Important Oncogenic Mutations Flashcards by Caitlin Heim | Brainscape

Flashcards in Important Oncogenic Mutations Deck (4)

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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