Important Oncogenic Mutations Flashcards Preview

USMLE Step 1 > Important Oncogenic Mutations > Flashcards

Flashcards in Important Oncogenic Mutations Deck (4)
1

Translocations assoc. w/hematologic malignancies

  • Burkitt's lymphoma = t(8;14)
    • 8 = c-myc
    • 14 = IgG heavy chain locus
    • ==> overexpression of c-myc
  • CML = t(9;22)
    • BCR-ABL fusion ==> increased tyrosine kinase activity
  • Mantle Cell lymphoma = t(11;14)
    • 11 = cyclin D1 
  • Follicular lymphoma = t(14;18)
    • 18 = BCL2 ==> inhibits apoptosis
  • AML (acute pro-myelocytic leukemia) = t(15;17)
    • 17 = retinoic acid receptor

2

Common proto-oncogenes + gene product + associated cancer

  • RAS = GTP-binding protein
    • Choliangiocarcinoma
  • MYC = transcription factor
    • Burkitt's Lymphoma
  • ERBB-1 (EGFR) = receptor tyrosine kinase
    • Lung adenocarcinoma
  • ERBB-2 (HER2) = receptor tyrosine kinase
    • Breast Cancer
  • ABL = nonreceptor tyrosine kinase
    • chronic myelogenous leukemia
  • BRAF = RAS signal transduction
    • Hairy cell leukemia
    • melanoma

3

Common tumor-suppressor genes + gene product + associated cancer

  • BRCA-1, BRCA-2 = DNA repair gene
    • Breat & Ovarian cancer
  • APC/B-catenin = WNT signaling
    • colorectal, gastric, pancreatic cancer
    • FAP
  • TP53 = genomic stability
    • most cancers
    • Li-Fraumeni
  • Rb = inhibits G1/S transition
    • Retinoblastoma
    • Osteosarcoma
  • WT1 = urogenital differentiation
    • Wilm's tumor
  • VHL = ubiquitin ligase component
    • von-hippel lindau

4

JAK2 Kinase Mutation ==>

  • Myeloproliferative disorders:
    • Polycythemia Vera
    • Essential Thrombocythemia
    • Myelofibrosis

Decks in USMLE Step 1 Class (97):