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Article

Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.

Human mutation - 1 Dec 2018

Weber-Lassalle Konstantin, Harter Philipp, Hauke Jan, Ernst Corinna, Kommoss Stefan, Marmé Frederik, Weber-Lassalle Nana, Prieske Katharina, Dietrich Dimo, Borde Julika, Pohl-Rescigno Esther, Reuss Alexander, Ataseven Beyhan, Engel Christoph, Stingl Julia C, Schmutzler Rita K, Hahnen Eric

Abstract excerpt

The Li-Fraumeni cancer predisposition syndrome (LFS1) presents with a variety of tumor types and the TP53 gene is covered by most diagnostic cancer gene panels. We demonstrate that deleterious TP53 variants identified in blood-derived DNA of 523 patients with ovarian cancer (AGO-TR1 trial) were not causal for the patients' ovarian cancer in three out of six TP53-positive cases. In three out of six patients,...

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Identifiers

PMID: 30216591
DOI: 10.1002/humu.23653

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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