Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome-Reference-Cited by-同舟云学术

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Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome

Published:2024-09-11 Issue: Volume: Page:
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Freycon Claire^ORCID,Palma Laura,Budd Crystal,Coulombe Frederic,Witkowski Leora,Hainaut Pierre,Foulkes William D.,Goudie Catherine

Funder

Fondation ARC pour la Recherche sur le Cancer

Canceropole Lyon Auvergne Rhone-Alpes

Fonds de Recherche du Québec - Santé

Fondation de l’Hôpital de Montréal pour enfants

Cole Foundation

TD Ready Challenge

Fondation du cancer des Cèdres

Canadian Institutes of Health Research

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s10689-024-00419-7.pdf

Reference14 articles.

1. Bougeard G, Renaux-Petel M, Flaman JM et al (2015) Revisiting Li-Fraumeni Syndrome from TP53 mutation carriers. J Clin Oncol 33(21):2345–2352. https://doi.org/10.1200/JCO.2014.59.5728

2. Amadou A, Achatz MIW, Hainaut P (2018) Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome. Curr Opin Oncol 30(1):23–29. https://doi.org/10.1097/CCO.0000000000000423

3. Pinto EM, Zambetti GP (2020) What 20 years of research has taught us about the TP53 p.R337H mutation. Cancer 126(21):4678–4686. https://doi.org/10.1002/cncr.33143

4. Kratz CP, Freycon C, Maxwell KN et al (2021) Analysis of the Li-Fraumeni Spectrum based on an international germline TP53 variant data set: an International Agency for Research on Cancer TP53 Database Analysis. JAMA Oncol 7(12):1800–1805. https://doi.org/10.1001/jamaoncol.2021.4398

5. Fortuno C, Pesaran T, Mester J et al (2020) Genotype-phenotype correlations among TP53 carriers: literature review and analysis of probands undergoing multi-gene panel testing and single-gene testing. Cancer Genet 248–249:11–17. https://doi.org/10.1016/j.cancergen.2020.09.002

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