Tumor Genes Flashcards
E-cadherin
Gastric carcinoma, lobular breast carcinoma
c-MYC
Transcriptional activator; Burkitt lymphoma
NF2
Neurofibromatosis type 2; acoustin schwannoma and meinigioma
KRAS
GTP-binding proteins; Colon, lung, and pancreatic tumors
Burkitt lymphoma
c-MYC 8q24/IGH 14q32 translocation
NRAS
GTP-binding proteins; Melanomas, hematologic malignancies
RET
Receptor for neutrophic factors; Multiple endocrine neoplasia 2A and 2B
INK4/ARF Family
p16/INK4a binds to cyclin D-CDK4 and promotes inhibitory effects of RB
p14/ARF increases p53 levels by inhibiting MDM2 activity
JAK2
JAK/STAT signal transduction; Myeloproliferative disorders
CCND1 (cyclin D)
Cyclins; mantle cell lymphoma
KIT
Receptor for KIT ligand; Gastrointestinal stromal tumors
MEN1
Multiple endocrine neoplasia-1 (pituitary, parathyroid and pancreatic endocrine tumors)
ALK
ALK receptor; Adenocarcinoma of lung
NOTCH1
NOTCH signal transduction; Leukemias
p53
tumor suppressive; causes cell cycle arrest and apoptosis
required for G1/S checkpoint and main component of G2/M checkpoint
Chronic myelogenous leukemia
ABL 9q34/BCR 22q11 translocation
NF1
Neurofibromatosis type 1; peripheral nerve sheath (skin tumors)
n-MYC
Transcriptional activation; neuroblastoma
l-MYC
Transcriptional activation; small cell carcinoma of lung
RB
tumor suppressive; prevents G1/S transition
Retinoblastoma and osteosarcoma
BRCA1/2
familial breast and ovarian cancers
GNAS
GTP-binding proteins; Pituitary adenoma, other endocrine tumors
PTEN
Cowden syndrome
VHL
Von Hippel Lindau syndrome (renal cell carcinoma)
WT1
Wilms Tumor
ERBB1 (EGFR)
EGF-receptor family; Adenocarcinoma of lung
ERBB2 (HER)
EGF-receptor family; Breast carcinoma
CDK4; D cyclins
phosphorylates RB, allowing cell to progress through G1 restriction point
Ewing sarcoma
FLI1 11q24/EWSR1 22q12 translocation
TP53
p53 protein, Li-Fraumeni syndrome (first “hit”, diverse cancers)
ABL
Nonreceptor tyrosine kinase; Chronic myeloid leukemia, Acute lymphoblastic leukemia
BRAF
RAS signal induction; Melanomas
PTCH
Gorlin syndrome (basal cell carcinoma)