Journal Article DKFZ-2025-01742

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The Prognostic Value of the XPC rs2228001 Single Nucleotide Polymorphism in Cholangiocarcinoma.

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2025
Wiley-Blackwell Oxford

Liver international 45(9), e70292 () [10.1111/liv.70292]
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Abstract: Cholangiocarcinoma (CCA) is one of the most prevalent primary liver malignancies with increasing incidence and mortality rates, particularly in Southeast Asia. Surgical resection is a primary therapeutic option offered to patients with localised disease. Unfortunately, early disease recurrence is common and robust tools for tailored patient-centric post-operative management and follow-up schemes are highly desired but currently lacking. To address this unmet clinical need, this study investigated the clinical utility of the single nucleotide polymorphisms (SNPs) in DNA repair genes (ERCC5 rs1047768, APEX1 rs1130409, PARP1 rs1805414, XPC rs2228001 and ERCC5 rs873601) and patient prognosis after curative intent surgery.A cohort of 229 patients who underwent surgical treatment for intrahepatic (iCCA) and perihilar (pCCA) cholangiocarcinoma was examined. Kaplan-Meier and multivariable Cox regression analyses were used to assess the impact of these SNPs on recurrence-free survival (RFS), cancer-specific survival (CSS) and overall survival (OS).Within comprehensive multivariable analyses, the TT genotype of XPC rs2228001 was significantly associated with prolonged RFS (GG/GT = 1, HR = 0.50, p = 0.027), CSS (HR = 0.42, p = 0.018) and OS (HR = 0.31; p = 0.031) in iCCA. Similarly, in pCCA, the TT genotype of XPC rs2228001 was an independent prognostic factor for prolonged CSS (GG/GT = 1, HR = 0.48, p = 0.041).These findings suggest that SNPs in DNA repair genes, particularly XPC rs2228001, play a crucial role in modulating the prognosis of CCA.

Keyword(s): Humans (MeSH) ; Polymorphism, Single Nucleotide (MeSH) ; Cholangiocarcinoma: genetics (MeSH) ; Cholangiocarcinoma: surgery (MeSH) ; Cholangiocarcinoma: mortality (MeSH) ; Female (MeSH) ; Male (MeSH) ; Middle Aged (MeSH) ; Bile Duct Neoplasms: genetics (MeSH) ; Bile Duct Neoplasms: surgery (MeSH) ; Bile Duct Neoplasms: mortality (MeSH) ; DNA-Binding Proteins: genetics (MeSH) ; Aged (MeSH) ; Prognosis (MeSH) ; Kaplan-Meier Estimate (MeSH) ; Proportional Hazards Models (MeSH) ; Adult (MeSH) ; Genotype (MeSH) ; Multivariate Analysis (MeSH) ; XPC rs2228001 ; Cholangiocellular carcinoma ; DNA repair genes ; oncological outcome ; single nucleotide polymorphisms ; DNA-Binding Proteins ; XPC protein, human

Classification:

Contributing Institute(s):
  1. DKTK Koordinierungsstelle Essen/Düsseldorf (ED01)
Research Program(s):
  1. 899 - ohne Topic (POF4-899) (POF4-899)

Appears in the scientific report 2025
Database coverage:
Medline ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection
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 Record created 2025-08-22, last modified 2025-08-23


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