Cancer genomics and inherited risk Journal Article


Authors: Stadler, Z. K.; Schrader, K. A.; Vijai, J.; Robson, M. E.; Offit, K.
Article Title: Cancer genomics and inherited risk
Abstract: Next-generation sequencing (NGS) has enabled whole-exome and whole-genome sequencing of tumors for causative mutations, allowing for more accurate targeting of therapies. In the process of sequencing the tumor, comparisons to the germline genome may identify variants associated with susceptibility to cancer as well as other hereditary diseases. Already, the combination of massively parallel sequencing and selective capture approaches has facilitated efficient simultaneous genetic analysis (multiplex testing) of large numbers of candidate genes. As the field of oncology incorporates NGS approaches into tumor and germline analyses, it has become clear that the ability to achieve high-throughput genotyping surpasses our current ability to interpret and appropriately apply the vast amounts of data generated from such technologies. A review of the current state of knowledge of rare and common genetic variants associated with cancer risk or treatment outcome reveals significant progress, as well as a number of challenges associated with the clinical translation of these discoveries. The combined efforts of oncologists, genetic counselors, and cancer geneticists will be required to drive the paradigm shift toward personalized or precision medicine and to ensure the incorporation of NGS technologies into the practice of preventive oncology.
Keywords: li-fraumeni syndrome; breast-cancer; ovarian-cancer; prostate-cancer; lung-cancer; cell; acute myeloid-leukemia; findings; susceptibility alleles; 5 genetic-variants; wide association; incidental
Journal Title: Journal of Clinical Oncology
Volume: 32
Issue: 7
ISSN: 0732-183X
Publisher: American Society of Clinical Oncology  
Date Published: 2014-03-01
Start Page: 687
End Page: 698
Language: English
ACCESSION: WOS:000332483100015
DOI: 10.1200/jco.2013.49.7271
PROVIDER: wos
PUBMED: 24449244
PMCID: PMC5795694
Notes: Article -- Source: Wos
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MSK Authors
  1. Kenneth Offit
    509 Offit
  2. Mark E Robson
    365 Robson
  3. Zsofia Kinga Stadler
    144 Stadler
  4. Vijai Joseph
    117 Joseph