Journal ArticleDOI
Rebooting cancer tissue handling in the sequencing era: toward routine use of frozen tumor tissue.
TLDR
The relevant issues behind the incorporation of optimal tissue sampling techniques into routine pathologic practice are discussed and recommendations for the cancer genomic medicine of the future are made.Abstract:
GENOMICS IS POISED TO REVOLUTIONIZE CANCER TREATment. Whole genome sequencing is becoming more rapid, accurate, and affordable, and the ability to use genomic data to match biologically based therapy to an individual is becoming a reality. As the sequencing endeavor transitions from a heroic effort performed by a dedicated team for a particular patient to a routine component of most, if not all, cancer diagnoses, standards for acquiring appropriate tissue samples also must evolve. This is necessary because an individual’s native (germline) genome must be compared with the genome of the tumor. Deciding how best to obtain these samples and how best to process them for whole genome or exome sequencing is a pivotal yet unresolved issue with several layers of complexity. Pathologists currently optimize tumor sampling and processing to leverage standard diagnostic methods. However, as the new clinical applicability of genomics emerges at a fairly rapid rate, the field of pathology will arrive at the tipping point for a fundamental change in how cancer specimens are handled. In this Viewpoint, we discuss the relevant issues behind the incorporation of optimal tissue sampling techniques into routine pathologic practice and make recommendations for the cancer genomic medicine of the future.read more
Citations
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Journal ArticleDOI
Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine
Eliezer M. Van Allen,Nikhil Wagle,Petar Stojanov,Danielle Perrin,Kristian Cibulskis,Sara Marlow,Judit Jané-Valbuena,Dennis C. Friedrich,Gregory V. Kryukov,Scott L. Carter,Aaron McKenna,Andrey Sivachenko,Mara Rosenberg,Adam Kiezun,Douglas Voet,Michael S. Lawrence,Lee Lichtenstein,Jeff Gentry,Franklin W. Huang,Jennifer L. Fostel,Deborah N. Farlow,David A. Barbie,Leena Gandhi,Eric S. Lander,Stacy W. Gray,Steven Joffe,Pasi A. Jänne,Judy Garber,Laura E. MacConaill,Neal I. Lindeman,Barrett J. Rollins,Philip W. Kantoff,Sheila Fisher,Stacey Gabriel,Gad Getz,Levi A. Garraway +35 more
TL;DR: A prospective clinical WES platform for archival formalin-fixed, paraffin-embedded tumor samples that employs computational methods for effective clinical analysis and interpretation of WES data and may inform the widespread implementation of precision cancer medicine.
Journal ArticleDOI
Next-generation sequencing to guide cancer therapy
TL;DR: This work states that standard formalin-fixed, paraffin-embedded specimens can more regularly be used as starting materials for NGS, and protocols for the analysis and interpretation of NGS data, as well as knowledge bases, are being amassed, allowing clinicians to act more easily on genomic information at the point of care for patients.
Journal ArticleDOI
Genomic Medicine: A Decade of Successes, Challenges, and Opportunities
TL;DR: The latest achievements in genome research and their impact on medicine, primarily in the past decade are reviewed, including the use of next-generation sequencing in cancer pharmacogenomics, in the diagnosis of rare disorders, and in the tracking of infectious disease outbreaks.
Journal ArticleDOI
Data Interoperability of Whole Exome Sequencing (WES) Based Mutational Burden Estimates from Different Laboratories
Ping Qiu,Ling Pang,Gladys Arreaza,Maureen Maguire,Ken C. N. Chang,Matthew J. Marton,Diane Levitan +6 more
TL;DR: Independent data analysis from vendors’ raw NGS data shows that whole exome sequencing data from qualified vendors can be combined and analyzed uniformly to derive comparable quantitative estimates of tumor mutational burden.
Journal ArticleDOI
Overview of the genetic determinants of primary aldosteronism.
TL;DR: Somatic mutations in the KCNJ5, ATP1A1, ATP2B3 or CACNA1D genes are present in more than half of all cases of aldosterone-producing adenoma, and some of these mutations are associated with high cell turnover and may be amenable to diagnosis via the sequencing of cell-free (circulating) DNA.
References
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Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing
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TL;DR: Applying a next-generation sequencing assay targeting 145 cancer-relevant genes in 40 colorectal cancer and 24 non–small cell lung cancer formalin-fixed paraffin-embedded tissue specimens identified at least one clinically relevant genomic alteration in 59% of the samples and revealed two gene fusions, C2orf44-ALK in a colorective cancer sample and KIF5B-RET in a lung adenocarcinoma.
Journal ArticleDOI
Exploring the Genomes of Cancer Cells: Progress and Promise
TL;DR: An overview of what exhaustive sequencing of cancer genomes across a wide range of human tumors has revealed about the origin and behavioral features of cancer cells and how this genomic information is being exploited to improve diagnosis and therapy of the disease.
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