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Heme/Onc genes
Genes that participate in cancers
48
Medical
Graduate
11/15/2009

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Cards

Term
PDGFB (platelet Derived Growth Factor- Beta)
Definition
Growth factor. Mutation leads to astrocytoma, osteosarcoma
Term
HST1
Definition
Fibroblast growth factor. Mutation leads to breast cancer, melanoma, and stomach cancer
Term
TGFA
Definition
Transforming growth factor- alpha. Upregulated in astrocytoma and hepatocellular carcinoma
Term
ERB-B1
Definition
EGF and TGF-alpha receptor. Mutation and over-expression can lead to glioblastoma
Term
RET
Definition
Growth factor receptor. Mutation leads to MEN2 syndrome
Term
ERBB2 (HER2/NEU)
Definition
Tyrosine kinase growth factor receptor, involved in cell proliferation. Over expression leads to breast and ovarian cancer. Treat with Traztusumab (Herceptin, a human mAb).
Term
KIT
Definition
Growth factor receptor for stem-cell factor
Term
H/N/KRAS
Definition
GTPase important for signal transduction, especial to Raf and Pi3-K.
Term
ABL
Definition
Non-receptor Tyrosine Kinase, involved in signal transduction. Mutated in t(9:22) resulting in Philadelphia chromosome (CML)
Term
B-catenin
Definition
Wnt signal transducer, related to cadherin adhesion proteins
Term
C-MYC
Definition
Nuclear regulator protein. Deregulated in many cancers. Involved in t(8:14) of Burkitt's Lymphoma
Term
N-MYC
Definition
Nuclear regulatory protein. Mutation involved in neuroblastoma, small cell carcinoma
Term
L-MYC
Definition
Nuclear Regulatory Protein
Term
Cyclin D
Definition
Cell cycle regulator (controls progression through cell cycle) and dysregulated in cancer.
Term
CDK4
Definition
Important for cell cycle G1 phase progression. Forms Cyclin D-CDK4 complex to phosphorylate Rb, and free E2F for transcription
Term
MDM2
Definition
Cell cycle regulator- negatively regulates P53 by marking it for ubiquination
Term
Telomerase
Definition
Active in 95% of cancers
Term
VEGF (vascular endothelial growth factor)
Definition
Promotes angiogenesis and leakiness of vasculature
Term
HIF-1 (hypoxia inducible factor)
Definition
Promotes angiogenesis by inducing VEGF transcription
Term
Thrombospondin-1
Definition
Anti-angiogenic and involved in cell adhesion
Term
TGF-Beta
Definition
Anti-growth factor. May induce apoptosis. Regulates cell cycle and signals via SMAD pathway
Term
E-Cadherin
Definition
Tumor suppressor gene. Loss leads to invasion and metastasis
Term
NF-1
Definition
Tumor suppressor gene, inhibits RAS and CDKi-p21. Loss leads to neurofibromatosis
Term
NF-2
Definition
Tumor suppressor gene. Loss leads to acoustic schwanoma
Term
APC/B-catenin
Definition
Tumor suppressor gene. Loss leads to HNPCC and colon cancer
Term
SMAD2 and SMAD4
Definition
Tumor suppressor gene that modulates TGF-beta signals. Acts as a transcription factor.
Term
RB1 (retinoblastoma- Ch. 13)
Definition
Tumor suppressor gene. Inhibits cell cycle at G1 by binding transcription factor E2F (when hypomethylated). Methylated by Cyclin D-CDK4 complex, also disabled by HPV protein E6.
Term
PTEN
Definition
Tumor suppressor gene. Phosphatase that regulates the cell cycle.
Term
P53
Definition
Tumor suppressor gene, regulates cell cycle, does DNA repair, and can signal apoptosis. Loss leads to Li Fraumeni syndrome (multiple cancers).
Term
WT1
Definition
Tumor suppressor gene. Wilm's Tumor
Term
P16/INK4a
Definition
Tumor suppressor protein
Term
BRCA1/BRCA2
Definition
Tumor suppressor genes involved in DNA repair (mismatch synthesis). Account for 3-5% of breast cancers
Term
MSH2
Definition
Tumor suppressor, does gene repair. Loss leads to HNPCC
Term
CD95 (FAS)
Definition
Apoptotic cell receptor
Term
BAX
Definition
Pro-apoptotic, induced by P53
Term
Caspaces
Definition
Proteins that execute apoptosis. Usually in mitochondria.
Term
BCL-2
Definition
Anti-apoptotic. t(14:18) mutation leads to follicular lymphoma (cells won't die)
Term
Pi-3K
Definition
anti-apoptotic
Term
ATM
Definition
DNA repair gene, loss leads to Ataxia Telangectasia
Term
FLT3
Definition
Growth factor receptor, important for lymphocyte development
Term
HGF (hepatocyte growth factor)
Definition
Growth factor for embryogenesis, wound repair, hematopoiesis
Term
FGF-3 (fibroblast growth factor)
Definition
Growth factor, involved in angiogenesis and wound healing
Term
Xeroderma pigmentosum
Definition
Condition due to a defect in nucleotide excision repair. UV light creates thymidine dimers in DNA
Term
HNPCC (hereditary nonpolyposis colorectal cancer)
Definition
Due to a defect in mismatch repair. 80% lifetime risk of colorectal cancer. Most common cancer predisposition syndrome
Term
Ataxia Telangectasia
Definition
Due to a mutation in the ATM gene (which senses dsDNA breaks)
Term
Bloom Syndrome
Definition
Causes developmental defects. Due to mutation in BLM helicase involved in homologous recombination- short stature, rash develops after sun exposure, distinct facial features
Term
Fanconi anemia
Definition
Due to mutation of several genes involved in DNA break repair, including BRCA2
Term
Li Fraumeni
Definition
Due to mutated P53 (only takes loss of one allele). Results in many different types of cancer. Autosomal dominant
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