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Article

Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2022

Fortuno Cristina, McGoldrick Kelly, Pesaran Tina, Dolinsky Jill, Hoang Lily, Weitzel Jeffrey N, Beshay Victoria, San Leong Huei, James Paul A, Spurdle Amanda B

Abstract excerpt

PURPOSE: Some variants identified by multigene panel testing of DNA from blood present with low variant allele fraction (VAF), often a manifestation of clonal hematopoiesis. Research has shown that the proportion of variants with low VAF is especially high in TP53, the Li-Fraumeni syndrome gene. Based on the hypothesis that variants with low VAF are positively selected as drivers of clonal hematopoiesis, we...

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Source

Identifiers

PMID: 34906512
DOI: 10.1016/j.gim.2021.10.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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