National Center for Tumor Diseases (NCT), German Cancer Research Center (DKFZ), Heidelberg, Germany.
Washington University School of Medicine in St. Louis, St. Louis, MO.
Genet Med. 2022 May;24(5):986-998. doi: 10.1016/j.gim.2022.01.001. Epub 2022 Jan 29.
Several professional societies have published guidelines for the clinical interpretation of somatic variants, which specifically address diagnostic, prognostic, and therapeutic implications. Although these guidelines for the clinical interpretation of variants include data types that may be used to determine the oncogenicity of a variant (eg, 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, affects patient care. Therefore, it is essential to address this unmet need.
Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group and ClinGen Germline/Somatic Variant Subcommittee, the Cancer Genomics Consortium, and the Variant Interpretation for Cancer Consortium used a consensus approach to develop a standard operating procedure (SOP) for the classification of oncogenicity of somatic variants.
This comprehensive SOP has been developed to improve consistency in somatic variant classification and has been validated on 94 somatic variants in 10 common cancer-related genes.
The comprehensive SOP is now available for classification of oncogenicity of somatic variants.
一些专业协会已经发布了体细胞变异临床解读的指南，这些指南特别涉及到诊断、预后和治疗的影响。虽然这些体细胞变异临床解读指南包括了可用于确定变异致癌性的数据类型（例如，人群频率、功能和计算机模拟数据或体细胞频率），但它们没有提供直接、系统和全面的标准和规则来对体细胞变异的致癌性进行分类。这种指导不足导致了癌症中罕见体细胞变异的分类不一致，导致其临床解读的可变性，并且重要的是，影响了患者的治疗。因此，解决这一未满足的需求至关重要。
临床基因组资源（ClinGen）体细胞癌症临床领域工作组和 ClinGen 种系/体细胞变异小组委员会、癌症基因组联盟以及癌症变异解读联盟采用共识方法制定了体细胞变异致癌性分类的标准操作程序（SOP）。
本综合 SOP 的制定旨在提高体细胞变异分类的一致性，并已在 10 个常见癌症相关基因中的 94 个体细胞变异中得到验证。
现在有了用于体细胞变异致癌性分类的综合 SOP。
