TP53 p.R181H is enriched in the Swedish cohort (SWEP53) and associated with a distinct breast and prostate phenotype

Abstract Li-Fraumeni Syndrome (LFS) is a severe cancer predisposition syndrome caused by germline TP53 variants and characterized by a wide range of cancers. The TP53 variant p.R181H is enriched in the Swedish germline TP53 cohort and has distinct phenotypical characteristics. Using our nationwide S...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Alexander Sun Zhang, Meis Omran, Cecilia Arthur, Helena Malmgren, Rita Barbosa-Matos, Susana Seixas, Carla Oliveira, Emma Tham, Svetlana Bajalica-Lagercrantz
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Nature Portfolio 2025-10-01
Σειρά:	Scientific Reports
Θέματα:	Germline TP53 Li-Fraumeni syndrome Founder Surveillance
Διαθέσιμο Online:	https://doi.org/10.1038/s41598-025-22407-2
Ετικέτες:	Προσθήκη ετικέτας Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!