Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

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