Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer

J Med Genet. 2024 Oct 23;61(11):1023-1025. doi: 10.1136/jmg-2024-110255.

Anna Byrjalsen¹, Ulrik Kristoffer Stoltze^{2

3}, Charlotte Lautrup⁴, Lise Lotte Christensen⁵, Torben Mikkelsen⁶, Lisa Hjalgrim³, Jesper Sune Brok³, Christine Dahl³, Kjeld Schmiegelow^{3

7}, Lotte Borgwardt⁸, Birgitte Rode Diness^{2

7}, Thomas Van Overeem Hansen^{2

7}, Karin A W Wadt^{2

7}

¹ Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark anna.byrjalsen@regionh.dk.
² Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
³ Department of Pediatric and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
⁴ Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
⁵ Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
⁶ Department of Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
⁷ Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
⁸ Department of Diagnostic Radiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

No abstract available

Keywords: Bone Marrow Diseases; Child Health; Ethics; Genetic Counseling; Genetic Predisposition to Disease.