A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä

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




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

KustantajaCell Press

Julkaisuvuosi2026

Lehti: iScience

Artikkelin numero114561

Vuosikerta29

Numero2

eISSN2589-0042

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

Julkaisun avoimuus kirjaamishetkelläAvoimesti saatavilla

Julkaisukanavan avoimuus Kokonaan avoin julkaisukanava

Verkko-osoitehttps://doi.org/10.1016/j.isci.2025.114561

Rinnakkaistallenteen osoitehttps://research.utu.fi/converis/portal/detail/Publication/508591854

Rinnakkaistallenteen lisenssiCC BY

Rinnakkaistallennetun julkaisun versioKustantajan versio


Tiivistelmä

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.
This reprint may differ from the original in pagination and typographic detail. Please cite the original version.




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.


Last updated on