Molecular Testing for Cancer

 What are the other names used for Molecular testing?

Other names used but mean the same thing as Molecular testing are:

  • Biomarker testing
  • Gene testing 
  • Gene profiling
  • Companion diagnostics
  • Molecular profiling
  • Somatic gene testing


What is molecular testing?

No two cancers are the same. With lots of targeted therapy and immunotherapy being developed for cancer treatment, it has become essential to understand the different types of cancers and their molecular characteristics. This profiling can be done through molecular testing for specific targets present in the cancer cells for which there may be effective drugs. These tests look for alteration in genes or proteins in cancer cells and may be helpful in diagnosis, prognostication, and treatment selection for various cancers. 

In what cancers are these tests useful?

These tests are now routinely done in most cancers to identify if targeted therapy or immunotherapy can be used as a treatment option. Some of the examples of currently used molecular testing are: 

All cancers

MSI / dMMR; Comprehensive somatic gene profiling

Lung cancer

EGFR; ALK; ROS; BRAF; RET; MET; PDL1; TMB;        MSI / dMMR

Breast cancer

ER; PR; HER2; PIK3CA; PDL1; BRCA; HRR genes; Gene recurrence score

Colon cancer and Rectal cancer

KRAS; NRAS; BRAF; HER2; MSI/dMMR

Pancreatic cancer

BRCA; HRR

Ovarian cancer

BRCA; HRR; MSI / dMMR

Head and neck cancer

PDL1, MSI / dMMR

Oesophageal cancer

PDL1; MSI / dMMR

Gastric cancer / GE Junction cancer

HER2; PDL1; MSI / dMMR

Melanoma

BRAF

Gallbladder cancer

FGFR2; HER2; MSI/dMMR 

Brain tumours

BRAF; MGMT

Prostate cancer

BRCA; HRR; MSI / dMMR

Thyroid cancer

BRAF; RET

Uterine or endometrial cancer

ER; PR; HER2; TMB; MSI / dMMR

 

How do they help in cancer treatment?

Specific biomarkers, if present, respond to particular Targeted therapy or immunotherapy. In the absence of these markers, these drugs may not be very effective if given. These molecular test results will help the oncologist decide the best course of treatment for the patient. This approach of giving targeted treatment for a specific molecular alteration is also called precision medicine or personalized treatment. 

It is also important to understand that these molecular alterations are specific to the type of cancer present. The response to any treatment is based on extensive research and clinical trials. A molecular alteration is present does not necessarily mean that a drug relevant for that alteration will work if research and clinical trial data have not demonstrated any effectiveness for that cancer. 

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