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...

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...

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...

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 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 ...