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

dc.contributor.authorChakroborty, Deepankar
dc.contributor.authorVaparanta, Katri
dc.contributor.authorGhimire, Bishwa
dc.contributor.authorPaatero, Ilkka
dc.contributor.authorKurppa, Kari J.
dc.contributor.authorElenius, Klaus
dc.contributor.organizationfi=biolääketieteen laitos|en=Institute of Biomedicine|
dc.contributor.organizationfi=Turun biotiedekeskus|en=Turku Bioscience Centre|
dc.contributor.organizationfi=InFLAMES Lippulaiva|en=InFLAMES Flagship|
dc.contributor.organization-code1.2.246.10.2458963.20.77952289591
dc.contributor.organization-code1.2.246.10.2458963.20.18586209670
dc.contributor.organization-code1.2.246.10.2458963.20.68445910604
dc.converis.publication-id508591854
dc.converis.urlhttps://research.utu.fi/converis/portal/Publication/508591854
dc.date.accessioned2026-04-24T16:45:14Z
dc.description.abstract<p>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.<br></p>
dc.identifier.eissn2589-0042
dc.identifier.urihttps://www.utupub.fi/handle/11111/58820
dc.identifier.urlhttps://doi.org/10.1016/j.isci.2025.114561
dc.identifier.urnURN:NBN:fi-fe2026022315491
dc.language.isoen
dc.okm.affiliatedauthorChakroborty, Deepankar
dc.okm.affiliatedauthorVaparanta, Katri
dc.okm.affiliatedauthorGhimire, Bishwa
dc.okm.affiliatedauthorPaatero, Ilkka
dc.okm.affiliatedauthorKurppa, Kari
dc.okm.affiliatedauthorElenius, Klaus
dc.okm.discipline1184 Genetics, developmental biology, physiologyen_GB
dc.okm.internationalcopublicationinternational co-publication
dc.okm.internationalityInternational publication
dc.okm.typeA1 ScientificArticle
dc.publisherCell Press
dc.publisher.countryNetherlandsen_GB
dc.publisher.countryAlankomaatfi_FI
dc.publisher.country-codeNL
dc.relation.articlenumber114561
dc.relation.doi10.1016/j.isci.2025.114561
dc.relation.ispartofjournaliScience
dc.relation.issue2
dc.relation.volume29
dc.titleDatabase of recurrent mutations, an unbiased web resource to browse recurrent mutations in cancers
dc.year.issued2026

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