Li-Fraumeni syndrome: a germline <i>TP53</i> splice variant reveals a novel physiological alternative transcript
By combining these approaches, we successfully reclassified this intronic VUS as 'pathogenic', enabling appropriate genetic counselling for the patient and her family. Additionally, we identified a novel TP53 alternative transcript that is expressed in both physiological and pathological contexts, with heightened expression in the patient with LFS. This discovery provides a basis for further investigation into the role of TP53 isoforms in LFS oncogenesis.
Authors
- Claude Houdayer (ORCID: https://orcid.org/0000-0002-5190-0389)
- Karen Baudry
- Edwige Kasper (ORCID: https://orcid.org/0000-0003-1699-0670)
- Gaëlle Bougeard (ORCID: https://orcid.org/0000-0002-1475-0254)
- Emilie Bouvignies
- Gwendoline Lienard
- Stéphanie Vasseur
- Sophie Coutant (ORCID: https://orcid.org/0000-0003-1255-8418)
- Pascal Pujol (ORCID: https://orcid.org/0000-0001-8315-4715)
- Myriam Vézain (ORCID: https://orcid.org/0000-0002-8333-1360)
- John M. Louis (ORCID: https://orcid.org/0000-0002-0052-1899)
- Corentin Levacher
- Jacqueline Bou
- Marion Rolain
- Françoise Charbonnier
- Stéphanie Baert Desurmont
- Philippe Ruminy (ORCID: https://orcid.org/0000-0003-1548-4848)
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Université de Montpellier (FR)
- Centre Hospitalier Universitaire de Montpellier (FR)
- Normandie Université (FR)
- Institut de Recherche pour le Développement (FR)
- Centre Henri Becquerel
- Université de Rouen Normandie (FR)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-01-09
- DOI
- https://doi.org/10.1136/jmg-2024-110449
- Citations
- 1
- Primary Topic
- Cancer-related Molecular Pathways
- Type
- article
- Field-Weighted Citation Impact
- 1.05