PDGFRA, KIT, and KDR Gene Amplification in Glioblastoma: Heterogeneity and Clinical Significance

Medicine, Neurosurgery, Oncology,
glioblastoma   PDGFRA   KIT   KDR   genetic heterogeneity   FISH  

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 in Next-Generation Sequencing-Based Genotyping of Breast Cancer Polygenic Risk Score Loci

Medicine, Medical Laboratory Science, Oncology, Life Sciences, Biochemistry, Genetics,
Next-Generation Sequencing   Breast Cancer   Polygenic Risk Score   Genotyping   Variant Allele Frequencies   Genetic Counseling   Bioinformatics  

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 Tumour Predisposition: A Broader Spectrum of Associated Malignancies and Proposal for Additional Screening Program

Medicine, Oncology, Life Sciences, Genetics,
POT1   tumour predisposition   gene variants   screening program   familial cancer   malignancy   chromosome  

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, HLA and Polygenic Risk Score Analyses for Prevalent and Persistent Cervical Human Papillomavirus (HPV) Infections

Medicine, Infectious Diseases, Obstetrics and Gynecology, Oncology, Life Sciences, Biochemistry, Immunology, Genetics,
Genome   HLA   Polygenic Risk Score   Cervical HPV   Persistent Infection  

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...

Actionability and Familial Uptake Following Opportunistic Genomic Screening in a Pediatric Cancer Cohort

Medicine, Pediatrics, Psychiatry, Oncology, Cardiovascular System, Life Sciences, Genetics,
Opportunistic Genomic Screening   Familial Uptake   Pediatric Cancer   Medical Actionability   Cascade Testing   Genetic Counseling  

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 Recessive Effect of Human Polymerase δ Proofreading Deficiency through Mutational Analysis

Discovery of Recessive Effect of Human Polymerase δ Proofreading Deficiency through Mutational Analysis

Medicine, Medical Laboratory Science, Oncology, Life Sciences, Genetics,
Polymerase δ   Proofreading deficiency   Polyposis   Colorectal cancer   Mutational analysis   Tumorigenesis   Cancer predisposition  

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...