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Cancer Genomics
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BRCA1/BRCA2
Genes associated with DNA damage repair; mutations lead to genomic instability; PARP inhibitors are used as targeted therapy.
FGFR
Fibroblast growth factor receptors involved in cell proliferation; activating mutations and fusions can drive cancer; targeted by FGFR inhibitors like BGJ398.
HIF (Hypoxia-inducible factors)
Transcription factors that respond to low oxygen levels; upregulate angiogenesis and other survival pathways in tumors; inhibitors are being researched.
CDK4/6
Cyclin-dependent kinases involved in cell cycle progression; amplifications or overexpression can lead to uncontrolled cell growth; inhibitors like palbociclib have therapeutic use.
KRAS
An oncogene encoding a GTPase; mutations often result in constitutive signaling for cell division; therapeutic targets include MEK inhibitors and KRAS G12C-specific inhibitors.
VEGF
Vascular endothelial growth factor involved in angiogenesis; contributes to tumor growth and metastasis; targeted by angiogenesis inhibitors like bevacizumab.
PTEN
Tumor suppressor gene involved in cell cycle control; loss-of-function mutations lead to PI3K/AKT pathway activation; mTOR inhibitors are studied as targeted therapies.
TP53
Tumor suppressor gene, often mutated leading to loss of cell cycle control; targeted therapies include reactivation of p53 pathway, with molecules like APR-246.
MYC
Transcription factor that regulates gene expression; overexpression leads to increased cell proliferation; therapeutic strategies include bromodomain inhibitors.
EGFR
Epidermal growth factor receptor involved in cell proliferation; targeted therapies include EGFR tyrosine kinase inhibitors such as gefitinib.
PDL1 & PD1
Immune checkpoint proteins that inhibit anti-tumor immune response; overexpression helps tumors evade immune detection; immune checkpoint inhibitors like nivolumab are used.
HER2/neu
Oncogene encoding a receptor tyrosine kinase; overexpression is common in breast cancer; targeted therapies include monoclonal antibodies like trastuzumab.
Bcl-2
Anti-apoptotic protein that prevents cell death; overexpressed in many cancers; targeted with BH3 mimetics like venetoclax.
mTOR
Central component of the PI3K/AKT/mTOR pathway; promotes cell growth and proliferation; inhibitors like rapamycin can suppress tumor progression.
Notch
Signaling pathway involved in cell differentiation; dysregulation may result in uncontrolled growth; gamma-secretase inhibitors are potential therapeutic agents.
Wnt/β-catenin
Pathway important in cell proliferation and differentiation; stabilized β-catenin promotes transcription of growth factors; inhibitors of Wnt/β-catenin signaling are being developed.
MMR (Mismatch Repair)
Pathway for repairing DNA replication errors; loss of function leads to microsatellite instability; use of checkpoint inhibitors is a therapeutic strategy for MMR-deficient tumors.
TERT
Telomerase reverse transcriptase, maintains telomere length; often reactivated in cancers; potential target with telomerase inhibitors.
BCR-ABL
Fusion gene resulting from the Philadelphia chromosome; drives chronic myeloid leukemia; targeted by tyrosine kinase inhibitors like imatinib.
ALK
Anaplastic lymphoma kinase involved in cell growth; rearrangements can form active oncogenic fusions; ALK inhibitors like crizotinib are effective therapies.
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