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.

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.

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.

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.

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.

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.

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.

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.

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 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.

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 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.