Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?

Cleo Keppens, Veronique Tack, Kelly Dufraing, Etienne Rouleau, Marjolijn J. L. Ligtenberg, Ed Schuuring, Elisabeth M. C. Dequeker*

*Corresponding author for this work

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A standardized nomenclature for reporting oncology biomarker variants is key to avoid misinterpretation of results and unambiguous registration in clinical databases. External quality assessment (EQA) schemes have revealed a need for more consistent nomenclature use in clinical genetics. We evaluated the propensity of EQA for improvement of compliance with Human Genome Variation Society (HGVS) recommendations for reporting of predictive somatic variants in lung and colorectal cancer. Variant entries between 2012 and 2018 were collected from written reports and electronic results sheets. In total, 4,053 variants were assessed, of which 12.1% complied with HGVS recommendations. Compliance improved over time from 2.1% (2012) to 22.3% (2018), especially when laboratories participated in multiple EQA schemes. Compliance was better for next-generation sequencing (20.9%) compared with targeted techniques (9.8%). In the 1792 reports, HGVS recommendations for reference sequences were met for 31.9% of reports, for 36.0% of noncommercial, and 26.5% of commercial test methods. Compliance improved from 16.7% (2012) to 33.1% (2018), and after repeated EQA participation. EQA participation improves compliance with HGVS recommendations. The residual percentage of errors in the most recent schemes suggests that laboratories, companies, and EQA providers need to collaborate for additional improvement of harmonization in clinical test reporting.

Original languageEnglish
Number of pages10
JournalHuman Mutation
Publication statusE-pub ahead of print - 14-Oct-2019


  • biomarker variant reporting
  • colorectal cancer
  • external quality assessment
  • HGVS recommendations
  • lung cancer
  • nomenclature
  • proficiency testing
  • round robin
  • BRCA1

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