A 31-year-old girl, who was till recently looking forward to getting married, found a lump in her right breast and was diagnosed with breast cancer. Unfortunately, the misery didn’t end there as the cancer (Stage IV) had spread to liver and bones too. When she came to us, with lost all hopes, we too thought that we will never be able to cure her, but we promised to fight with her.
After much research and proper consultations, despite various claims made by her friends regarding dangers of chemotherapy and the merits of alternative treatments, she decided to undergo chemotherapy. Biopsy demonstrated that she had triple negative breast cancer.
We started her chemotherapy. Fortunately, she showed positive signs of recovery. While she did have some reversible toxicity, the PET/CT done at the end of the therapy showed almost complete disappearance of cancer. However, it did not mean that the cancer was treated completely; it was not cured, it was certain to come back.
What is the reason for her to have the breast cancer? What else can we do to delay the recurrence of the deadly disease? Such questions kept haunting us?
Looking at her young age and triple negative breast cancer subtype, we wanted to know if there is any underlying genetic basis of the cancer. The most common genetic alteration seen in breast cancer arises from BRCA genes.
BRCA genes are involved in DNA repair and when the defect lies in BRCA gene, faulty DNA synthesis happens, which causes cancer cell formation. This is the same gene that was mutated in Angelina Jolie, the famous Hollywood actor.
Based on the clinical guidelines, despite no family history, we sent her blood samples to be tested for BRCA gene mutation using the latest technology called ‘Next Generation Sequencing’. The results came back as BRCA Mutation Positive. The result suggested that she might have acquired the mutation (inherited) from one of her parents either mother or father. There is also a possibility that she might have developed this mutation (De Novo) during the embryo formation and the parents are perfectly fine. Regardless of the reason for mutation, we were able to explain why she developed the cancer at first place and that too so young.
Further, we also used the genetic information to decide the next course of action. Based on this, she was started on another line of easier to tolerate chemotherapy called PARP inhibitors (Targeted Therapy), which has the potential to harm cancer cells with this mutation without harming the normal cells.
While we are helping her to recover, the case highlighted the importance of technology in the hands of healthcare. It also highlights that with grit comes hope and hope changes everything!