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Identification of a Novel TP53Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML

Identification of a Novel TP53Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a... PRELIMINARY COMMUNICATION Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML Daniel C. Link, MD Context The identification of patients with inherited cancer susceptibility syn- Laura G. Schuettpelz, MD, PhD dromes facilitates early diagnosis, prevention, and treatment. However, in many cases Dong Shen, MD, PhD of suspected cancer susceptibility, the family history is unclear and genetic testing of common cancer susceptibility genes is unrevealing. Jinling Wang, MD Objective To apply whole-genome sequencing to a patient without any significant fam- Matthew J. Walter, MD ily history of cancer but with suspected increased cancer susceptibility because of multiple Shashikant Kulkarni, PhD primary tumors to identify rare or novel germline variants in cancer susceptibility genes. Jacqueline E. Payton, MD, PhD Design, Setting, and Participant Skin (normal) and bone marrow (leukemia) DNA Jennifer Ivanovich, MS wereobtainedfromapatientwithearly-onsetbreastandovariancancer(negativeforBRCA1 Paul J. Goodfellow, PhD and BRCA2 mutations) and therapy-related acute myeloid leukemia (t-AML) and analyzed with the following: whole-genome sequencing using paired-end reads, single-nucleotide Michelle Le Beau, PhD polymorphism (SNP) genotyping, RNA expression profiling, and spectral karyotyping. Daniel C. Koboldt, MS Main Outcome Measures Structural variants, copy number alterations, single- David J. Dooling, PhD nucleotide variants, and small insertions http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

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Publisher
American Medical Association
Copyright
Copyright 2011 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
0098-7484
eISSN
1538-3598
DOI
10.1001/jama.2011.473
pmid
21505135
Publisher site
See Article on Publisher Site

Abstract

PRELIMINARY COMMUNICATION Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML Daniel C. Link, MD Context The identification of patients with inherited cancer susceptibility syn- Laura G. Schuettpelz, MD, PhD dromes facilitates early diagnosis, prevention, and treatment. However, in many cases Dong Shen, MD, PhD of suspected cancer susceptibility, the family history is unclear and genetic testing of common cancer susceptibility genes is unrevealing. Jinling Wang, MD Objective To apply whole-genome sequencing to a patient without any significant fam- Matthew J. Walter, MD ily history of cancer but with suspected increased cancer susceptibility because of multiple Shashikant Kulkarni, PhD primary tumors to identify rare or novel germline variants in cancer susceptibility genes. Jacqueline E. Payton, MD, PhD Design, Setting, and Participant Skin (normal) and bone marrow (leukemia) DNA Jennifer Ivanovich, MS wereobtainedfromapatientwithearly-onsetbreastandovariancancer(negativeforBRCA1 Paul J. Goodfellow, PhD and BRCA2 mutations) and therapy-related acute myeloid leukemia (t-AML) and analyzed with the following: whole-genome sequencing using paired-end reads, single-nucleotide Michelle Le Beau, PhD polymorphism (SNP) genotyping, RNA expression profiling, and spectral karyotyping. Daniel C. Koboldt, MS Main Outcome Measures Structural variants, copy number alterations, single- David J. Dooling, PhD nucleotide variants, and small insertions

Journal

JAMAAmerican Medical Association

Published: Apr 20, 2011

References