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Li‐Fraumeni versus Pseudo‐Li‐Fraumeni Syndrome: Key Insights for Interpreting Next‐Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes

This brief communication describes the case of a patient with colorectal cancer with a TP53 germline mutation initially considered somatic because no TP53 germline mutation was noted in the liquid biopsy (cell‐free DNA) next‐generation sequencing assay.

Detalles Bibliográficos
Autores principales: Sorscher, Steven, Desnoyers, Rodwige, Ouyang, Karen, Ramkissoon, Shakti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AlphaMed Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5599202/
https://www.ncbi.nlm.nih.gov/pubmed/28592622
http://dx.doi.org/10.1634/theoncologist.2017-0016