Portal de Periódicos da CAPES

Abstracts

2016; Elsevier BV; Volume: 18; Issue: 6 Linguagem: Inglês

10.1016/s1525-1578(16)30178-7

1943-7811

Melissa Landrum, Jennifer M. Lee, M D Benson, George Bosworth Brown, Chao Chen, Shanmuga Chitipiralla, Bohong Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang, Kenneth Katz, Michael Ovetsky, George Riley, Amanjeev Sethi, R. Tully, Wendy S. Rubinstein, Donna Maglott, W. Xu, Carly Sims, T Cavness, Nelson Lee, Alejandra Goldman, Mi Ta, S Covic, Kenta Hamada, C Ambrosius, S Opie, Noemi Vidal‐Folch, Dragana Milosevic, Ramanath Majumdar, Dimitar Gavrilov, Dietrich Matern, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Remita Mary Abraham, Devin Oglesbee, Massimiliano Corsi Romanelli, Elena Dozio, Alexander Sigrüner, Alessandro Parolari, Gerd Schmitz, Elena Vianello, Diana Mandelker, Y Li, Megha Prasad, Asad Syed, Archana Balakrishnan, Raghu Chandramohan, Deborah F. DeLair, S Argueta, Chen Yang, Angela G. Arnold, Michael F. Walsh, Zsofia K. Stadler, Mark E. Robson, Kenneth Offit, Michael F. Berger, Ahmet Zehir, Marc Ladanyi, L Zhang,

Introduction: ClinVar is a public archive of variants and interpretations of their clinical significance.Interpretations are provided by clinical testing laboratories, research laboratories, locus-specific databases, OMIM and GeneReviews, as well as expert panels and practice guidelines.ClinVar has a broad scope, including sequence and structural variants; simple and complex alleles, chromosomal and mitochondrial; and both germline and somatic origins.Methods: ClinVar currently has interpretations for more than 2000 somatic variants in more than 850 genes, including BRCA1, BRCA2, EGFR, RB1, PIK3CA, KRAS, BRAF, FGFR3, and TP53.Interpretations for somatic variants are specific to the type of tumor in which the variant was observed and interpreted; therefore a variant may have multiple interpretations for different tumor types.The interpretation may indicate whether the variant contributes to pathogenicity (tumorigenicity or disease progression) or it may indicate whether the variant affects an individual's response to a drug.Evidence for the interpretation may include observations of individuals or groups of individuals with the variant.Observations of individuals may include age, sex, ethnicity; fields specific to somatic variants will be added based on feedback from the community.Evidence for an interpretation may also include literature citations or experimental assays that describe the functional significance of the variant.Results: Interpretations for the same variant are aggregated in ClinVar so that consensus or conflict is apparent, and submitted interpretations and evidence may be viewed together.A search for somatic variants in ClinVar may use a gene symbol, a variant name, the name of a tumor type, or a drug name.The search results page includes filters which can be used to narrow down the results; for example, results can be filtered to include only somatic variants reported from clinical testing.Conclusions: ClinVar welcomes additional submissions of any type of variant through the ClinVar Submission Portal (https://submit.ncbi.nlm.nih.gov/clinvar/).