LFSPRO Model Shows Superior Discrimination for Li-Fraumeni Syndrome

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By Elana Gotkine HealthDay Reporter

Medically reviewed by Carmen Pope, Senior Medical Editor, B. Pharm. Last updated on May 1, 2026.

via HealthDay

FRIDAY, May 1, 2026 -- LFSPRO, a Mendelian, family history-based model that estimates an individual's probability of harboring a deleterious TP53 variant, shows superior discrimination to Chompret criteria for Li-Fraumeni syndrome (LFS), according to a study published online April 15 in the American Journal of Human Genetics.

Jessica L. Corredor, from the University of Texas MD Anderson Cancer Center in Houston, and colleagues examined whether LFSPRO improves identification of individuals with LFS relative to guideline criteria in a cohort of 178 probands who underwent clinical genetic counseling and germline TP53 testing.

The researchers found that LFSPRO showed superior discrimination versus Chompret criteria, with higher sensitivity (81 versus 33 percent) and higher specificity (88 versus 65 percent) and with improved positive predictive values (0.53 versus 0.14) and negative predictive values (0.96 versus 0.85). Strong discriminatory performance was confirmed in a receiver operating characteristic analysis (area under the curve, 0.88). Good agreement between predicted and observed pathogenic/likely pathogenic variant frequencies was seen in a calibration analysis using observed-to-expected ratios (observed/expected, 1.07).

"Most risk prediction models are validated only in research-based cohorts, but our study demonstrates LFSPRO's performance in a real-world genetic counseling setting, where limited family history information is provided within 30 minutes and most counselees test negative," lead author Wenyi Wang, Ph.D., also from the University of Texas MD Anderson Cancer Center, said in a statement. "Our model demonstrated substantially higher accuracy than current clinical guidelines and had strong concordance with genetic counselors' judgment."

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Disclaimer: Statistical data in medical articles provide general trends and do not pertain to individuals. Individual factors can vary greatly. Always seek personalized medical advice for individual healthcare decisions.

Source: HealthDay

Posted : 2026-05-02 02:06

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