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
- 8 = c-myc
- 14 = IgG heavy chain locus
- ==> overexpression of c-myc
- BCR-ABL fusion ==> increased tyrosine kinase activity
- 11 = cyclin D1
- 18 = BCL2 ==> inhibits apoptosis
- 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
- Choliangiocarcinoma
- Burkitt's Lymphoma
- Lung adenocarcinoma
- Breast Cancer
- chronic myelogenous leukemia
- 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
- Breat & Ovarian cancer
- colorectal, gastric, pancreatic cancer
- FAP
- most cancers
- Li-Fraumeni
- Retinoblastoma
- Osteosarcoma
- Wilm's tumor
- von-hippel lindau
4
JAK2 Kinase Mutation ==>
- Myeloproliferative disorders:
- Polycythemia Vera
- Essential Thrombocythemia
- Myelofibrosis
- Polycythemia Vera
- Essential Thrombocythemia
- Myelofibrosis