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Somatic Cancer Mutation

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Somatic Cancer Mutation

Cancer in India*

There are around 2.5 million people estimated to be living with cancer

  • For every 2 women newly diagnosed with breast cancer, one woman dies of it in India
  • As many as 2,500 people die every day due to tobacco-related diseases
  • Cancers of oral cavity and lungs in males and of cervix and breast in females account for over 50% of all cancer deaths
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Men

ORAL CAVITY

LUNG

STOMACH

COLORECTUM

PHARYNX

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Women

BREAST

CERVIX

COLORECTUM

OVARY

ORAL CAVITY

In its projection, the Indian Council of Medical Research (ICMR) said in 2016. “India is likely to have over 17.3 lakh new cases of cancer and over 8.8 lakh deaths due to cancer by 2020 with cancers of breast, lung and cervix topping the list”.

5-10%
Inherited
15-20%
Familial
80%
Sporadic

What are acquired or somatic mutations?

  • Most cancers are caused by acquired mutations
  • These mutations cannot be inherited
  • Do not occur in reproductive cells (egg or sperm cells)
  • Are much more common than inherited mutation
  • An individual with a germline mutation may also develop a somatic mutation

Advantages of tumor DNA analysis

Discovery and knowledge of somatic mutations in a cancer:

  • Enables molecular targeted treatment
  • Provides clues to the underlying biology of cancer
  • Elucidates the primary genetic changes driving tumorigenesis
  • Provides new molecular drug targets

When to suggest for the somatic mutation panel?

  • Patients with solid tumors
  • Patients with aggressive solid tumors
  • Patients with metastatic solid tumors
  • Patients with a tumor of unknown primary origin
  • Patients with solid tumors who have failed first-line therapy or who are non-responsive to first-line therapy
When to suggest for the somatic mutation panel?

Next Generation Sequencing and its benefits

  • NGS panels are tests that analyse multiple genes simultaneously
  • It is done at a much lower cost than traditional sequencing methods
  • Has a higher likelihood of identifying a causative mutation
  • Reduces the need for multiple follow-ups and additional testing

Next Generation Sequencing (NGS) at MedGenome

Using genomic DNA extracted from blood, the coding regions of all the genes are captured and sequenced simultaneously by NGS technology on an Illumina platform. The sequence data that is generated is aligned and analyzed for sequence variants.

MedGenome somatic cancer mutation (hotspot tumor) panel

Detects hotspot mutation in 56 cancer-related genes

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

Ex: Cancers of the lung, brain, kidney, colon, stomach, liver, pancreas etc

Test sample requirements

5-10 μm thickness from the FFPE tumor tissue accompanied with pathology report and oncology report in case of a relapse testing.

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5-10 μm thickness from the FFPE tumor tissue
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Pathology/Oncology report

How long does it take to get the results?

It will take approximately six weeks to complete the test and give the results.

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MedGenome’s commitment to sharing knowledge related to Genes and Genomics

As a leader in providing genomics testing solutions in India, MedGenome recognizes that it’s imperative for a clinician to be enabled with the most accurate information and the deepest insights for providing better treatment outcomes. Through our GeKNOW hub, we give you the best and latest rich sets of information, you can learn about, and capitalize on the tremendous possibilities that our solutions can help you with.

Free Genetic Counselling

Free Genetic Counselling

Actia offers all your patients FREE pre & post-test genetic counselling with our expert and certified genetic counsellors.

Best available support for your patients and families via

  • Latest technologies
  • Helpful customer service
  • Clear result interpretation
  • Counselling sessions with our Genetic Counsellors
Dial 1800 103 3691
diagnostics@medgenome.com

Our representative will get in touch with you within 24 hours to help you with the registration. You can start prescribing the test right away and help your patients gain clarity about their genetic health.

Talk to our genetic experts for free today or reach us

Our certified genetic specialists are available right now to discuss your queries before, during and after screenings.

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