Radiation Oncology/Cancer genetics

List of Chromosomes and their related cancer genes

Chromosome 1

Chromosome 2

Chromosome 3

• 3p26: Von-Hippel Lindau, VHL gene (3p26)

Chromosome 4

Chromosome 5

• 5q deletion: Familial Adenomatous Polyposis (FAP) Syndrome and Hereditary Colorectal Syndromes

Chromosome 6

Chromosome 7

Chromosome 8

Chromosome 9

• 9q34.1: Abl, involved in bcr-abl fusion gene
• 9q34: TSC1, involved in tuberous sclerosis

Chromosome 10

Chromosome 11 ATM is located on human chromosome 11 (11q22.3) Chromosome 12

Chromosome 13

• 13q15: Rb, retinoblastoma, other tumors

Chromosome 14

Chromosome 15

Chromosome 16

• 16p13: TSC2, involved in tuberous sclerosis

Chromosome 17

• 17p13.1: p53 (TP53) tumor suppressor

Chromosome 18

• 18q21.3: Bcl-2 gene, follicular lymphoma, t(14;18)(q32;q21)

Chromosome 19

Chromosome 20

Chromosome 21

Chromosome 22

• 22q11.2: Bcr gene, bcr-abl translocation (Philadelphia chromosome), CML
• 22: EWS gene, Ewing's sarcoma

Chromosome X

Chromosome Y

Chromosomal translocations involved in oncology

See also List of chromosomal translocations at Wikipedia

• t(1;12)(q21;p13)
  • Acute myelogenous leukemia
• t(1;13)
  • PAX7-FKHR: Rhabdomyosarcoma
• t(2;5)(p23;q35)
  • Anaplastic large cell lymphoma
• t(2;13)
  • PAX3-FKHR: Rhabdomyosarcoma
• t(8;14)
  • c-myc
  • Burkitt's lymphoma
• t(9;12)(p24;p13) CML, ALL
• t(9;22)(q34;q11)
  • BCR-ABL (Philadelphia chromosome). Role of BCR is not completely clear, but appears to be involved with superoxide production. Abl has 2 isoforms: nuclear abl is involved with regulation of cell death after DNA damage. Cytoplasmic abl appears to function in cell adhesion
  • Results in CML, ALL
• t(11;14)
  • Mantle cell lymphoma
• t(11;18)
  • MALT lymphoma - associated with antibiotic resistance in gastric MALT
• t(11;22)(q24;q11.2-12)
  • EWS-FLI1: Ewing's sarcoma
• t(12;16)
  • TLS-CHOP: Myxoid liposarcoma
• t(14;18) (q32;q21)
  • Bcl-2 (18) is translocated next to the immunoglobulin heavy chain locus. See Apoptosis for further discussion of Bcl-2
  • Follicular lymphoma 80-90%
  • DLBCL ~30%
• t(15;17)
  • Acute promyelocytic leukemia
• t(17;22):
  • PDFGB-COL1A1: Dermatofibrosarcoma protuberans
• t(21;22)
  • EWS-ERF: Ewing's sarcoma
• t(X;18)(p11.2;q11.2)
  • SYT-SSX: Synovial sarcoma