Pathology Tumor Suppressor Genes

  1. RB1
    retinoblastoma, osteosarcoma
  2. VHL
    von Hippel-Lindau gene

    Clear cell renal carcinoma
  3. p53
    • chr17p13.1
    • mutated 50% tumors
    • can inherit mutated allele
    • critical gatekeeper: cell cycle arrest and init of apoptosis
    • mutated p53 tumors = relatively resistant to chemo/rad
  4. APC
    chr5q21

    APC/B-catenin pathway

    familial adenomatous polyps
  5. INK4a/ARF
    familial melanoma
  6. TGFb
    colonic carcinoma pt w HNPCC
  7. NF-1
    neurofibromatosis type 1

    GTPase act protein
  8. NF-2
    Neurofibromatosis type 2

    Merlin protein establishes stable cell-to-cell junctions
  9. VHL
    chr3

    Familial/sporadic renal cell CA
  10. PTEN
    • chr10q23
    • endometrial carcinomas, glioblastoma
  11. WT-1
    chr11p13

    Wilms tumor
  12. WT-2
    Beckwith-Wiedemann syndrome
  13. DCC
    • chr18q21
    • colon, renal carcinomas
  14. cadherins
    breast, esophagus, colon, ovarian
  15. E-cadherin
    • somatic- stomach carcinoma
    • inher- gastric CA
  16. SMAD2/4
    colon,pancreas
  17. BRCA1/2
    familial breast,ovarian
Author
jlolson83
ID
110576
Card Set
Pathology Tumor Suppressor Genes
Description
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Updated