Sydney Woman with TP53 Mutation Joins Annual MRI Trial After Double Mastectomy

Tracy Hutchinson tested positive in 2022 for a rare TP53 gene mutation that confers a near-100 percent lifetime risk of cancer. She underwent a double mastectomy within months of the result, after which two early-stage ductal carcinomas were identified in her left breast. @NewScientist reported that Hutchinson's family history includes multiple cancer diagnoses across generations.

Her older sister Rebecca was diagnosed with acute lymphoblastic leukaemia in 1990 at age 21 and died in 1994. Their mother received breast cancer diagnoses on separate occasions and later died from oesophageal cancer in 2009. Their father was treated for bowel cancer, and another sister was diagnosed with triple-negative breast cancer in 2020.

Hutchinson, who lives in Sydney, joined an Australian clinical trial that tests annual whole-body MRI scans for people with TP53 mutations. Her first scan in 2022 was normal. The second scan detected a 9-millimetre benign meningioma.

She also receives yearly dermatology checks, annual blood tests, and endoscopy and colonoscopy procedures every two years. The mutation causes Li-Fraumeni syndrome, in which the TP53 gene fails to suppress tumour formation. Hutchinson stated that the diagnosis provided answers for the pattern of illness in her family and that she experiences ongoing anxiety about new symptoms.