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- Title
Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML.
- Authors
Link, Daniel C.; Schuettpelz, Laura G.; Dong Shen; Jinling Wang; 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
- Abstract
The article discusses a study that applies whole-genome sequencing to a patient who had no significant family history of cancer but who had a suspected higher cancer susceptibility due to multiple primary tumors, with the aim of identifying rare or novel germline variants in cancer susceptibility genes. Skin and bone marrow DNA were acquired from the cancer patient. The samples were analyzed with whole-genome sequencing using paired-end reads, single-nucleotide polymorphism (SNP) genotyping, spectral karyotyping and RNA expression profiling.
- Subjects
NUCLEOTIDE sequence; CANCER susceptibility; TUMORS; GERM cells; BONE marrow cells; GENETIC polymorphisms
- Publication
JAMA: Journal of the American Medical Association, 2011, Vol 305, Issue 15, p1568
- ISSN
0098-7484
- Publication type
Case Study
- DOI
10.1001/jama.2011.473