Comparison of open-access databases for clinical variant interpretation in cancer

• Verfasst von: Banck, Henrik [VerfasserIn]
• Verfasst von: Dugas, Martin [VerfasserIn]
• Verfasst von: Müller-Tidow, Carsten [VerfasserIn]
• Verfasst von: Sandmann, Sarah [VerfasserIn]
• Titel: Comparison of open-access databases for clinical variant interpretation in cancer
• Titelzusatz: a case study of MDS/AML
• Verf.angabe: Henrik Banck, Martin Dugas, Carsten Müller-Tidow and Sarah Sandmann
• E-Jahr: 2021
• Jahr: February 19, 2021
• Umfang: 10 S.
• Fussnoten: Gesehen am 22.04.2021
• Titel Quelle: Enthalten in: Cancer genomics & proteomics
• Ort Quelle: Kapandriti : Inst., 2004
• Jahr Quelle: 2021
• Band/Heft Quelle: 18(2021), 2, Seite 157-166
• ISSN Quelle: 1790-6245
• DOI: doi:10.21873/cgp.20250
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: mutation databases
• Sach-SW: somatic variants in cancer
• Sach-SW: Variant interpretation
• K10plus-PPN: 1755746296

Abstract

Background: Recently, guidelines for variant interpretation in cancer have been established. However, these guidelines do not mention which databases are most suited to performing this task. Materials and Methods: We give an overview of existing databases and evaluate their benefit in practical application. We compared three meta-databases and 12 databases for a dataset of patients with myelodysplastic syndrome or acute myeloid leukemia. Results: Clinical implications were found for 13% of all variants. One-third of variants with therapeutic implications were uniquely contained in one database. The VICC meta-database was the most extensive source of information, featuring 92% of variants with a drug association. However, a comparison of meta-databases and original sources indicated that some variants are missing in those meta-databases. Conclusion: Public databases provide decision support for interpreting variants but there is still need for manual curation. Meta-databases facilitate the use of multiple resources but should be interpreted with caution.