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Yeast As a Chassis for Developing Functional Assays to Study Human P53

Yeast As a Chassis for Developing Functional Assays to Study Human P53

Published on: August 4, 2019

Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution.

Amalie Noergaard Andersson¹, Anna Byrjalsen¹, Ida Elisabeth Viller Tuxen²

¹Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.

Journal of Medical Genetics

|June 9, 2026

Summary

Accurate interpretation of TP53 pathogenic variants (PVs) is crucial for cancer diagnosis and management. These cases demonstrate challenges in identifying TP53 PVs and underscore the need for careful clinical evaluation.

Keywords:

Genetic Counseling Genetic Predisposition to Disease Hematology Mosaicism

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Last Updated: Jun 11, 2026

Yeast As a Chassis for Developing Functional Assays to Study Human P53

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Published on: August 4, 2019

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Published on: September 20, 2016

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Published on: November 5, 2019

Area of Science:

Genetics and Genomics
Oncology
Clinical Diagnostics

Background:

TP53 pathogenic variants (PVs) are associated with various cancers and complex clinical presentations.
Diagnostic challenges arise from mosaicism and distinguishing somatic from germline variants.

Purpose of the Study:

To illustrate diagnostic, surveillance, and management complexities associated with TP53 PVs.
To emphasize the importance of accurate TP53 variant interpretation in clinical decision-making.

Main Methods:

Case report analysis of two patients with TP53 PVs.
Review of diagnostic sequencing, variant allele frequency analysis, and clinical phenotyping.

Main Results:

Case 1: A 24-year-old female with early-onset breast cancer and a missed somatic mosaic TP53 PV.
Case 2: A 59-year-old female with multiple tumors, initially suspected mosaicism, later identified as a myelodysplastic syndrome-related clone secondary to ERCC6L2 variants.

Conclusions:

Accurate interpretation of TP53 PVs is essential for appropriate diagnosis, treatment, and surveillance.
Clinical context, including age, phenotype, family history, and tissue type, is vital for guiding TP53 variant assessment.