RT Journal Article
SR Electronic
T1 Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML
JF Cancer Genomics - Proteomics
JO Cancer Genomics Proteomics
FD International Institute of Anticancer Research
SP 157
OP 166
DO 10.21873/cgp.20250
VO 18
IS 2
A1 HENRIK BANCK
A1 MARTIN DUGAS
A1 CARSTEN MÜLLER-TIDOW
A1 SARAH SANDMANN
YR 2021
UL http://cgp.iiarjournals.org/content/18/2/157.abstract
AB 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.