High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.

High frequency of germline TP53 mutations in a prospective adult-onset sarcoma cohort.

Sarcomas are a key feature of Li-Fraumeni and related syndromes (LFS/LFL), associated with germline TP53 mutations. Current penetrance estimates for TP53 mutations are subject to significant ascertainment bias. The International Sarcoma Kindred Study is a clinic-based, prospective cohort of adult-on...

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Autores principales: Gillian Mitchell, Mandy L Ballinger, Stephen Wong, Chelsee Hewitt, Paul James, Mary-Anne Young, Arcadi Cipponi, Tiffany Pang, David L Goode, Alex Dobrovic, David M Thomas, International Sarcoma Kindred Study
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2013
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/f425bdcf908c4efeb2d912f309ba26f8
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