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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.

Publication ,  Journal Article
Li, MM; Datto, M; Duncavage, EJ; Kulkarni, S; Lindeman, NI; Roy, S; Tsimberidou, AM; Vnencak-Jones, CL; Wolff, DJ; Younes, A; Nikiforova, MN
Published in: J Mol Diagn
January 2017

Widespread clinical laboratory implementation of next-generation sequencing-based cancer testing has highlighted the importance and potential benefits of standardizing the interpretation and reporting of molecular results among laboratories. A multidisciplinary working group tasked to assess the current status of next-generation sequencing-based cancer testing and establish standardized consensus classification, annotation, interpretation, and reporting conventions for somatic sequence variants was convened by the Association for Molecular Pathology with liaison representation from the American College of Medical Genetics and Genomics, American Society of Clinical Oncology, and College of American Pathologists. On the basis of the results of professional surveys, literature review, and the Working Group's subject matter expert consensus, a four-tiered system to categorize somatic sequence variations based on their clinical significances is proposed: tier I, variants with strong clinical significance; tier II, variants with potential clinical significance; tier III, variants of unknown clinical significance; and tier IV, variants deemed benign or likely benign. Cancer genomics is a rapidly evolving field; therefore, the clinical significance of any variant in therapy, diagnosis, or prognosis should be reevaluated on an ongoing basis. Reporting of genomic variants should follow standard nomenclature, with testing method and limitations clearly described. Clinical recommendations should be concise and correlate with histological and clinical findings.

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Published In

J Mol Diagn

DOI

EISSN

1943-7811

Publication Date

January 2017

Volume

19

Issue

1

Start / End Page

4 / 23

Location

United States

Related Subject Headings

  • Reference Standards
  • Pathology
  • Neoplasms
  • Molecular Sequence Annotation
  • Molecular Diagnostic Techniques
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genetic Testing
  • Databases, Genetic
  • DNA Mutational Analysis
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Li, M. M., Datto, M., Duncavage, E. J., Kulkarni, S., Lindeman, N. I., Roy, S., … Nikiforova, M. N. (2017). Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn, 19(1), 4–23. https://doi.org/10.1016/j.jmoldx.2016.10.002
Li, Marilyn M., Michael Datto, Eric J. Duncavage, Shashikant Kulkarni, Neal I. Lindeman, Somak Roy, Apostolia M. Tsimberidou, et al. “Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.J Mol Diagn 19, no. 1 (January 2017): 4–23. https://doi.org/10.1016/j.jmoldx.2016.10.002.
Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017 Jan;19(1):4–23.
Journal cover image

Published In

J Mol Diagn

DOI

EISSN

1943-7811

Publication Date

January 2017

Volume

19

Issue

1

Start / End Page

4 / 23

Location

United States

Related Subject Headings

  • Reference Standards
  • Pathology
  • Neoplasms
  • Molecular Sequence Annotation
  • Molecular Diagnostic Techniques
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genetic Testing
  • Databases, Genetic
  • DNA Mutational Analysis