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Trio sequencing in pediatric cancer and clinical implications

In pediatric cancer, we advocate for trio sequencing of the child and its parents. This method can have substantial implications for cancer prevention in parents and siblings and even in more distant family members. It does not only help to identify a putative classical cancer predisposition syndrom...

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Detalles Bibliográficos
Autores principales: Kuhlen, Michaela, Borkhardt, Arndt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5887902/
https://www.ncbi.nlm.nih.gov/pubmed/29507082
http://dx.doi.org/10.15252/emmm.201708641
Descripción
Sumario:In pediatric cancer, we advocate for trio sequencing of the child and its parents. This method can have substantial implications for cancer prevention in parents and siblings and even in more distant family members. It does not only help to identify a putative classical cancer predisposition syndrome in the index patient, but also detects the combinatorial effect of two independent risk variants in the same signaling pathway. This type of inheritance pattern could contribute to explaining the early occurrence of cancer in children and young adults and thereby inform early diagnosis, screening and preventive measures.