A1 Refereed original research article in a scientific journal

Database of recurrent mutations, an unbiased web resource to browse recurrent mutations in cancers




AuthorsChakroborty, Deepankar; Vaparanta, Katri; Ghimire, Bishwa; Paatero, Ilkka; Kurppa, Kari J.; Elenius, Klaus

PublisherCell Press

Publication year2026

Journal: iScience

Article number114561

Volume29

Issue2

eISSN2589-0042

DOIhttps://doi.org/10.1016/j.isci.2025.114561

Publication's open availability at the time of reportingOpen 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 addresshttps://research.utu.fi/converis/portal/detail/Publication/508591854

Self-archived copy's licenceCC BY

Self-archived copy's versionPublisher`s PDF


Abstract

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.


Last updated on 06/02/2026 11:09:11 AM