Prostate Cancer Coverage from Every Angle

Prostate Cancer Prevalence in Men With Li-Fraumeni Syndrome

By: Kelly M. Hennessey, PhD
Posted: Tuesday, November 17, 2020

Prior research has not identified a link between TP53 mutations and an incidence of prostate cancer. However, a recent study conducted by Kara N. Maxwell, MD, PhD, of the University of Pennsylvania, Philadelphia, and colleagues found that prostate cancer may be more common in patients with Li-Fraumeni syndrome than previously understood. The inherited disorder Li-Fraumeni syndrome predisposes carriers to a wide range of cancers due to mutations in TP53. This study's results were presented during the American Society of Human Genetics (ASHG) Virtual Meeting 2020 (Abstract 2407).

“Given the risk of de novo metastatic disease and likely benefit of early surgical treatment versus radiation therapy in this population, screening with prostate-specific antigen and digital rectal exam could be considered as part of the Li-Fraumeni syndrome screening protocol, beginning at age 30,” suggested the researchers.

The research team analyzed patient data across the following five cohorts: the International Agency for Research on Cancer (IARC), the University of Pennsylvania, Dana-Farber Cancer Institute, City of Hope, and Huntsman Cancer Institute. They evaluated likely pathogenic and pathogenic mutation carriers using four different criteria: all patients with TP53 mutations, men with prostate cancer, patients older than age 30 with TP53 mutations, and men older than age 30 with prostate cancer. Across all cohorts, a total of 545 men older than age 30 were likely TP53 mutation carriers.

They found a wide range of prostate cancer prevalence across all cohorts; heterogeneity ranged from 3% to 29% in male carriers of TP53 mutations. Prostate cancer in men older than age 30 ranged from 9% to 35%. Overall, across all cohorts, 63 of 1,231 families with Li-Fraumeni syndrome had a male member older than age 30 who was likely pathogenic or pathogenic mutation carriers and had prostate cancer. Considering the wide range of prevalence across the cohorts, the researchers noted the need for larger sampling to calculate the actual rate of prostate cancer in men with Li-Fraumeni syndrome.

Disclosure: For full disclosures of the study authors, visit

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