A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Database of recurrent mutations, an unbiased web resource to browse recurrent mutations in cancers
Tekijät: Chakroborty, Deepankar; Vaparanta, Katri; Ghimire, Bishwa; Paatero, Ilkka; Kurppa, Kari J.; Elenius, Klaus
Kustantaja: Cell Press
Julkaisuvuosi: 2026
Lehti: iScience
Artikkelin numero: 114561
Vuosikerta: 29
Numero: 2
eISSN: 2589-0042
DOI: https://doi.org/10.1016/j.isci.2025.114561
Julkaisun avoimuus kirjaamishetkellä: Avoimesti saatavilla
Julkaisukanavan avoimuus : Kokonaan avoin julkaisukanava
Verkko-osoite: https://doi.org/10.1016/j.isci.2025.114561
Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/detail/Publication/508591854
Rinnakkaistallenteen lisenssi: CC BY
Rinnakkaistallennetun julkaisun versio: Kustantajan versio
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.
Ladattava julkaisu This is an electronic reprint of the original article. |
Julkaisussa olevat rahoitustiedot:
The Cancer Foundation Finland, Novo Nordisk Foundation, Research Council of Finland, Sigrid Juselius Foundation, and Turku University Central Hospital are acknowledged for financial support.