Rare Gene Increases Cancer Risk: 100% Chance of Developing Cancer Explained

When several family members were diagnosed with cancer simultaneously, I began to suspect a hereditary issue. In 1990, my sister Rebecca and I were both diagnosed with acute lymphoblastic leukemia—she was 21, and I was just 14. During her intense chemotherapy treatment, our mother was also diagnosed with breast cancer.

Tragically, Rebecca passed away in 1994, and not long after, my father was diagnosed with colon cancer. As he was receiving treatment, my grandmother was diagnosed with cancer in her other breast, which she survived, only to be later diagnosed with esophageal cancer in 2009. Despite undergoing major surgery, my father’s cancer recurred, and he succumbed to the disease six weeks later.

In 2020, when my other sister was diagnosed with rapidly progressing triple-negative breast cancer, I thought, “Oh my God, something is definitely wrong.” She was tested for the BRCA mutation and results showed no BRCA1 or BRCA2 mutations. Subsequently, she was tested for a rarer mutation in the TP53 gene. This mutation is linked to a significantly heightened cancer risk. Women with this mutation have an almost 100% likelihood of developing some form of cancer during their lifetime. This genetic condition is known as Li-Fraumeni syndrome, which indicates that the TP53 genes, responsible for tumor suppression, are not functioning properly.

When my sister suggested I get tested, I questioned, “What is Li-Fraumeni syndrome?” I had never heard of it before. Discovering my positive test result was emotionally devastating, but I agreed to undergo testing to support my sister during this challenging time.

In 2022, at the age of 47, I received my positive diagnosis. Surprisingly, I felt a sense of comfort knowing that I had answers regarding the struggles my family faced. However, this revelation was deeply personal; for example, my brother opted not to be tested.

After my diagnosis, my life transformed completely. With Li-Fraumeni syndrome, thoughts of cancer are ever-present. Within months of learning my result, I underwent a preventive double mastectomy. Early-stage cancer, specifically ductal carcinoma in situ, was detected in my left breast after the surgery.

Living in Sydney, I enrolled in an Australian clinical trial investigating the use of annual full-body MRIs for early tumor detection in individuals with TP53 mutations or other cancer-associated genes. In 2022, I welcomed my first baby, but during my second year, a 9-millimeter meningioma was discovered—fortunately benign but nonetheless terrifying.

I receive full-body MRIs annually, but my anxiety peaks around July, as I wonder if this will be the year things take a turn for the worse. Participating in this study provides some reassurance, as it aims to catch cancer at an early, treatable stage. My sister, who survived breast cancer, also undergoes yearly MRIs.

In addition to full-body MRIs, I have annual skin exams and blood tests managed by a dermatologist. Bi-yearly endoscopies and colonoscopies are essential; during one procedure, they discovered and removed a polyp in my intestine and atypical cells in my esophagus, which are now closely monitored. I’m vigilant about any irregularities in my body—any sudden shoulder pain sends my anxiety into overdrive.

My geneticist speculated that our mother may have had a spontaneous mutation in the TP53 gene, instead of it being inherited. As neither my sister nor I have children, the risk of passing this mutation on is nonexistent.

My partner has been incredibly supportive. After my diagnosis, he encouraged me to pursue whatever necessary actions I needed to take. When I opted for a double mastectomy without reconstruction, he reassured me, saying my scars tell the story of my journey.

I strive to maintain a positive outlook despite the challenges, aware that everyone faces their own struggles, whether chronic illnesses or hidden mental health battles. For instance, my sister-in-law recently suffered a stroke. We each carry our own burdens, visible or not, and it’s crucial to be compassionate toward one another; life isn’t always picture-perfect.

As told by Alice Klein