Mosaic Li Fraumeni Syndrome Identified in Patient with a Previously Presumed Germline Variant Following Preimplantation Genetic Testing: A Case Report
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Co-Author - Rhianna Urban, MS, CGC; Presenting Author - Megan Holdren, MS, CGC; Co-Author - Megan Hoenig, MS, MPH, CGC; Co-Author - Laura M. Rust, MS, CGC; Co-Author - Myra J. Wick, MD, PhD, FACMG; Co-Author - Matthew Ferber, PhD; Co-Author - Zhiyv Niu, PhD; Co-Author - Sounak Gupta, MBBS, PhD; Co-Author - Wei Shen, PhD;
Meta Tag
Cancer Syndromes
Counseling
Genetic Testing
Co-Author Rhianna Urban, MS, CGC
Co-Author Megan Hoenig, MS, MPH, CGC
Co-Author Laura M. Rust, MS, CGC
Co-Author Myra J. Wick, MD, PhD, FACMG
Co-Author Matthew Ferber, PhD
Co-Author Zhiyv Niu, PhD
Co-Author Sounak Gupta, MBBS, PhD
Co-Author Wei Shen, PhD
Presenting Author Megan Holdren, MS, CGC
Keywords
germline variant
mosaic Li Fraumeni syndrome
preimplantation genetic testing
TP53 gene
adrenocortical neoplasm
osteosarcoma
immunohistochemistry staining
next-generation sequencing
clonal hematopoiesis of indeterminate potential
mosaicism

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