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 unreveal...

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Veröffentlicht in:	JAMA : the journal of the American Medical Association 2011-04, Vol.305 (15), p.1568-1576
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Biological and medical sciences Breast Neoplasms - therapy Cancer Cystadenocarcinoma, Serous - therapy Deoxyribonucleic acid DNA DNA, Neoplasm - genetics Female General aspects Genes, p53 - genetics Genetic Predisposition to Disease Genome, Human - genetics Genomes Hematologic and hematopoietic diseases Humans Leukemia Leukemia, Myeloid, Acute - etiology Leukemia, Myeloid, Acute - genetics Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Medical sciences Ovarian Neoplasms - therapy Polymorphism, Single Nucleotide Sequence Analysis, DNA Sequence Deletion Tumor Suppressor Protein p53 - genetics
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