Her Fight is Our Mission

Molecular diagnostics is a highly specialised field that examines DNA, RNA, and other molecular markers to detect cancer, predict its behaviour, and guide precision treatment. It enables our cancer specialists to go beyond traditional pathology and understand the unique genetic profile of each tumour.

A mutation is a change or mistake in our DNA, the genetic code that acts like the instruction manual for cells in our body. Our DNA is made up of genes, which tell our cells how to grow, divide, and function. When a mutation occurs, it can alter how a gene works. Some mutations have no effect, but others can lead to diseases like cancer.   

An actionable mutation is a genetic change in a cancer cell that can be targeted with a specific treatment. These are not just mutations we detect, they are clinically useful — meaning they help guide the choice of therapy, predict response, or monitor resistance. In short, they “inform action”, whether it’s giving a targeted drug, enrolling in a clinical trial, or adjusting treatment plans. 

Actionable Mutations in Cancer 

1. BRCA1 and 2: These genes help repair DNA damage. Mutations increase the risk of breast, ovarian, and other cancers. BRCA mutations may respond to PARP inhibitors. 
2. PIK3CA: Involved in cell growth signaling. Mutations here can drive breast and gynecologic cancers and may respond to PI3K inhibitors. 
3. TP53: Known as the “guardian of the genome,” TP53 suppresses tumours. Mutations are common in many cancers and often indicate poor prognosis but are important for risk stratification. 
4. EGFR: A gene controlling cell division. EGFR mutations are common in lung cancer and some gynecologic cancers and may respond to EGFR-targeted therapies. 
5. KRAS: A gene involved in cell signaling. Mutations, especially in colon and lung cancers, may indicate resistance to certain drugs, though newer KRAS inhibitors are now in development. 
6. CDK4/6: These proteins control cell cycle progression. Tumours with CDK4/6 pathway activation may respond to CDK4/6 inhibitors in breast cancer.

At Apollo Athenaa Women’s Cancer Centre, molecular diagnostics is central to our commitment to personalised cancer care. Whether it's identifying a mutation that makes a cancer more aggressive, or pinpointing a gene that predicts response to targeted therapy, these tests help deliver smarter, safer, and more effective treatment plans.

How It Works

• Biopsy samples or blood samples are collected from the patient.
• Advanced technologies such as PCR (Polymerase Chain Reaction), Next-Generation Sequencing (NGS), FISH (Fluorescence In Situ Hybridisation), and RT-PCR (Reverse Transcription PCR) are used to detect changes in cancer genes. These changes can be mutations, fusions, amplifications, or deletions.
• Results are analysed and interpreted by molecular pathologists and oncologists, with support from a molecular tumour board.
• These insights help guide treatment selection, assess prognosis, and monitor response or resistance.

Commons Tests

1. PCR (Polymerase Chain Reaction): A fast, sensitive method to detect known gene mutations by copying small amounts of DNA. PCR helps identify mutations linked to cancer quickly, even from tiny samples.
    
2. NGS (Next-Generation Sequencing): This high-throughput technique can read thousands of genes at once. It detects a wide range of mutations (like point mutations, insertions, deletions) and helps build a full genetic profile of the tumour, enabling personalised treatment plans. 
    
3. FISH (Fluorescence In Situ Hybridisation): FISH uses fluorescent probes to highlight specific genetic abnormalities, such as gene amplifications or rearrangements. It’s especially useful for detecting chromosomal changes in cancer. 
    
4. RT-PCR (Reverse Transcription PCR): This is a variation of PCR used for analysing RNA (not just DNA). It’s especially useful in identifying gene fusions and expression levels, like in certain leukemias or sarcomas.

Key Features

• Molecular diagnostics detects actionable mutations such as BRCA1 and 2, PIK3CA, TP53, EGFR, and KRAS, relevant to breast and gynecological cancers
• Enables companion diagnostics for targeted therapies like PARP inhibitors or CDK4/6 inhibitors
• Supports hereditary cancer screening through germline testing for patients with strong family histories
• Facilitates monitoring through circulating tumour DNA (DNA fragments shed into the bloodstream by tumour cells) in select cases

Benefits

• Helps select the most effective treatment based on tumour genetics, reducing trial-and-error
• Identifies patients eligible for advanced therapies or clinical trials
• Assesses cancer aggressiveness and risk of recurrence more accurately than traditional markers alone
• Aids in surveillance and early detection of resistance or relapse
• Empowers informed decision-making for both the specialists and patients, with clear genomic insights

At Apollo Athenaa, molecular diagnostics is not just a test, it is the foundation of our precision oncology approach. By revealing the hidden drivers of cancer, it gives women access to targeted, evidence-based treatments that offer new hope and better outcomes.