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Biomarkers

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.

Molecular Testing in Cancer · educational illustration

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
  • Which results actually change treatment?

    Key note inside
    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
  • Limits of testing

    Key note inside

    A test does not equal cure; stage, performance status, and resectability still matter.

  • Do not delay emergencies

    Key note inside

    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

Oncologic surgery6 chapters

Evidence

Scientific sources

Show sources · 4

Guideline bases for when molecular / NGS and MMR-MSI testing change decisions — not “every test for everyone.”

  1. 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. 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. 3. CAP / AMP / ASCO guideline context — MMR/MSI testing in colorectal cancerCollege of American Pathologists (guideline ecosystem) · Current pathology guidelinesOpen source →
  4. 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.