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Germline variants in CDKN2A wild-type melanoma prone families.
Mol Oncol
March 2025
Department of Clinical Science, K.G. Jebsen Center for Genome-Directed Cancer Therapy, University of Bergen, Bergen, Norway.
Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic variants in other genes have also been linked to melanoma, most familial cases remain unexplained. We assessed pathogenic germline variants in 360 cancer-related genes in 56 Norwegian melanoma-prone families.
View Article and Find Full Text PDFEmerging evidence suggests a complex interplay of environmental and genetic factors in non-small cell lung cancer (NSCLC) development. Among these factors, compromised DNA repair plays a critical but incompletely understood role in lung tumorigenesis and concurrent lung diseases, such as chronic obstructive lung disease (COPD). In this study, we investigated the interplay between cigarette smoke, DNA damage and repair, focusing on the Nucleotide Excision Repair (NER) protein Xeroderma Pigmentosum Group C (XPC).
View Article and Find Full Text PDFAssociation of XRCC1 (rs1799782) and XPD (rs13181) gene polymorphisms with renal failure risk in a sample of Iraqi population: a case-control study.
Mol Biol Rep
March 2025
Department of Chemistry, Faculty of Science, University of Kufa, Najaf, Iraq.
Background: End-stage chronic kidney disease (CKD) can lead to life-threatening complications and is caused primarily by CKD and cardiovascular issues. CKD is characterized by the inability of the kidneys to filter waste and excess fluids from the blood. This study investigated the associations of the genetic variants XRCC1 rs1799782 (C194T) and ERCC2/XPD rs25487 (Q399R) with CKD susceptibility in Iraqi patients and related biochemical changes.
View Article and Find Full Text PDFImmune checkpoint inhibitors for children with xeroderma pigmentosum and advanced cutaneous squamous cell carcinoma: A case presentation and brief review.
J Dtsch Dermatol Ges
March 2025
Department of Dermatology, Venereology, and Allergology, Helios St. Johannes Hospital Duisburg, Duisburg, Germany.
Patients with xeroderma pigmentosum (XP) frequently develop skin cancers early in life, including cutaneous squamous cell carcinoma (cSCC). The median age of death is 32 years and 60% of XP patients die before the age of 20 years. cSCC in patients with XP exhibits an exceptionally high mutation burden, suggesting a favorable response to immune checkpoint inhibitors (ICIs).
View Article and Find Full Text PDFMolecular insights into genodermatoses: Genetic findings from 43 patients.
Arch Dermatol Res
March 2025
Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
Genodermatoses, a group of inherited skin disorders, are characterized by significant genetic heterogeneity and clinical variability, often posing diagnostic and therapeutic challenges. Advances in next-generation sequencing (NGS) technologies, such as whole exome sequencing (WES) and clinical exome sequencing (CES), have transformed the diagnostic landscape by enabling comprehensive genetic analysis. This study aimed to investigate the molecular spectrum and clinical relevance of genetic findings in 43 patients diagnosed with genodermatoses.
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