Cancer develops when genetic and molecular changes disrupt the normal regulation of cell growth, division, and death.
Molecular biomarkers help clinicians diagnose cancer, predict prognosis, select targeted therapies, and monitor treatment response.
1. ctDNA (Circulating Tumor DNA)
What is ctDNA?
Circulating Tumor DNA (ctDNA) consists of small fragments of DNA released by cancer cells into the bloodstream.
These fragments carry tumor-specific
genetic alterations.
Clinical Importance
Early cancer detection
Monitoring treatment response
Detecting minimal residual disease (MRD)
Identifying cancer recurrence before imaging findings
Supporting precision medicine decisions
Applications
Lung Cancer
Breast Cancer
Colorectal Cancer
Ovarian Cancer
Prostate Cancer
2. CTCs (Circulating Tumor Cells)
What are CTCs?
Circulating Tumor Cells are cancer cells that detach from the primary tumor and enter the bloodstream.
Clinical Importance
Assessment of metastatic potential
Monitoring disease progression
Evaluating treatment effectiveness
Prognostic biomarker for advanced cancers
Applications
Breast Cancer
Prostate Cancer
Colorectal Cancer
Lung Cancer
3. EGFR (Epidermal Growth Factor Receptor)
What is EGFR?
EGFR is a protein found on the surface of cells that regulates cell growth and division.
Clinical Importance
Mutations in EGFR can drive uncontrolled cancer growth and are important targets for therapy.
Associated Cancers
Non-Small Cell Lung Cancer (NSCLC)
Glioblastoma
Colorectal Cancer
Targeted Therapies
Osimertinib
Erlotinib
Gefitinib
Afatinib
4. HER2 (Human Epidermal Growth Factor Receptor 2)
What is HER2?
HER2 is a protein involved in cell growth signaling. Overexpression can cause aggressive tumor behavior.
Clinical Importance
HER2 testing helps identify patients who may benefit from HER2-targeted treatments.
Associated Cancers
Breast Cancer
Gastric Cancer
Esophageal Cancer
Targeted Therapies
Trastuzumab
Pertuzumab
Trastuzumab Deruxtecan
5. KRAS
What is KRAS?
KRAS is a gene involved in cellular signaling pathways that control growth and survival.
Clinical Importance
KRAS mutations are among the most common cancer-driving alterations.
Associated Cancers
Colorectal Cancer
Pancreatic Cancer
Lung Cancer
Emerging Therapies
KRAS G12C inhibitors
Personalized targeted treatments
6. BRAF
What is BRAF?
BRAF is a gene that produces a protein involved in cell growth signaling.
Clinical Importance
Mutations, particularly BRAF V600E, can cause excessive cell proliferation.
Associated Cancers
Melanoma
Colorectal Cancer
Thyroid Cancer
Lung Cancer
Targeted Therapies
Dabrafenib
Vemurafenib
Encorafenib
7. ALK (Anaplastic Lymphoma Kinase)
What is ALK?
ALK gene rearrangements can create abnormal proteins that promote cancer growth.
Clinical Importance
ALK-positive tumors often respond exceptionally well to targeted therapies.
Associated Cancers
Non-Small Cell Lung Cancer
Anaplastic Large Cell Lymphoma
Targeted Therapies
Alectinib
Crizotinib
Lorlatinib
8. PD-L1 (Programmed Death Ligand-1)
What is PD-L1?
PD-L1 is a protein that helps cancer cells evade the immune system.
Clinical Importance
PD-L1 testing helps determine eligibility for immunotherapy.
Associated Cancers
Lung Cancer
Bladder Cancer
Head & Neck Cancer
Triple-Negative Breast Cancer
Immunotherapies
Pembrolizumab
Nivolumab
Atezolizumab
9. BRCA1 and BRCA2
What are BRCA Genes?
BRCA1 and BRCA2 help repair damaged DNA and maintain genomic stability.
Clinical Importance
Inherited mutations significantly increase cancer risk.
Associated Cancers
Breast Cancer
Ovarian Cancer
Pancreatic Cancer
Prostate Cancer
Targeted Therapies
PARP Inhibitors
Olaparib
Niraparib
10. MSI (Microsatellite Instability)
What is MSI?
MSI occurs when the DNA mismatch repair system fails, resulting in genetic instability.
Clinical Importance
MSI-High tumors often respond well to immunotherapy.
Associated Cancers
Colorectal Cancer
Endometrial Cancer
Gastric Cancer
11. Tumor Mutational Burden (TMB)
What is TMB?
TMB measures the total number of mutations present within a tumor's genome.
Clinical Importance
Higher TMB may indicate a greater likelihood of response to immunotherapy.
Applications
Treatment selection
Immunotherapy prediction
Precision oncology
12. NTRK Gene Fusion
What is NTRK?
NTRK gene fusions create abnormal proteins that drive cancer growth.
Clinical Importance
NTRK fusions can occur across multiple cancer types and are highly targetable.
Associated Cancers
Solid Tumors
Pediatric Cancers
Thyroid Cancer
Sarcomas
Targeted Therapies
Larotrectinib
Entrectinib
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