I have a 100 per cent chance of getting cancer due to a rare gene
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- Li-Fraumeni syndrome, caused by a mutation in the TP53 tumor-suppressor gene, gives carriers nearly a 100% lifetime cancer risk with a 50% chance of developing cancer before age 30, according to the source
- The unnamed narrator tested positive for the TP53 mutation in 2022 at age 47, after her sister was first tested following a triple-negative breast cancer diagnosis in 2020
- After her diagnosis, she underwent a preventative double mastectomy, during which surgeons discovered two ductal carcinomas in situ — early-stage cancers — in her left breast
- She joined an Australian clinical trial in Sydney investigating annual whole-body MRI for TP53 mutation carriers; her second scan detected a 9-millimetre benign meningioma in her brain
- Beyond the trial, she undergoes yearly skin checks, annual blood tests, and biennial endoscopy and colonoscopy — polyps have been removed from her bowel, and atypical cells in her oesophagus are being monitored
- Her geneticist believes her mother carried a de novo TP53 mutation that arose spontaneously and was passed to her daughters; neither she nor her sisters have children, eliminating further transmission risk
- Family losses include sister Rebecca, who died of acute lymphoblastic leukaemia in 1994 after a 1990 diagnosis, and the narrator's mother, who died of oesophageal cancer in 2009 after surviving two bouts of breast cancer
Why it matters: Li-Fraumeni syndrome is so rare the narrator's family spent decades connecting their cancers to a single genetic cause — and her case shows how whole-body MRI screening can catch tumors early. For the roughly 1 in 5,000 people carrying TP53 mutations, an annual MRI-plus-endoscopy regimen offers a chance at early detection, but the syndrome remains poorly recognized outside specialist genetics clinics.
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