This case is part of our ongoing Genetic Testing Challenges in Oncology series, which examines how gaps in genetic testing and communication can delay accurate diagnoses. In this case, a buried lab report kept a young woman from learning she carried a high-risk cancer gene until her cancer had already reached stage IV.
Two Reports, One Overlooked
A young woman with a family history of early-onset breast cancer sought guidance from her gynecologist about her own cancer risk. The gynecologist ordered a multi-gene cancer panel from a commercial lab. The lab issued the results in two separate documents on the same day: one covering BRCA1/2, and a second covering an expanded panel of additional cancer risk genes.
More than a year after the test was ordered, doctors diagnosed the patient with stage IV breast cancer at age 31. Her oncologist then referred her for genetic counseling.
A Genetic Counselor Uncovers the Missing TP53 Result
The genetic counselor noticed only the BRCA1/2 report in the patient’s records and called the lab for the full results. The expanded panel report revealed that the patient carried a germline pathogenic variant in TP53, the gene associated with Li-Fraumeni syndrome. This condition confers approximately a 90 percent lifetime cancer risk and strongly predisposes women to early-onset breast cancer, often diagnosed before age 30.
The gynecologist had received both reports more than a year before the patient’s cancer diagnosis but had never disclosed the TP53 finding to the patient. Per established guidelines, women with Li-Fraumeni syndrome should begin intensive breast cancer surveillance at age 20, surveillance that could have caught this patient’s cancer far earlier and at a more survivable stage. The TP53 variant was also critical treatment information, since patients with germline TP53 mutations are radiation-sensitive and face a heightened risk of developing new primary cancers in radiation fields.
Read the full article here.