Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.S44L
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ERCC2

NM_000400.4:p.S44L

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

Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.

Börcsök J et al.

The Journal of Clinical Investigation, 2025

ERCC2 mutations alter the genomic distribution pattern of somatic mutations and are independently prognostic in bladder cancer.

Barbour JA et al.

Cell Genomics, 2024

39096913 (PubMed )
Supplement: mmc1.pdf

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

Genomic Tumor Correlates of Clinical Outcomes Following Organ-Sparing Chemoradiation Therapy for Bladder Cancer.

Kamran SC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

37870965 (PubMed )
Supplement: ccr-23-0792_supplementary_table_s4_suppst4.xlsx › ChemoTrialGenes

Multiparametric Classification of Non-Muscle Invasive Papillary Urothelial Neoplasms: Combining Morphological, Phenotypical, and Molecular Features for Improved Risk Stratification.

Montes-Mojarro IA et al.

International Journal of Molecular Sciences, 2022

35897708 (PubMed )
Supplement: ijms-23-08133-s001.zip › ijms-1819103-supplementary.pdf

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

Integrated molecular and pharmacological characterization of patient-derived xenografts from bladder and ureteral cancers identifies new potential therapies.

Lang H et al.

Frontiers in Oncology, 2022

36033544 (PubMed )
Supplement: Table_4.xlsx › Variants

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

Pure high-grade papillary urothelial bladder cancer: a luminal-like subgroup with potential for targeted therapy.

Schnitzler T et al.

Cellular Oncology (dordrecht, Netherlands), 2020

32445084 (PubMed )
Supplement: 13402_2020_524_MOESM7_ESM.xlsx › ESM_7

Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer.

Shi MJ et al.

Genome Medicine, 2020

32988402 (PubMed )
Supplement: 13073_2020_781_MOESM1_ESM.xlsx › 130_hotspot_mutation_in_BCa

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1

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

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Jean S et al.

Oncotarget, 2016

27191893 (PubMed )
Supplement: oncotarget-07-48577-s002.xlsx › Sheet1

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 › BGI-99

ERBB2 Mutations Characterize a Subgroup of Muscle-invasive Bladder Cancers with Excellent Response to Neoadjuvant Chemotherapy.

Groenendijk FH et al.

European Urology, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."