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Article

Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent.

Familial cancer - 1 Nov 2024

Arnon Johnathan, Zick Aviad, Maoz Myriam, Salaymeh Nada, Gugenheim Ahinoam, Marouani MazalTov, Mor Eden, Hamburger Tamar, Saadi Nagam, Elia Anna, Ganz Gael, Fahham Duha, Meirovitz Amichay, Kadouri Luna, Meiner Vardiella, Yablonski-Peretz Tamar, Shkedi-Rafid Shiri

Abstract excerpt

TP53 pathogenic variants cause Li-Fraumeni syndrome (LFS), with some variants causing an attenuated phenotype. Herein, we describe the clinical phenotype and genetic characteristics of carriers of NM_000546.6 (TP53): c.541C > T, (p.Arg181Cys) treated at Hadassah Medical Center. We retrospectively examined our genetic databases to identify all carriers of TP53 p.Arg181Cys. We reached out to carriers and their...

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Identifiers

PMID: 38743206
DOI: 10.1007/s10689-024-00391-2
PMCID: PMC11512851

Genes

TP53

Variants

Provenance

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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