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Cancer Genomics

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BRCA1/BRCA2

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Genes associated with DNA damage repair; mutations lead to genomic instability; PARP inhibitors are used as targeted therapy.

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FGFR

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Fibroblast growth factor receptors involved in cell proliferation; activating mutations and fusions can drive cancer; targeted by FGFR inhibitors like BGJ398.

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HIF (Hypoxia-inducible factors)

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Transcription factors that respond to low oxygen levels; upregulate angiogenesis and other survival pathways in tumors; inhibitors are being researched.

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CDK4/6

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Cyclin-dependent kinases involved in cell cycle progression; amplifications or overexpression can lead to uncontrolled cell growth; inhibitors like palbociclib have therapeutic use.

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KRAS

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An oncogene encoding a GTPase; mutations often result in constitutive signaling for cell division; therapeutic targets include MEK inhibitors and KRAS G12C-specific inhibitors.

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VEGF

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Vascular endothelial growth factor involved in angiogenesis; contributes to tumor growth and metastasis; targeted by angiogenesis inhibitors like bevacizumab.

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PTEN

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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.

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TP53

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Tumor suppressor gene, often mutated leading to loss of cell cycle control; targeted therapies include reactivation of p53 pathway, with molecules like APR-246.

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MYC

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Transcription factor that regulates gene expression; overexpression leads to increased cell proliferation; therapeutic strategies include bromodomain inhibitors.

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EGFR

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Epidermal growth factor receptor involved in cell proliferation; targeted therapies include EGFR tyrosine kinase inhibitors such as gefitinib.

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PDL1 & PD1

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Immune checkpoint proteins that inhibit anti-tumor immune response; overexpression helps tumors evade immune detection; immune checkpoint inhibitors like nivolumab are used.

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HER2/neu

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Oncogene encoding a receptor tyrosine kinase; overexpression is common in breast cancer; targeted therapies include monoclonal antibodies like trastuzumab.

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Bcl-2

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Anti-apoptotic protein that prevents cell death; overexpressed in many cancers; targeted with BH3 mimetics like venetoclax.

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mTOR

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Central component of the PI3K/AKT/mTOR pathway; promotes cell growth and proliferation; inhibitors like rapamycin can suppress tumor progression.

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Notch

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Signaling pathway involved in cell differentiation; dysregulation may result in uncontrolled growth; gamma-secretase inhibitors are potential therapeutic agents.

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Wnt/β-catenin

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Pathway important in cell proliferation and differentiation; stabilized β-catenin promotes transcription of growth factors; inhibitors of Wnt/β-catenin signaling are being developed.

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MMR (Mismatch Repair)

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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.

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TERT

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Telomerase reverse transcriptase, maintains telomere length; often reactivated in cancers; potential target with telomerase inhibitors.

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BCR-ABL

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Fusion gene resulting from the Philadelphia chromosome; drives chronic myeloid leukemia; targeted by tyrosine kinase inhibitors like imatinib.

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ALK

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Anaplastic lymphoma kinase involved in cell growth; rearrangements can form active oncogenic fusions; ALK inhibitors like crizotinib are effective therapies.

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