Genome-Wide Loss of Heterozygosity Predicts Aggressive, Treatment-Refractory Behavior in Pituitary Neuroendocrine Tumors

Prediction of Invasiveness and Treatment Resistance Behavior of Pituitary Neuroendocrine Tumors Based on Genome-Wide Loss of Heterozygosity Background: Pituitary neuroendocrine tumors (PitNETs) are mostly benign, but a small portion exhibit invasive and treatment-resistant behaviors, continuing to grow or metastasize even after surgery, conventiona...

Alteration of Gene Expression and Protein Solubility of the PI5-Phosphatase SHIP2 are Correlated with Alzheimer’s Disease Pathology Progression

Changes in Gene Expression and Protein Insolubility in Alzheimer’s Disease Progression Background Introduction As the most common type of dementia, Alzheimer’s Disease (AD) is well-known for its two main neuropathological features: amyloid plaques and neurofibrillary tangles (NFTs). Amyloid plaques consist of β-amyloid (Aβ) peptide segments generat...

Abundant Transcriptomic Alterations in the Human Cerebellum of Patients with a C9orf72 Repeat Expansion

Research Background In the field of neuroscience, amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two highly heterogeneous neurodegenerative diseases. Studies indicate that non-coding hexanucleotide repeat expansions in the c9orf72 gene are the most common genetic causes of these diseases. However, the specific ...

Characterization of NEB Pathogenic Variants in Patients Reveals Novel Nemaline Myopathy Disease Mechanisms and Omecamtiv Mecarbil Force Effects

Scientific Report: Analysis of NEB Pathogenic Variants Reveals Novel Mechanisms of Nemaline Myopathy and the Mechanical Effects of Omecamtiv Mecarbil Background and Motivation Nemaline Myopathy (NEM) is a rare and heterogeneous genetic disorder primarily characterized by hypotonia and muscle weakness. Pathologically, the disease is caused by the di...

Real-World Overall Survival and Treatment Patterns by PTEN Status in Metastatic Castration-Resistant Prostate Cancer

Overall Survival and Treatment Patterns in Metastatic Castration-Resistant Prostate Cancer Patients Based on PTEN Status Academic Background Prostate cancer is one of the most common malignant tumors among men worldwide and a leading cause of cancer-related deaths. Approximately 10%-20% of prostate cancer patients will develop castration-resistant ...

Prognostic Model for High-Grade Neuroendocrine Carcinoma of the Lung Incorporating Genomic Profiling and Poly (ADP-Ribose) Polymerase-1 Expression

Prognostic Model for High-Grade Neuroendocrine Carcinoma of the Lung Incorporating Genomic Profiling and Poly (ADP-Ribose) Polymerase-1 Expression

Prognostic Model of Pulmonary High-grade Neuroendocrine Carcinoma: Integrating Genomic Analysis and Poly(ADP-ribose) Polymerase-1 Expression Research Background High-grade neuroendocrine carcinoma (HGNEC) of the lung is a highly aggressive cancer with significant biological complexity. Despite its association with Notch pathway activation and inact...

High Concordance of Different Assays in the Determination of Homologous Recombination Deficiency–Associated Genomic Instability in Ovarian Cancer

High Concordance of Different Assays in the Determination of Homologous Recombination Deficiency–Associated Genomic Instability in Ovarian Cancer

Ovarian cancer is one of the most common and deadly tumor types in women. In recent years, Poly (ADP-ribose) polymerase inhibitors (PARPi) have shown encouraging clinical results in the treatment of ovarian cancer. Numerous studies have found that patients with homologous recombination deficiency (HRD) benefit more from PARPi treatment. Therefore, ...

Prospective Study of Homologous Recombination Repair Gene Mutation Prevalence in Patients with Advanced Prostate Cancer from Latin America: Challenges and Future Approaches

Academic Report for the Paper Titled “Prospective Study of Homologous Recombination Repair Gene Mutation Prevalence in Patients with Advanced Prostate Cancer from Latin America: Challenges and Future Approaches” Background Prostate cancer is one of the most common cancers among men in Latin America and the Caribbean (LAC). According to the 2020 Glo...

Comprehensive Genomic Analysis of Patients with Non–Small-Cell Lung Cancer Using Blood-Based Circulating Tumor DNA Assay: Findings from the BFAST Database of a Single Center in Taiwan

Latest Research in Lung Cancer Genomics: Analysis of Circulating Tumor DNA Detection in Non-Small Cell Lung Cancer Background and Motivation In recent years, the treatment of non-small cell lung cancer (NSCLC) has seen significant changes due to the success of targeted therapies. The National Comprehensive Cancer Network guidelines recommend extens...

Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors

Cross-Cancer Study Reveals Biallelic Inactivation of MUTYH and Base Excision Repair Defects in Different Types of Solid Tumors Research Background In daily life, cells are often exposed to endogenous and exogenous oxidative stress, originating from by-products of cellular respiration and various external compounds. MUTYH is a key component of the b...