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Article

Clinical and surveillance outcomes of the TP53 c.1000G > C (p.Gly334Arg) variant.

Familial cancer - 22 Jul 2026

Peerless Yehudit, Bernstein-Molho Rinat, Kventsel Iris, Frenkel Zehavit, Levi Lilach, Kedar Inbal, Zick Aviad, Peretz Tamar, Goldberg Yael, Halpern Naama

Abstract excerpt

BACKGROUND: Germline TP53 pathogenic variants are classically associated with Li-Fraumeni syndrome, although penetrance and tumor spectrum vary substantially across specific alleles. The Ashkenazi Jewish TP53 c.1000G > C (p.Gly334Arg) variant has been reported as a lower-penetrance, later-onset cancer predisposition allele, but its clinical classification and penetrance remain subjects of ongoing discussion....

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Source

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Identifiers

PMID: 42484901
DOI: 10.1007/s10689-026-00591-y
PMCID: PMC13391678

Genes

TP53

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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