Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue
This case highlights the complexity of interpreting mosaic variants in the TP53 gene, and we propose a testing algorithm to aid in the delineation of this phenomenon when relaying cancer and reproductive risk information in the context of mosaicism.
Authors
- Nisha Kanwar (ORCID: https://orcid.org/0000-0003-2829-7566)
- Megan A Holdren
- Rhianna Urban (ORCID: https://orcid.org/0000-0001-6399-5015)
- Zhiyv Niu (ORCID: https://orcid.org/0000-0001-6068-5505)
- Myra Wick (ORCID: https://orcid.org/0000-0003-4126-4523)
- Laura Rust
- Matthew J. Ferber (ORCID: https://orcid.org/0000-0001-7965-408X)
- Shen Wei
- Megan F Hoenig
- Sounak Gupta
Institutions
- Mayo Clinic (US)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2026-01-29
- DOI
- https://doi.org/10.1002/mgg3.70178
- Primary Topic
- Cancer-related Molecular Pathways
- Type
- article
- Field-Weighted Citation Impact
- 0.00