The identification of a novel TP53 cancer susceptibility mutation through whole genome sequencing of a patient with therapy-related AML

CONTEXT: The identification of patients with inherited cancer susceptibility syndromes facilitates early diagnosis, prevention, and treatment. However, in many cases of suspected cancer susceptibility, the family history is unclear and genetic testing of common cancer susceptibility genes is unrevea...

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Hlavní autoři: Link, Daniel C., Schuettpelz, Laura G., Shen, Dong, Wang, Jinling, Walter, Matthew J., Kulkarni, Shashikant, Payton, Jacqueline E., Ivanovich, Jennifer, Goodfellow, Paul J., Le Beau, Michelle, Koboldt, Daniel C., Dooling, David J., Fulton, Robert S., Bender, R. Hugh F., Fulton, Lucinda L., Delehaunty, Kimberly D., Fronick, Catrina C., Appelbaum, Elizabeth L., Schmidt, Heather, Abbott, Rachel, O'Laughlin, Michelle, Chen, Ken, McLellan, Michael D., Varghese, Nobish, Nagarajan, Rakesh, Heath, Sharon, Graubert, Timothy A., Ding, Li, Ley, Timothy J., Zambetti, Gerard P., Wilson, Richard K., Mardis, Elaine R.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3170052/
https://ncbi.nlm.nih.gov/pubmed/21505135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jama.2011.473
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