Tracy Hutchinson has a rare mutation of the TP53 gene
Tracy Hutchinson
I began to suspect something unusual was happening when several family members were diagnosed with cancer simultaneously. In 1990, my older sister Rebecca, at 21, was diagnosed with acute lymphoblastic leukemia, while I was 14. As she endured intensive chemotherapy, my mother discovered she had breast cancer.
Rebecca succumbed to her illness in 1994. A few years after, my father was diagnosed with bowel cancer. During his treatment, my mother was diagnosed with cancer in her other breast, which she survived. However, in 2009, she faced oesophageal cancer, underwent major surgery, and passed away six weeks later when the cancer returned.
By 2020, my other sister was diagnosed with aggressive triple-negative breast cancer. It prompted us to investigate further. She tested negative for the BRCA mutations, which are known to increase breast cancer risk. Subsequently, she was tested for a mutation in the TP53 gene, a rarer and more severe mutation. Women with this mutation face nearly a 100 percent chance of developing cancer in their lifetime, with a 50 percent risk before age 30. This condition, Li-Fraumeni syndrome, implies that the TP53 gene, typically a cancer suppressor, is ineffective.
When my sister was offered the test, I wondered, “What is Li-Fraumeni syndrome?” It’s not widely known. Her positive result devastated her, and since it can be hereditary, I was advised to take the test as well. I chose to proceed to support my sister in her journey.
In 2022, at 47, I took the test, and it confirmed the mutation. Surprisingly, I felt at ease, as I finally understood the root of my family’s health challenges. It’s a deeply personal matter; my brother opted not to get tested.
Receiving this diagnosis transformed my life. Living with Li-Fraumeni syndrome means it’s a constant presence in your thoughts. Shortly after learning of my condition, I underwent a preventative double mastectomy, during which two early-stage cancers, ductal carcinomas in situ, were discovered in my left breast.
Residing in Sydney allowed me to join an Australian clinical trial exploring the use of annual whole-body MRI scans to detect tumors in individuals with TP53 or other cancer-causing gene mutations. In 2022, my first scan revealed nothing unusual, but the following year, they detected a 9-millimeter meningioma, a benign tumor in the brain’s lining. Although benign, it was a significant concern for me.
I now undergo annual whole-body MRIs each November, with anxiety, or “scanxiety,” building from July. Each year, I wonder if this will be the year that changes everything. Yet, the study offers reassurance, as it aims to catch cancers early when they are still treatable. My sister, who survived breast cancer, also has yearly MRIs.
Beyond the whole-body MRI, I have yearly dermatologist appointments and blood tests. Every two years, I also have an endoscopy and colonoscopy. They have removed polyps from my bowel, which could have become cancerous, and are monitoring atypical cells in my oesophagus. I’m vigilant about any unusual sensations in my body, such as a sore shoulder, fearing it could be something significant.
My geneticist suggests that my mother might have had a spontaneous mutation, or de novo mutation, in her TP53 gene, which she passed to me and my sisters. Neither my sister nor I have children, so we won’t pass it on.
My partner has been incredibly supportive. After learning about my diagnosis, he encouraged me to take whatever steps were necessary. I decided against breast reconstruction after my mastectomy, fearing I looked abnormal, but he reassured me, saying, “Your scars tell your battle.”
I strive to maintain a positive outlook, recognizing that everyone has their own challenges, whether a chronic illness, injury, or depression. My sister-in-law recently experienced a stroke. We all face difficulties, visible or not, and should show compassion to one another. Life isn’t always perfect.
As told to Alice Klein
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