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

doi:10.1001/jama.2011.473

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Article

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

JAMA - 20 Apr 2011

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

Abstract excerpt

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 unrevealing. OBJECTIVE: To apply whole-genome sequencing to a patient without any significant family history of cancer but...

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Identifiers

PMID: 21505135
DOI: 10.1001/jama.2011.473
PMCID: PMC3170052

Genes

BRCA1
BRCA2

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