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

Steven Sorscher; Rodwige Desnoyers; Karen Ouyang; Shakti Ramkissoon

doi:10.1634/theoncologist.2017-0016

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

Oncologist. 2017 Sep;22(9):1084-1085. doi: 10.1634/theoncologist.2017-0016. Epub 2017 Jun 7.

Authors

Steven Sorscher¹, Rodwige Desnoyers², Karen Ouyang³, Shakti Ramkissoon⁴

Affiliations

¹ Oncology Division, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA ssorsche@wakehealth.edu.
² Oncology Division, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
³ Karen Ouyang, Cancer Genetics and Hematology, Clinical Molecular Geneticist and Cytogeneticist Invitae Corportation, San Francisco, California, USA.
⁴ Shakti Ramkissoon, Foundation Medicine, Inc., Cambridge, Massachusetts, USA.

Abstract

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.

Publication types

Case Reports

MeSH terms

Adult
Colorectal Neoplasms / diagnosis*
Colorectal Neoplasms / genetics
Female
Genetic Predisposition to Disease*
Genotype
Germ-Line Mutation*
High-Throughput Nucleotide Sequencing / standards*
Humans
Li-Fraumeni Syndrome / diagnosis*
Li-Fraumeni Syndrome / genetics
Male
Middle Aged
Tumor Suppressor Protein p53 / genetics*

Substances

TP53 protein, human
Tumor Suppressor Protein p53