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Article

Shared inheritance reveals landscape of somatic and germline cancer risk in TP53.

American journal of human genetics - 3 Sept 2026

MacGregor Hamish A J, Blundell Jamie R, Easton Douglas F

Abstract excerpt

Pathogenic variants in TP53, the key tumor suppressor gene underlying Li-Fraumeni syndrome (LFS), are among the best-established causes of inherited cancer predisposition. However, large-scale sequencing has revealed that many apparently pathogenic TP53 variants detected in blood are the result of somatic clonal expansions, complicating risk interpretation. Using blood-derived whole-exome data from 469,391 UK...

Read the complete abstract on PubMed

Topics

Humans
Tumor Suppressor Protein p53
Germ-Line Mutation
Genetic Predisposition to Disease
Li-Fraumeni Syndrome
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Neoplasms

Male

Middle Aged

Haplotypes

Alleles

Adult

Source

Identifiers

PMID: 42607671
DOI: 10.1016/j.ajhg.2026.07.011

Genes

TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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