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Cancer Genomic Profiling and NGS

Comprehensive sequencing to guide targeted and tumor-agnostic therapy

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Onkoloji department. Book Appointment →

What is Cancer Genomic Profiling and NGS?

Cancer genomic profiling uses next-generation sequencing to detect somatic and germline alterations in DNA and RNA from tumor tissue or blood. Comprehensive panels assess hundreds of cancer-related genes for point mutations, copy number changes, fusions, and tumor signatures.

Detected alterations may match patients to approved targeted therapies, tumor-agnostic indications (NTRK fusions, MSI-H, TMB-high, BRAF V600E with cobas), or clinical trials. Liquid biopsy with circulating tumor DNA is increasingly used when tissue is insufficient or repeat sampling is impractical.

Result interpretation requires molecular tumor boards and integration with histology, prior treatment, and clinical context. Variants of uncertain significance, tumor heterogeneity, clonal hematopoiesis, and assay limitations require careful evaluation.

Symptoms

Used to select therapy in advanced and recurrent cancers
Performed on tumor tissue or blood (liquid biopsy)
Detects gene mutations, fusions, copy changes, signatures
Reports actionable alterations and clinical trial matches
Repeat testing may be needed at progression

Risk Factors

Most beneficial in advanced solid tumors and refractory cancers
Lung, breast, colorectal, prostate, melanoma, sarcoma have many actionable targets
Pediatric tumors and rare cancers benefit from comprehensive panels
Germline findings may indicate hereditary cancer syndromes

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • At diagnosis of advanced solid tumor
  • When standard therapy options are exhausted
  • When tumor-agnostic therapy may apply
  • When considering clinical trial enrollment

Treatment Methods

01
Comprehensive genomic profiling with multi-gene NGS panel
02
Liquid biopsy for circulating tumor DNA when tissue is limited
03
Germline testing when hereditary syndrome is suspected
04
Molecular tumor board interpretation of results
05
Targeted therapy selection based on actionable alterations
06
Tumor-agnostic therapy for NTRK, MSI-H, TMB-high, BRAF
07
Clinical trial matching for novel targeted agents

Which Department to Visit?

You can visit our Onkoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Onkoloji Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.