Common Oncogenic Mutations

Question 1

Translocations assoc. w/hematologic malignancies

Answer 1

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

Question 2

Common proto-oncogenes + gene product + associated cancer

Answer 2

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

Question 3

Common tumor-suppressor genes + gene product + associated cancer

Answer 3

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