM (3q26.2)
t(21;22) EWSR1-ERG Translocations in Ewing's Sarcoma	Translocation	ERG (21q22.2)	EWSR1 (22q12.2)
t(16;21)(p11;q22) FUS-ERG in Acute Myelogenous Leukemia	Translocation	ERG (21q22.2)	FUS (16p11.2)
Trisomy 21 / Chromosome 21 Mutations in Childhood Leukaemia	Trisomy
Trisomy 21 in Down Syndrome	Trisomy

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.