What is it about?
The study reports the first case of co-segregation of this rare variant with cancer in an Algerian family across two generations. The variant is classified as "Likely Pathogenic" based on ACMG/AMP criteria.
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Why is it important?
The study emphasizes the importance of genetic testing for TP53 variants in families meeting Chompret criteria and highlights the challenges in interpreting and reclassifying TP53 germline missense variants. It discusses the clinical implications of reclassification for patient care, prognosis, treatment strategies, and monitoring..
Perspectives
This initial study paves the way for further research into the prevalence and impact of TP53 genetic variations in large cohort of LFS patients in the Algerian population.
Professor Farid Cherbal
Universite des Sciences et de la Technologie Houari Boumediene
Read the Original
This page is a summary of: Segregation of the rare TP53 germline missense variant c.314G>T, p.Gly105Val in Algerian family with Li-Fraumeni Syndrome: First report, Cancer Genetics, November 2025, Elsevier,
DOI: 10.1016/j.cancergen.2025.11.001.
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