Associated Papers
Identification of an ERCC2 mutation associated mutational signature of nucleotide excision repair deficiency in targeted panel sequencing data.
Stojkova O et al.
Biorxiv : the Preprint Server for Biology, 2026
41757092 (PubMed )
Supplement: media-1.pdf
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1
Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.
Börcsök J et al.
The Journal of Clinical Investigation, 2025
40829180 (PubMed )
Supplement: jci-135-186688-s236.xlsx › Figure1CD
Similar genetic profile in early and late stage urothelial tract cancer.
Stormoen DR et al.
Journal of Cancer Research and Clinical Oncology, 2024
38976041 (PubMed )
Supplement: 432_2024_5850_MOESM2_ESM.xlsx › TCGA-cohort
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 2022
35846154 (PubMed )
Supplement: Table3.XLSX › BLCA_RNA_DNA_overlap
Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.
Tsutakawa SE et al.
Frontiers in Molecular Biosciences, 2021
34966786 (PubMed )
Supplement: Table3.XLSX › ERCC2
Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.
Nassar AH et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.3_Raw_SNV_and_small_indels
ERCC2 Helicase Domain Mutations Confer Nucleotide Excision Repair Deficiency and Drive Cisplatin Sensitivity in Muscle-Invasive Bladder Cancer.
Li Q et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019
Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors.
Kim J et al.
Nature Genetics, 2016
27111033 (PubMed )
Supplement: NIHMS774702-supplement-4.xlsx › COMB-279
The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-Cockayne syndrome-like phenotypes.
Herrera-Moyano E et al.
Plos Genetics, 2014
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