Diagnostic and Practical Challenges in Applying National Comprehensive Cancer Network Guidelines for Suspected Pathogenic TP53 Mosaicism

JCO Precis Oncol. 2024 Jul:8:e2400006. doi: 10.1200/PO.24.00006.

Authors

Daniel I Nathan¹, Tehilla Brander², Julie Gold², Deborah Paul³, Paula Klein¹, Kit Cheng⁴, Johnson M Liu¹, Bridget K Marcellino¹

Affiliations

¹ Division of Hematology and Medical Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY.
² Division of Medical Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY.
³ Department of Breast Services, The Blavatnik Family Chelsea Medical Center, Mount Sinai Beth Israel, New York, NY.
⁴ Division of Medical Oncology and Hematology, Zuckerberg Cancer Center, New Hyde Park, NY.

Abstract

Benefits and limitations in using NCCN guidelines to distinguish TP53 CH from mosaic LFS.

Publication types

Case Reports

MeSH terms

Female
Humans
Li-Fraumeni Syndrome / diagnosis
Li-Fraumeni Syndrome / genetics
Mosaicism*
Practice Guidelines as Topic
Tumor Suppressor Protein p53* / genetics

Substances

Tumor Suppressor Protein p53
TP53 protein, human

Grants and funding

T32 CA225617/CA/NCI NIH HHS/United States