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Deciphering TP53 Mosaic Variants on Germline Biomarker Testing: Implications for Oncology Nurses.

Alyssa Grissom¹, Suzanne M Mahon²

¹Alyssa Grissom.

Clinical Journal of Oncology Nursing

|May 22, 2025

Summary

Germline TP53 gene testing can yield complex results like mosaicism or clonal hematopoiesis of indeterminate potential (CHIP). Further investigations are often necessary when initial tests are inconclusive.

Keywords:

Li–Fraumeni syndrome TP53 germline mosaicism somatic

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Area of Science:

Genetics
Oncology
Molecular Biology

Background:

Germline testing for the TP53 gene is crucial for assessing cancer predisposition.
Interpreting TP53 results can be challenging due to phenomena like mosaicism and CHIP.

Purpose of the Study:

To clarify the implications of noninformative germline TP53 testing results.
To outline the necessity and approach for additional testing in specific scenarios.

Main Methods:

Review of clinical cases with noninformative TP53 germline testing.
Analysis of diagnostic pathways following initial inconclusive results.

Main Results:

Noninformative results, including mosaicism and CHIP, complicate germline TP53 variant classification.
Additional molecular or clinical evaluations are frequently required.

Conclusions:

Understanding the nuances of TP53 testing is vital for accurate genetic counseling.
A systematic approach to follow-up testing ensures appropriate patient management.