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

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 retrospective...

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Bibliographic Details
Published in:	Familial cancer Vol. 23; no. 4; pp. 531 - 542
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	Dordrecht Springer Netherlands 01-11-2024 Springer Nature B.V
Subjects:	Adolescent Adult Aged Arabs - genetics Biomedical and Life Sciences Biomedicine Cancer Cancer Research Carcinogens Child Child, Preschool Choroid plexus Demography Epidemiology Exome Sequencing Female Genetic Predisposition to Disease Genetic screening Genetic Testing Glioblastoma Haplotypes Heterozygote Human Genetics Humans Infant Israel Li-Fraumeni syndrome Li-Fraumeni Syndrome - genetics Male Malignancy Medulloblastoma Middle Aged Neoplasms - genetics Original Original Article p53 Protein Patients Pediatrics Pedigree Phenotypes Population genetics Retrospective Studies Tumor Suppressor Protein p53 - genetics Whole genome sequencing Young Adult Israel Jerusalem Israel p.Arg181Cys Arab-Muslim Hereditary cancer syndrome Li-Fraumeni TP53
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