Our analysis focused on variants identified among 20 genes associated with autosomal dominant cancer-predisposition syndromes that involve maintenance of DNA integrity (Table 2 ). The pathogenicity of germline variants was determined according to established American College of Medical Genetics and Genomics and Association for Molecular Pathology consensus criteria and International Agency for Research on Cancer guidelines.24 (link),26 At least two independent expert reviewers evaluated all variants against published literature and public databases, including ClinVar and variant-specific databases, in addition to population frequency databases, including 1000 Genomes and the Exome Aggregation Consortium. Expected high-penetrance or moderate-penetrance variants classified as mutations that are pathogenic or likely to be pathogenic are reported here. Low-penetrance variants, such as CHEK2 p.I157T, were excluded.
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Autosomal Dominant Cancer Variant Analysis
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Other organizations : University of Washington, Royal Marsden Hospital, Memorial Sloan Kettering Cancer Center, Fred Hutch Cancer Center, Cornell University, Dana-Farber Cancer Institute, University of Michigan–Ann Arbor, Howard Hughes Medical Institute
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Variable analysis
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- Variants identified among 20 genes associated with autosomal dominant cancer-predisposition syndromes that involve maintenance of DNA integrity
- Pathogenicity of germline variants, classified as mutations that are pathogenic or likely to be pathogenic
- The pathogenicity of germline variants was determined according to established American College of Medical Genetics and Genomics and Association for Molecular Pathology consensus criteria and International Agency for Research on Cancer guidelines
- At least two independent expert reviewers evaluated all variants against published literature and public databases, including ClinVar and variant-specific databases, in addition to population frequency databases, including 1000 Genomes and the Exome Aggregation Consortium
- Low-penetrance variants, such as CHEK2 p.I157T, were excluded
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