What is Hotspot (Somatic) Cancer Mutation Panel?
Somatic Cancer Mutation Panel is a test that sequences the coding region 56 cancer-related genes by Next-generation Sequencing (NGS) technology using genomic DNA extracted from FFPE tumor tissue.
- According to Globocan data from 2018, around 2.25 million people were affected by cancer
- This number is known to grow by 1.15 million every year
- Males are at 9.81% risk to develop cancer before the age of 75 and females at 9.42%
- The most common types of cancer in males include lip, oral cavity, lung, stomach, colorectal, and esophagus, while in females it includes breast, lip, oral cavity, cervix, lung, and gastric cancers (in descending order).
The hotspot (somatic) cancer mutation panel covers genes and mutations associated with different cancer types such as breast, kidney, prostate, brain, lung, ovarian, pancreatic, colon, and other cancer types.
Why do you need the test?
To screen for hotspot mutations across multiple genes associated with targeted therapy:
- Enables personalized management for any given cancer based on the mutation spectrum
- Provides new molecular drug targets
- Provides clues to the underlying biology of cancer
- Elucidates the primary genetic changes driving tumorigenesis
Who needs to get tested?
Patients diagnosed with any type of solid tumor at any stage:
- Wherein adequate evidence has been documented for multiple oncogenes / tumor suppressors associated with clinical significance
- Wherein targeted therapy or prognostication is required to understand the tumor’s response to standard of care therapy
- To understand the mechanism of resistance when tumors fail to respond to first line / any lines of therapy
- On an investigatory mode, to understand the molecular drivers, this panel can also be used for profiling malignant tumors of unknown primary origin. (completely at the discretion of the treating clinician)
The use of NGS as technology poses various advantages. NGS panels are tests that analyze multiple genes simultaneously. This test:
- Costs much lower than traditional sequencing methods
- Has a higher likelihood of identifying a causative mutation
- Reduces the need for multiple follow-ups and additional testing
ABL1, AKT1, ALK, APC, ATM, BRAF (inclusive of v600E), CDH1, CDKN2A, CSF1R, CTNNB1, DDR2, DNMT3A, EGFR, ERBB2, ERBB4, EZH2, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, FOXL2, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, IDH2, JAK2, JAK3, KDR, KIT, KRAS, MAP2K1/MEK1, MET, MLH1, MPL, MSH6, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, TSC1, VHL.
Somatic Cancer Mutation Panel
Breast cancer is the most common type of cancer affecting women across the globe.
63-year-old Santosh Khurrana (name changed) felt the symptoms related to lung cancer and went for a consultation with Dr. Shyam Aggarwal.
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