Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes - Hinić, Snežana; Mensenkamp, Arjen R.; Schuurs-Hoeijmakers, Janneke H. M.; Brugnoletti, Fulvia; Vreede, Lilian; van Veen, Elke M.; Mijzen, Barend; van der Post, Rachel S.; Genuardi, Maurizio; Ligtenberg, Marjolijn J. L.; Hoogerbrugge, Nicoline; de Voer, Richarda M. (European journal of human genetics : EJHG, 2025)
Keywords: 45/22; 45/23; 631/208/69; 631/67/68; 692/308/2056; Adult; Aged; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Cancer; Cytogenetics; Diagnosis; Exome; Exome Sequencing - methods; Exome Sequencing - standards; Female; Gene Expression; Genes; Genetic counseling; Genetic Predisposition to Disease; Genetic screening; Genetic testing; Genetic Testing - methods; Genetic Testing - standards; Genetics; Genomes; Genomics; Genotype & phenotype; Germ-Line Mutation; Human Genetics; Humans; Male; Middle Aged; Multiple primary tumors; Neoplasms - diagnosis; Neoplasms - genetics; Phenotype; Phenotypes; PTEN protein; Signal transduction; Tumors; Whole genome sequencing; Netherlands