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Journal ArticleDOI

Rebooting cancer tissue handling in the sequencing era: toward routine use of frozen tumor tissue.

Laura Goetz, +2 more
- 02 Jan 2013 - 
- Vol. 309, Iss: 1, pp 37-38
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.

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Citations
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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

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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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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