Written and medically reviewed by: Assoc. Prof. Cengiz Dibekoğlu, MD, General SurgeryLast updated:
Molecular Testing in Cancer
Biomarkers that guide therapy — not good/bad labels
More tests are not always better — the question comes first.
Molecular and biomarker tests describe tumor or hereditary features that guide targeted drugs, immunotherapy, surgical sequencing, and family screening. Examples include MMR/MSI, RAS/BRAF, HER2, PD-L1, NTRK fusions, and CLDN18.2 protein expression — not all are “mutations.” Somatic tumor testing answers treatment questions; germline testing answers family-risk questions — mixing them confuses patients. A positive targetable result does not erase stage, fitness, or surgical judgment. Ordering panels without a clinical question wastes time and can delay necessary care.
Educational schematic. Some structures may be simplified or emphasized for clarity; not an exact anatomical depiction.
© Cengiz Dibekoğlu — illustrative; not for unauthorized use
Six terms before you read further
- Germline
- Inherited DNA in every cell — answers family-risk questions
- Somatic
- Change only in tumor tissue — answers treatment questions
- Biomarker
- A molecular feature that may select a therapy path
- MMR/MSI
- Repair-pathway status; may open immunotherapy and Lynch work-up
- Targeted therapy
- Drugs matched to a specific biomarker
- NGS (panel)
- Sequencing many genes at once
Figure summary
- Hero figure: molecular testing in cancer as an educational overview.
- Related figures explain why biomarkers and panel testing guide oncology decisions.
Educational figures
Tap a figure to enlarge. These English illustrations mirror the Turkish hub gallery for this condition.
Overview Educational schematic. Some structures may be simplified or emphasized for clarity; not an exact anatomical depiction.
© Cengiz Dibekoğlu — illustrative; not for unauthorized use
Colorectal Educational schematic. Some structures may be simplified or emphasized for clarity; not an exact anatomical depiction.
© Cengiz Dibekoğlu — illustrative; not for unauthorized use
Gastric Educational schematic. Some structures may be simplified or emphasized for clarity; not an exact anatomical depiction.
© Cengiz Dibekoğlu — illustrative; not for unauthorized use
Breast Educational schematic. Some structures may be simplified or emphasized for clarity; not an exact anatomical depiction.
© Cengiz Dibekoğlu — illustrative; not for unauthorized use
Pathway selectors
Results choose roads; they are not moral labels.
NTRK fusions
Rare; may open TRK inhibitor options.
CLDN18.2
Protein expression — especially relevant in gastric cancer.
Germline vs somatic
Family-risk testing is a different conversation.
What to know
Six terms before you read further
Reports use many abbreviations. Start with these six — detail below is layered, not removed.
- Germline: inherited DNA in every cell — answers family-risk questions
- Somatic: change only in tumor tissue — answers treatment questions
- Biomarker: a molecular feature that may select a therapy path
- MMR/MSI: repair-pathway status; may open immunotherapy and Lynch work-up
- Targeted therapy: drugs matched to a specific biomarker
- NGS (panel): sequencing many genes at once
- Key note inside
Which results actually change treatment?
Note: A negative result is also information: that drug path is not appropriate.A positive result rarely cancels urgent surgery by itself; most decisions land at the systemic-therapy step. Quick map:
- Colorectal dMMR/MSI-H → immunotherapy; Lynch pathway
- Colorectal RAS/BRAF → anti-EGFR eligibility; prognosis context
- Gastric HER2 / CLDN18.2 / PD-L1 → advanced-disease drug selection
- Breast ER/PR/HER2 → endocrine, anti-HER2, chemotherapy sequencing
- Pancreas germline BRCA/PALB2 → platinum sensitivity, PARP options; family screening
- Rare NTRK fusion, BRAF V600E, MSI-H (any tumor) → targeted options when approved
MMR / MSI
Can open immunotherapy discussions and Lynch evaluation. Often considered early in colorectal diagnosis.
Targetable changes are different classes
Mutations, amplifications, fusions, and protein expression are not interchangeable words.
- RAS/BRAF → often mutations
- HER2 → amplification/expression
- NTRK → usually fusion
- CLDN18.2 → protein expression
- Key note inside
Limits of testing
A test does not equal cure; stage, performance status, and resectability still matter.
- Key note inside
Do not delay emergencies
Necessary emergency surgery is not postponed waiting for every molecular result; systemic steps can follow when results return.
How we use reports together
Pathology, imaging, and biomarkers are read as one story in tumor board — not as competing scores.
What happens next
Biomarkers answer specific treatment and hereditary questions
- 1
Molecular Testing Overview
Biomarkers answer specific treatment and hereditary questions
Read this chapter - 2
Molecular Testing in Colorectal Cancer
MMR/MSI, RAS/BRAF, and selected HER2/NTRK contexts
Read this chapter - 3
Molecular Testing in Gastric Cancer
HER2, PD-L1, CLDN18.2, and MSI/MMR timing
Read this chapter - 4
Molecular Testing in Breast Cancer
ER/PR/HER2 foundations and germline BRCA framework
Read this chapter - 5
Molecular Testing in Pancreatic Cancer
Germline testing is discussed for most patients; tumor profiling in advanced disease
Read this chapter - 6
Hereditary Cancers
Lynch, BRCA, FAP, CDH1, and genetic counseling in surgical patient language
Read this chapter
Evidence
Scientific sources
Show sources · 4Guideline bases for when molecular / NGS and MMR-MSI testing change decisions — not “every test for everyone.”
Evidence
Scientific sources
- 1. Recommendations for the use of next-generation sequencing (NGS) for patients with advanced cancer in 2024 — ESMO Precision Medicine Working GroupESMO · 2024 · DOI: 10.1016/j.annonc.2024.04.005Open source →
- 2. Metastatic colorectal cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-upEuropean Society for Medical Oncology (ESMO) · 2023 · DOI: 10.1016/j.annonc.2022.10.003Open source →
- 3. CAP / AMP / ASCO guideline context — MMR/MSI testing in colorectal cancerCollege of American Pathologists (guideline ecosystem) · Current pathology guidelinesOpen source →
- 4. NCCN Clinical Practice Guidelines in Oncology: Colon CancerNational Comprehensive Cancer Network (NCCN) · Current versionOpen source →
Last reviewed: 21 August 2026. Links go to publisher pages.
Appointment / info
Bring pathology reports — we can map which tests matter for your tumor type and stage.
This page is for education. It is not medical advice and does not replace a visit with your physician.
Medical editor: Assoc. Prof. Cengiz Dibekoğlu, MD · English patient-education hub.