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:
Brief Communications
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
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author Sorscher, Steven
Desnoyers, Rodwige
Ouyang, Karen
Ramkissoon, Shakti
author_facet Sorscher, Steven
Desnoyers, Rodwige
Ouyang, Karen
Ramkissoon, Shakti
author_sort Sorscher, Steven
collection PubMed
description 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.
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spelling pubmed-55992022017-09-21 Li‐Fraumeni versus Pseudo‐Li‐Fraumeni Syndrome: Key Insights for Interpreting Next‐Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes Sorscher, Steven Desnoyers, Rodwige Ouyang, Karen Ramkissoon, Shakti Oncologist Brief Communications 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. AlphaMed Press 2017-06-07 2017-09 /pmc/articles/PMC5599202/ /pubmed/28592622 http://dx.doi.org/10.1634/theoncologist.2017-0016 Text en © AlphaMed Press 2017
spellingShingle Brief Communications
Sorscher, Steven
Desnoyers, Rodwige
Ouyang, Karen
Ramkissoon, Shakti
Li‐Fraumeni versus Pseudo‐Li‐Fraumeni Syndrome: Key Insights for Interpreting Next‐Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes
title Li‐Fraumeni versus Pseudo‐Li‐Fraumeni Syndrome: Key Insights for Interpreting Next‐Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes
title_full Li‐Fraumeni versus Pseudo‐Li‐Fraumeni Syndrome: Key Insights for Interpreting Next‐Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes
title_fullStr Li‐Fraumeni versus Pseudo‐Li‐Fraumeni Syndrome: Key Insights for Interpreting Next‐Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes
title_full_unstemmed Li‐Fraumeni versus Pseudo‐Li‐Fraumeni Syndrome: Key Insights for Interpreting Next‐Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes
title_short Li‐Fraumeni versus Pseudo‐Li‐Fraumeni Syndrome: Key Insights for Interpreting Next‐Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes
title_sort li‐fraumeni versus pseudo‐li‐fraumeni syndrome: key insights for interpreting next‐generation sequencing reports in patients with suspected cancer predisposition syndromes
topic Brief Communications
url 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
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