Chromosomes: A new breakthrough in breast cancer analysis

Breast cancer is the most common cancer among women and one of the leading causes of cancer-related deaths worldwide. In India alone, nearly 100,000 women lost their lives to the disease in 2022. While the risk of breast cancer increases with age, younger women with genetic predispositions, such as BRCA1 and BRCA2 mutations, are also vulnerable. 

These genes normally help repair damaged DNA, preventing cells from becoming cancerous. However, when mutated, they lose this protective function, significantly increasing the likelihood of breast and ovarian cancer. Women with these mutations have a much higher risk of developing breast cancer, often at a younger age. Genetic testing can help detect these mutations early, allowing for preventive measures and personalised treatment.

Doctors typically assess breast cancer using several key factors: tumor size, lymph node involvement, and hormone markers like HER2 status. Tumor size helps determine how advanced the cancer is, while lymph node involvement indicates whether it has started spreading to other parts of the body.  HER2 is a protein that promotes cancer cell growth. Breast cancers that test positive for HER2 tend to be more aggressive but also respond well to targeted treatments. Understanding these factors helps doctors determine each patient’s most effective treatment plan.

While traditional diagnostic methods are essential, researchers are now exploring new ways to improve cancer detection and treatment. One promising area of research focuses on chromosomes—the structures inside cells that carry genetic information. Each human cell contains 46 chromosomes, which regulate cellular functions and determine genetic traits. Scientists have discovered that changes in the physical properties of chromosomes can provide valuable insights into cancer growth and how the disease responds to treatment. 

In our recent study published in JACS Au, we investigated how valproic acid (VPA), an epigenetic drug, affects breast cancer chromosomes. Unlike traditional chemotherapy, epigenetic drugs don’t directly kill cancer cells. Instead, they modify gene activity by switching certain genes on or off. These drugs can reactivate tumor-suppressing genes or silence harmful ones, influencing how cancer develops.

Our research found that VPA alters the dimension, stiffness, and electrical properties of breast cancer chromosomes. To study these changes, we used Atomic Force Microscopy (AFM), a powerful multifunctional nano toolbox. AFM uses an extremely fine tip—thousands of times thinner than a human hair—that moves across a surface, feeling and measuring its structure. This allows scientists to “touch” and examine chromosomes at an incredibly small scale, much like how a blind person reads Braille with their fingers. With AFM, we can detect even the tiniest changes in chromosome shape and texture, providing new insights into cancer behavior. Chromosomal instability is a hallmark of many cancers, making tumors more aggressive and resistant to treatment. By analysing chromosome properties, we can potentially improve early cancer detection, track treatment effectiveness, and predict the likelihood of recurrence. 

This research also has implications for Tumor Treating Fields (TTF), a non-invasive therapy that uses mild electrical fields to slow down cancer cell division. A deeper understanding of chromosome properties could help refine this therapy, making it more effective against cancer cells.

We are now working to validate our findings using patient samples. With AI-driven analysis and integration with electronic health records, this technology has the potential to revolutionise personalised cancer treatment. Breast cancer treatment has come a long way, but there is still much to uncover. Our research on chromosome properties offers a new dimension to understanding how cancer behaves and responds to treatment. By integrating these findings with modern diagnostic tools, AI, and personalised medicine, we can take a step closer to more effective and targeted treatments.

As science advances, innovative approaches like chromosome analysis and AFM could significantly improve early detection, treatment precision, and patient outcomes. With continued research, we hope to turn these breakthroughs into real-world solutions, offering better hope for breast cancer patients.