Chromosome 21

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

Gene Location Aliases Abnormalities Implicated in
CXADR 21q21.1 CAR, HCAR, CAR4/6
OLIG2 21q22.11 BHLHB1, OLIGO2, RACK17, PRKCBP2, bHLHe19Somatic
TIAM1 21q22.11 -Bowel Cancer
-Breast Cancer
ETS2 21q22.2 ETS2IT1
TFF1 21q22.3 pS2, BCEI, HPS2, HP1.A, pNR-2, D21S21
S100B 21q22.3 NEF, S100, S100-B, S100beta
ERG 21q22.3 p55, erg-3Somatic
Intronic Deletion or Translocation
-Acute Myeloid Leukaemia
-Ewing's Sarcoma
-Prostate Cancer
U2AF1 21q22.3 RN, FP793, U2AF35, U2AFBP, RNU2AF1Somatic
TMPRSS2 21q22.3 PP9284, PRSS10Somatic
Intronic Deletion or Translocation
-Prostate Cancer
RUNX1 21q22.3 AML1, CBFA2, EVI-1, AMLCR1, PEBP2aB, AML1-EVI-1Somatic
-Acute Lymphocytic Leukaemia (ALL) - adult
-Acute Lymphocytic Leukemia (ALL), child
-Acute Myeloid Leukaemia
MX1 21q22.3 MX, MxA, IFI78, IFI-78K

Structural Abnormalities

Selected list of common recurrent structural abnormalities - Chromosome 21:

Abnormality Type Gene(s)
ERG-TMPRSS2 Fusion in Prostate CancerIntronic Deletion or TranslocationERG (21q22.3)TMPRSS2 (21q22.3)
t(8;21)(q22;q22) in Acute Myeloid LeukemiaTranslocationRUNX1 (21q22.3)RUNX1T1 (8q22)
t(12;21) in Adult Lyphocytic LeukaemiaTranslocationRUNX1 (21q22.3)ETV6 (12p13)
t(16;21)(p11;q22) in Leukemia (ANLL)TranslocationERG (21q22.3)FUS (16p11.2)
ETV1 translocations in Prostate CancerTranslocationTMPRSS2 (21q22.3)ETV1 (7p21.3)
t(12;21) in Childhood Acute Lymphoblastic LeukaemiaTranslocationRUNX1 (21q22.3)ETV6 (12p13)
t(3;21)(q26;q22) in Secondary Leukaemia / MDSTranslocationRUNX1 (21q22.3)MECOM (3q26.2)
t(21;22) EWSR1-ERG Translocations in Ewing's SarcomaTranslocationERG (21q22.3)EWSR1 (22q12.2)
t(16;21)(p11;q22) FUS-ERG in Acute Myelogenous LeukemiaTranslocationERG (21q22.3)FUS (16p11.2)
Trisomy 21 / Chromosome 21 Mutations in Childhood LeukaemiaTrisomy

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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