Cancer is caused by Genetic Mutations

Detecting cancer early using Molecular tests

Increases chances of successful treatment

Using targeted therapy based on the Mutations

Breast, Cervical and other Gynecological Cancers

Triple Negative Breast Cancer

Some of the breast cancer lack the usual markers and are then called Triple Negative. These have other mutations which have implications for treatment and prognosis, essentially predicting the course of the disease and how to treat it.

The simple FNAB (fine needle aspiration biopsy) sample is sufficient to test this for PIK3CA which is found in a third of TNBC and helps therapeutic decision-making.

Ovarian and Endometrial Cancer

While not routinely done for every woman, the presence of cancer-causing mutations in Endometrial and Ovarian cancer can help guide treatment and prognosis.

KRAS, NRAS and PIK3CA are frequently mutated in over 60% of these cancer types. There are studies showing improvement in women with PIK3CA mutations when given Aspirin.

Molecular testing is essential to find out.

Cervical Cancer: Pap smear isn’t enough

One of the most important cancers in women, several countries and guidelines now recommend routine Molecular screening of women to catch high-risk HPV early before it leads to cancer.

HPV types 16 and 18 are the predominant high-risk types causing over 90% of cervical cancer worldwide. Early detection prevents cancer.

Lung Cancer and EGFR Mutations

Targeted therapy: will it work?

ONLY people with mutations in EGFR can use anti-EGFR therapy, because while they show dramatic improvement to treatment, people without EGFR mutations do not benefit and should be treated differently.

In fact, this test is done for all NSCLC patients at diagnosis.

Resistance testing: and alternative drugs

Some carry the T790M mutation which makes them resistant to all first-line anti-EGFR drugs. Others will develop this mutation during the course of treatment. Both will benefit from early diagnosis.

Molecular testing will detect it at a very early stage and suggest timely alternative therapy before it gets too late.

Easy Samples: Pleural effusion or BAL

Many times a surgery or biopsy is not the best option for Lungs.

That’s why we have developed our tests for Pleural effusion and even Bronchoalveolar Lavage (BAL) samples.

Colorectal Cancer and RAS Mutations

Which drug to treat with?

Anti-EGFR therapy is standard of care for colorectal cancer, which is dramatically helpful in treating these patients and extending lives. BUT people with mutations in certain genes such as KRAS and NRAS cannot use anti-EGFR therapy as they are resistant to anti-EGFR antibodies. In the presence of these mutations, alternative therapies will aid the patients much better. Molecular testing is thus essential.

In fact, this test is done for all patients with Colorectal Cancer (CRC) and metastatic CRC routinely before starting treatment.

Predicting response, survival and more

Other genes are also frequently mutated in CRC, such as BRAF and PIK3CA. These mutations are also known resistance factors to anti-EGFR antibody treatment, which is otherwise standard of care.

This extended test will not only allow more accurate treatment decision-making, but also outlines the benefits of even such drugs as Aspirin. For example, aspirin is shown to extend lives but only in patients carrying PIK3CA mutation.

Quickest and Most Sensitive

Molecular testing offers the highest level of accuracy and sensitivity among all diagnostic techniques. And this high sensitivity allows very early diagnosis, which vastly improves treatment success rates.

Routine paraffin-embedded (FFPE) tissue samples are accepted.

For instance, did you know that IHC is not an accepted technique for EGFR detection?

Thyroid Cancer and RAS Mutations

Surgery: to operate or NOT to operate?

Thickened thyroid and mass in the neck region are frequently seen in the population. While most of these are not cancer, many of them have the ability to develop in the future into cancer.

This depends on whether these currently benign tumours have the cancer-causing mutations that can lead to a full-blown cancer tomorrow. As usual, the earlier this is tested and treated, there are great chances of preventing cancer.

Remove the thyroid or Dissect the neck?

The presence of cancer-causing mutations in thyroid tumours, or their absence can be detected only by Molecular testing.

This guides the doctor on the kind and extent of surgery to perform – whether to remove only the tumour, or part of the thyroid (lobectomy), or the entire thyroid (thyroidectomy), or carry out neck dissections?

Testing mutations in BRAF and the RAS genes (HRAS and NRAS) are recommended.

Easy Samples – Comprehensive testing

A simple technique, ultrasound-guided FNAB (fine needle aspiration biopsy), will yield enough sample to test for all mutations in Thyroid cancer.

Intelligent decision-making in this regard begins with mutation testing. Note here that the RAS mutations in Colorectal Cancer and Thyroid cancer can be quite different and the more frequently mutated genes here are HRAS and NRAS (along with BRAF) and not KRAS.

Sarcoma: Bone and Soft-tissue Cancer

Ewing’s Sarcoma

Occurring mostly in children and adolescents, Ewing’s sarcoma and Ewing’s family of tumours including PNET (peripheral neuroectodermal tumour) are characterized by the well-defined translocations t(11;22)(q24;q12) or t(21;22)(q22;q12).

These generate EWSR-FLI1 and EWSR-ERG fusion genes, respectively, that are both tested here offering about 96% coverage in the diagnosis of Ewing’s sarcoma.

Synovial Sarcoma

Synovial sarcoma carries the translocation, t(X;18), leading to the fusion of SS18 (SYT) gene to either SSX1 or SSX2. Distinction among sarcomas is essential to formulate treatment strategy for patients.

Molecular tests for both fusion transcripts are done in our lab offering over 99% coverage of synovial sarcoma diagnosis.


There are predominantly two types of rhabdomyosarcoma: embryonal and alveolar. The latter, alveolar RMS, is characterized by specific translocations; t(2;13) PAX3-FOXO1 and t(1;13) PAX7-FOXO1, that are used in its differential diagnosis.

These fusion genes are detected in over 80% of the cases and the diagnosis of both translocations are done here. All sarcomas are recommended for molecular testing whenever possible to confirm diagnosis for precision medicine.

Pharmacogenetics: Personalized (or) Precision Medicine for Cancer

Irinotecan toxicity

Irinotecan is a frequently used drug in several cancers and leads to high levels of toxicity in some patients. This is because they have a mutation in UGT1A1 gene. In the presence of the mutation, they are unable to metabolize and eliminate the drug safely leading to toxic levels of accumulation within the body.

If you have the mutation, then you will require much lower doses to safely take the drug and prevent complications.

Methotrexate toxicity

Methotrexate is frequently used in Leukemias and other cancers as well as in several autoimmune diseases of the skin and bones, such as arthritis and psoriasis. However, the drug can be highly toxic to several people because of a faulty gene, SLCO1B1. If you have the faulty gene, then you will require much lower doses to avoid toxic complications.

Toxicities seen on Methotrexate include: Hepatotoxicity (liver), Hematotoxicity (blood and circulation), Gastrointestinal toxicity (stomach and intestines) among others.

Thiopurines toxicity

Thiopurines are a class of drugs that include Thioguanine, Azathioprine and Mercaptopurine. Like methotrexate, these drugs are also given for leukemias, other cancers, as well as several autoimmune diseases.

These drugs also cause high levels of toxicity to the body. This is because of a mutation in the gene NUDT15 that is commonly seen in the population. If you have the mutation, your dosage will definitely need to be adjusted for your metabolism.