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

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

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

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...

Identification of People with Lynch Syndrome from Those Presenting with Colorectal Cancer in England: Baseline Analysis of the Diagnostic Pathway

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...

Experiences of Pediatric Cancer Patients with Extensive Germline Sequencing for Cancer Predisposition: A Qualitative Study

Qualitative Study Report on the Experience of Extensive Germline Sequencing in Children with Cancer Aged 12-18 Background Introduction With the development of genetic sequencing technology, germline DNA sequencing has gradually become a routine practice in pediatric cancer care. Recent studies estimate that about 10% of children with cancer have ge...

A 39 kb Structural Variant Causing Lynch Syndrome Detected by Optical Genome Mapping and Nanopore Sequencing

Detection of a 39 kb structural variant causing Lynch syndrome using optical genome mapping and nanopore sequencing Research Background Lynch syndrome (LS) is a hereditary cancer syndrome primarily caused by pathogenic germline variants in four genes of the MMR (mismatch repair) gene family: MLH1, MSH2, MSH6, and PMS2. This syndrome is characterize...

Targeting the Glucocorticoid Receptor-CCR8 Axis Mediated Bone Marrow T Cell Sequestration Enhances Infiltration of Anti-Tumor T Cells in Intracranial Cancers

Research Targeting Glucocorticoid Receptor-CCR8 Axis Mediated Bone Marrow T Cell Sequestration to Enhance Anti-tumor T Cell Infiltration in Intracranial Cancer Background Brain tumors, especially glioblastomas (GBMs), show significant resistance to immune checkpoint blockade therapy, partly due to limited T cell infiltration into tumors. GBMs accou...

Lipid Droplet Accumulation Mediates Macrophage Survival and Treg Recruitment via the CCL20/CCR6 Axis in Human Hepatocellular Carcinoma

Lipid Droplet Accumulation Mediates Macrophage Survival and Treg Recruitment in Human Hepatocellular Carcinoma via the CCL20/CCR6 Axis Background Macrophages are a major component of the tumor microenvironment (TME) and regulate the entire tumor process. In the TME, macrophages exhibit dynamic heterogeneity and plasticity, which affects their role ...

BAG6 restricts pancreatic cancer progression by suppressing the release of IL33-presenting extracellular vesicles and the activation of mast cells

Research Report on the Mechanism of BAG6 Restricting Pancreatic Cancer Progression Research Background Pancreatic Ductal Adenocarcinoma (PDAC) has an extremely poor prognosis, with a median survival of only 6 months, urgently requiring new treatment methods. In recent years, studies have found that extracellular vesicles (EVs) released by tumor cel...

Exportin 1 governs the immunosuppressive functions of myeloid-derived suppressor cells in tumors through Erk1/2 nuclear export

Paper Report Research Background Myeloid-Derived Suppressor Cells (MDSCs) are a major driving force in tumor immune suppression. Understanding their mechanisms can provide new therapeutic targets to improve anti-tumor immunity, as the development and immunosuppressive function of these cells directly affect anti-tumor immune responses. In preclinic...