دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: ERCC2 mutations alter the genomic distribution pattern of somatic mutations and are independently prognostic in bladder cancer.
المؤلفون: Barbour JA; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Ou T; Urology Institute of Shenzhen University, The Third Affiliated Hospital of Shenzhen University, Shenzhen University, Shenzhen, China., Yang H; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Fang H; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Institute of Biomedical Data, South China Hospital, Medical School, Shenzhen University, Shenzhen, China., Yue NC; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Zhu X; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Wong-Brown MW; Centre for Drug Repurposing and Medicines Research, University of Newcastle, Newcastle, NSW, Australia; Hunter Medical Research Institute, Newcastle, NSW, Australia., Wong YT; Adult Cancer Program, Lowy Cancer Research Centre, UNSW, Sydney, NSW, Australia., Bowden NA; Centre for Drug Repurposing and Medicines Research, University of Newcastle, Newcastle, NSW, Australia; Hunter Medical Research Institute, Newcastle, NSW, Australia., Wu S; Urology Institute of Shenzhen University, The Third Affiliated Hospital of Shenzhen University, Shenzhen University, Shenzhen, China; Department of Urology, South China Hospital, Medical School, Shenzhen University, Shenzhen, China. Electronic address: wusong@szu.edu.cn., Wong JWH; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Centre for Oncology and Immunology, Hong Kong Science Park, Hong Kong SAR, China; Centre for PanorOmic Sciences, The University of Hong Kong, Pokfulam, Hong Kong SAR, China. Electronic address: jwhwong@hku.hk.
المصدر: Cell genomics [Cell Genom] 2024 Aug 14; Vol. 4 (8), pp. 100627. Date of Electronic Publication: 2024 Aug 02.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [New York] : Elsevier, Inc., [2021]-
مواضيع طبية MeSH: Urinary Bladder Neoplasms*/genetics , Xeroderma Pigmentosum Group D Protein*/genetics , Mutation*, Humans ; Prognosis
مستخلص: Excision repair cross-complementation group 2 (ERCC2) encodes the DNA helicase xeroderma pigmentosum group D, which functions in transcription and nucleotide excision repair. Point mutations in ERCC2 are putative drivers in around 10% of bladder cancers (BLCAs) and a potential positive biomarker for cisplatin therapy response. Nevertheless, the prognostic significance directly attributed to ERCC2 mutations and its pathogenic role in genome instability remain poorly understood. We first demonstrated that mutant ERCC2 is an independent predictor of prognosis in BLCA. We then examined its impact on the somatic mutational landscape using a cohort of ERCC2 wild-type (n = 343) and mutant (n = 39) BLCA whole genomes. The genome-wide distribution of somatic mutations is significantly altered in ERCC2 mutants, including T[C>T]N enrichment, altered replication time correlations, and CTCF-cohesin binding site mutation hotspots. We leverage these alterations to develop a machine learning model for predicting pathogenic ERCC2 mutations, which may be useful to inform treatment of patients with BLCA.
Competing Interests: Declaration of interests The authors declare no competing interests.
(Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)
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فهرسة مساهمة: Keywords: APOBEC; CTCF-cohesin binding site; ERCC2; XPD; bladder cancer; somatic mutations; uracil
المشرفين على المادة: EC 3.6.4.12 (Xeroderma Pigmentosum Group D Protein)
EC 5.99.- (ERCC2 protein, human)
تواريخ الأحداث: Date Created: 20240803 Date Completed: 20240815 Latest Revision: 20240924
رمز التحديث: 20240924
مُعرف محوري في PubMed: PMC11406173
DOI: 10.1016/j.xgen.2024.100627
PMID: 39096913
قاعدة البيانات: MEDLINE
الوصف
تدمد:2666-979X
DOI:10.1016/j.xgen.2024.100627