Australian Woman Tests Positive for TP53 Mutation After Family Cancer Cases

Tracy Hutchinson tested positive in 2022 for a rare TP53 gene mutation that causes Li-Fraumeni syndrome. @NewScientist reported that the result followed years of multiple cancers in her immediate family. Hutchinson was 14 in 1990 when her older sister Rebecca received a diagnosis of acute lymphoblastic leukaemia at age 21.

Their mother was diagnosed with breast cancer during Rebecca’s chemotherapy. Rebecca died in 1994. Their father later developed bowel cancer, and their mother received a second breast cancer diagnosis followed by oesophageal cancer in 2009 that proved fatal.

A second sister was diagnosed in 2020 with fast-growing triple-negative breast cancer. Genetic testing ruled out BRCA1 and BRCA2 mutations but confirmed a TP53 mutation and Li-Fraumeni syndrome. Hutchinson, then 47 and living in Sydney, underwent the same test and received a positive result.

Within months she had a double mastectomy. Pathology showed two ductal carcinomas in situ in the left breast. She joined an Australian clinical trial offering annual whole-body MRI scans to people with TP53 mutations.

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

Her geneticist suggested the mutation may have arisen de novo in her mother and been passed to Hutchinson and her sisters.