A New Differential Diagnosis Method Based on miRNA Background Introduction Neuromuscular Disorders (NMDs) are a class of chronic diseases that consistently progress to muscle atrophy. Although certain diseases such as Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Congenital Muscular Dystrophy (CMD), Limb-Girdle Muscular Dystro...
Association of NID2 gene single nucleotide polymorphisms with glioma risk and prognosis in Chinese Han population Academic Background Glioma is the most common primary intracranial tumor, characterized by high mortality and poor prognosis. Despite some progress in diagnostic and treatment strategies, conventional therapies have limited improvement ...
Pediatric medulloblastoma (MB) is the most common malignant pediatric brain tumor. Due to its unique molecular and clinical characteristics, the treatment of this type of tumor has been a focus of clinical research. Existing treatments mainly include maximal surgical resection, radiotherapy, and chemotherapy, but these treatments often lead to long...
Brain Glioblastoma PDGFRA, KIT and KDR Gene Amplification: Heterogeneity and Its Clinical Significance Academic Background Glioblastoma (GBM) is the most common malignant tumor of the central nervous system, with its heterogeneity posing significant challenges in treatment. GBM exhibits cellular genetic and phenotypic diversity not only between dif...
Limitations of Next-Generation Sequencing-Based Genotyping for Breast Cancer Polygenic Risk Score Loci Background Introduction In the prediction of hereditary Breast Cancer (BC), Polygenic Risk Scores (PRSs) are increasingly being used as an important tool for individual risk prediction. The calculation of PRS relies on accurately reproducing varia...
POT1 Tumor Susceptibility Research: A Broader Spectrum of Related Malignancies and Recommendations for Additional Screening Plans Research Background POT1 (Protection of Telomeres Protein 1) is an important component of the Shelterin telomere-binding complex, responsible for regulating telomere length. Some pathogenic variants (PVs) of the POT1 gen...
Genome-wide and Polygenic Risk Score Analysis of High-Risk Human Papillomavirus (hrHPV) Infection in the Cervix Background Cervical high-risk human papillomavirus (hrHPV) infection is the second largest carcinogenic infection globally, accounting for approximately 31.4% of all infection-related cancers (about 690,000 cases out of 2.2 million cancer...
Feasibility Study of Opportunistic Genomic Screening in Pediatric Cancer Patients and Its Family Acceptance Research Background With the development and application of genomic medicine, the care for patients with severe diseases is gradually being optimized. Especially in the field of childhood cancer, whole-genome series DNA testing has become an ...
Discovery of the Recessive Effect of Human Polymerase δ Proofreading Deficiency: Through Mutation Analysis of Normal Cells and Cancer Cells with POLD1 Mutations Background Introduction The disruption of DNA repair is one of the main mechanisms leading to hereditary cancer. Heterozygous pathogenic variants in the exonic regions of POLD1 and POLE aff...
Analysis of Lynch Syndrome Diagnostic Pathway Introduction Lynch Syndrome (LS) is a hereditary cancer susceptibility syndrome that primarily leads to the occurrence of colorectal cancer (CRC), endometrial cancer, and several other types of cancer. Although the incidence of Lynch Syndrome among cancer patients and its importance to public health hav...