The DOI matches its Crossref record; 42 of the 42 references it cites were found in a registry or an index.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)
Open accessAbstract
Purpose Several professional societies have published guidelines for the clinical interpretation of somatic variants, which specifically address diagnostic, prognostic, and therapeutic implications. While these guidelines for the clinical interpretation of variants include data types that may be used to determine the oncogenicity of a variant (e.g., population frequency, functional and in silico data or somatic frequency), they do not provide a direct, systematic, and comprehensive set of standards and rules to classify the oncogenicity of a somatic variant. This insufficient guidance leads to inconsistent classification of rare somatic variants in cancer, generates variability in their clinical interpretation and importantly impacts patient care. Therefore, it’s essential to address this unmet need. Methods Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group and ClinGen Germline/Somatic Variant Subcommittee, the Cancer Genomics Consortium (CGC), and the Variant Interpretation for Cancer Consortium (VICC) used a consensus approach to develop a Standard Operating Procedure (SOP) for the classification of oncogenicity of somatic variants. Results This comprehensive SOP has been developed to improve consistency in somatic variant classification, and has been validated on 94 somatic variants in ten common cancer-related genes. Conclusion The comprehensive SOP is now available for classification of oncogenicity of a somatic variant.
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Metadata
- Authors
- Horak, P., Griffith, M., Danos, A. M., Pitel, B. A., Madhavan, S., Liu, X., Chow, C., Williams, H., Carmody, L., Barrow-Laing, L., Rieke, D., Kreutzfeldt, S., Stenzinger, A., Tamborero, D., Benary, M., Rajagopal, P. S., Ida, C. M., Lesmana, H., Satgunaseelan, L., Merker, J. D., Tolstorukov, M. Y., Campregher, P. V., Warner, J. L., Rao, S., Natesan, M., Shen, H., Venstrom, J., Roy, S., Tao, K., Kanagal-Shamanna, R., Xu, X., Ritter, D. I., Pagel, K., Krysiak, K., Dubuc, A., Akkari, Y. M., Li, X. S., Lee, J., King, I., Raca, G., Wagner, A. H., Li, M. M., Plon, S. E., Kulkarni, S., Griffith, O. L., Chakravarty, D., & Sonkin, D.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2022-05
- Volume
- 24
- Issue
- 5
- Pages
- 986-998
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W4210412949
- Cited by
- 257
- References
- 42
- FWCI
- 26.25
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Horak, P., Griffith, M., Danos, A. M., Pitel, B. A., Madhavan, S., Liu, X., Chow, C., Williams, H., Carmody, L., Barrow-Laing, L., Rieke, D., Kreutzfeldt, S., Stenzinger, A., Tamborero, D., Benary, M., Rajagopal, P. S., Ida, C. M., Lesmana, H., Satgunaseelan, L., . . . Sonkin, D. (2022). Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genetics in Medicine. https://doi.org/10.1016/j.gim.2022.01.001
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