A1 Refereed original research article in a scientific journal
Database of recurrent mutations, an unbiased web resource to browse recurrent mutations in cancers
Authors: Chakroborty, Deepankar; Vaparanta, Katri; Ghimire, Bishwa; Paatero, Ilkka; Kurppa, Kari J.; Elenius, Klaus
Publisher: Cell Press
Publication year: 2026
Journal: iScience
Article number: 114561
Volume: 29
Issue: 2
eISSN: 2589-0042
DOI: https://doi.org/10.1016/j.isci.2025.114561
Publication's open availability at the time of reporting: Open Access
Publication channel's open availability : Open Access publication channel
Web address : https://doi.org/10.1016/j.isci.2025.114561
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/508591854
Self-archived copy's licence: CC BY
Self-archived copy's version: Publisher`s PDF
Existing cancer-associated variant databases contain biases arising from duplicate entries and the inclusion of targeted sequencing panels, which interfere with accurate estimation somatic mutation frequency in cancer cohorts. To address this, we developed the Database of Recurrent Mutations (DORM), a web resource derived exclusively from whole-genome and whole-exome sequencing data. By filtering out targeted screens and non-recurrent variants, our analysis reveals that mutation recurrence significantly correlates with oncogenic activity, loss of tumor suppressor function, and unfavorable patient prognosis. In a pan-cancer analysis of EGFR, DORM identified frequent mutations outside the kinase domain that are underrepresented in other databases. This resource offers a streamlined, unbiased platform for mutation frequency analysis, enhancing biomarker discovery and the assessment of clinical variant significance.
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Funding information in the publication:
The Cancer Foundation Finland, Novo Nordisk Foundation, Research Council of Finland, Sigrid Juselius Foundation, and Turku University Central Hospital are acknowledged for financial support.