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.

Journal Article (Journal Article;Review)

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.

Full Text

Duke Authors

Cited Authors

  • Li, MM; Datto, M; Duncavage, EJ; Kulkarni, S; Lindeman, NI; Roy, S; Tsimberidou, AM; Vnencak-Jones, CL; Wolff, DJ; Younes, A; Nikiforova, MN

Published Date

  • January 2017

Published In

Volume / Issue

  • 19 / 1

Start / End Page

  • 4 - 23

PubMed ID

  • 27993330

Pubmed Central ID

  • PMC5707196

Electronic International Standard Serial Number (EISSN)

  • 1943-7811

Digital Object Identifier (DOI)

  • 10.1016/j.jmoldx.2016.10.002


  • eng

Conference Location

  • United States