Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shreya M Shah Elena V Demidova Salena Ringenbach Bulat Faezov Mark D Andrake Arjun Gandhi Pilar Mur Julen Viana-Errasti Joanne Xiu Jeffrey Swensen Laura Valle Roland L Dunbrack Michael J Hall Sanjeevani Arora

Published in: Cancer research communications (2024)

Somatic POLE ExoD driver mutations cause proofreading deficiency that induces high TMB. This study suggests a novel modifier role for POLE variants in POLE ExoD-driven tumors, associated with ultra-high TMB. These data, in addition to future functional studies, may inform tumor classification, therapeutic response, and patient outcomes.

Keyphrases

copy number
machine learning
deep learning
electronic health record
current status
big data
genome wide