Article
Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.
European journal of human genetics : EJHG - 1 Jun 2025
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
Abstract excerpt
The development of multiple primary tumors is one of the hallmarks of hereditary cancer. The phenotypic presentation of individuals with multiple primary tumors is often heterogeneous, which hampers the establishment of a genetic diagnosis. The absence of a genetic diagnosis may lead to inappropriate surveillance advices and treatment choices. The aim of this study was to investigate whether whole-exome...
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