Article
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.
JCO precision oncology - 1 Apr 2026
Martins Nelson, Terradas Mariona, Garcia-Pelaez José, Sommer Anna K, Demidov German, Matalonga Leslie, Ramos-Muntada Mireia, Te Paske Iris B A W, Spier Isabel, Mensenkamp Arjen, Schuurs-Hoeijmakers Janneke, Gullo Irene, São José Celina, Pedro Ana Maria, Gouveia Silva Raquel, Sousa Ana Berta, Amoroso Canão Pedro, Fernandes Susana, Garrido Luzia, Dupont Juliette, Maia Sofia, Sousa Gabriela, Irmejs Arvids, Barili Valeria, Blatnik Ana, Rofes Paula, Brunet Joan, Capellá Gabriel, Laurie Steven, Lázaro Conxi, Hoogerbrugge Nicoline, de Voer Richarda M, Aretz Stefan, Oliveira Carla, Valle Laura
Abstract excerpt
PURPOSE: Hereditary cancers represent 5%-10% of all cancers, typically characterized by familial aggregation, early onset, and/or multiple primary tumors. Isolated cases with extreme early-onset or multiple unrelated cancers are rare and frequently underdiagnosed. This study aimed to improve genetic diagnostic yield in unresolved patients with strong clinical suspicion of hereditary cancer. Inclusion criteria...
Topics
- Adolescent
- Adult
- Female
- Humans
- Male
- Middle Aged
- Young Adult