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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Veröffentlicht in:	PloS one Jg. 8; H. 7; S. e69026
Hauptverfasser:	Mitchell, Gillian, Ballinger, Mandy L., Wong, Stephen, Hewitt, Chelsee, James, Paul, Young, Mary-Anne, Cipponi, Arcadi, Pang, Tiffany, Goode, David L., Dobrovic, Alex, Thomas, David M.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States Public Library of Science 22.07.2013 Public Library of Science (PLoS)
Schlagworte:	Adult Age of Onset Base Sequence Biology Blood Bone cancer Breast cancer Cancer Carriers Cohort Studies Copy number Deoxyribonucleic acid DNA DNA sequencing Ewings sarcoma Family medical history Female Gene mutation Genetic aspects Genetic counseling Genetic screening Genetics Germ-Line Mutation Humans Kaplan-Meier Estimate Male Medical diagnosis Medical genetics Medical research Medicine Middle Aged Multiplexing Mutation Oncology p53 Protein Pathology Pediatrics Pedigree Prospective Studies Sarcoma Sarcoma - epidemiology Sarcoma - genetics Sequences Tissues Tumor proteins Tumor Suppressor Protein p53 - genetics Australia Victoria Australia
ISSN:	1932-6203, 1932-6203
Online-Zugang:	Volltext
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