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Suspected Germline TP53 Variants and Clonal Hematopoiesis of Indeterminate Potential: Lessons Learned From a Molecular Tumor Board.

The oncologist - 5 Jul 2023

Xavier Camila B, Link Rudinei, Abreu Leonília, Bettoni Fabiana, Marson Fabiane, Galante Pedro A F, Masotti Cibele, Amano Mariane T, de Molla Vinicius, Camargo Anamaria A, Asprino Paula F, Sabbaga Jorge

Abstract excerpt

OBJECTIVE: Li-Fraumeni syndrome (LFS) is a pan-cancer predisposition syndrome caused by germline pathogenic variants in the gene TP53. The interpretation of TP53 variants in clinical scenarios outside the classic LFS criteria may be challenging. Here, we report a patient affected by 2 primary cancers at later ages, who harbored a likely pathogenic TP53 at low allele frequency detected in a blood sample. METHODS:...

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Share to Clonal Hematopoiesis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37159554
DOI: 10.1093/oncolo/oyad105
PMCID: PMC10322129

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