Sydney Woman Tests Positive for TP53 Mutation After Family Cancer History

Tracy Hutchinson tested positive in 2022 for a rare TP53 gene mutation that causes Li-Fraumeni syndrome. New Scientist reported that she was 47 at the time and had already lost multiple relatives to cancer. Her older sister Rebecca received a diagnosis of acute lymphoblastic leukaemia in 1990 at age 21.

Their mother was diagnosed with breast cancer during Rebecca's chemotherapy. Rebecca died in 1994. Their father was later diagnosed with bowel cancer, and their mother received a second breast cancer diagnosis followed by oesophageal cancer in 2009, from which she died six weeks after recurrence.

That sister tested negative for BRCA1 and BRCA2 mutations but positive for the TP53 mutation and Li-Fraumeni syndrome. Hutchinson then underwent testing and received the same positive result.

Within months she had a double mastectomy. Pathology revealed two ductal carcinomas in situ in her left breast. She joined an Australian clinical trial of annual whole-body MRI for people with TP53 mutations.

Her first scan in 2022 was normal; the second detected a 9-millimetre benign meningioma. Hutchinson also undergoes yearly dermatology checks, annual blood tests, and biennial endoscopy and colonoscopy. Polyps have been removed from her bowel and atypical cells identified in her oesophagus.

Her geneticist stated that their mother may have carried a de novo TP53 mutation passed to Hutchinson and her sisters. Neither woman has children. "I actually felt at peace with it," Hutchinson said of her diagnosis.