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...

Hereditary Cancer Screening and Outcomes at an Urban Safety-Net Hospital

Screening and Outcomes of Hereditary Cancer Syndromes: A Study at an Urban Safety Net Hospital Study Background Patients with Hereditary Cancer Syndromes (HCS) have a higher lifetime risk of developing cancer. Historically, underserved populations have lower rates of genetic evaluation. Hence, researchers aim to understand the demographic factors i...

Analysis of Breast Cancer Brain Metastases Reveals an Enrichment of Cyclin-Dependent Kinase 12 Structural Rearrangements in Human Epidermal Growth Factor Receptor 2–Positive Disease

Research Report on CDK12 Structural Rearrangements in Brain Metastases of Breast Cancer Background and Purpose Breast Cancer (BC) is the second most common solid tumor involving the Central Nervous System (CNS). Brain Metastases from Breast Cancer (BCBMs) are becoming increasingly common among patients with metastatic breast cancer. Patients with a...

Single-Nucleus Sequencing Reveals Enriched Expression of Genetic Risk Factors in ALS-Sensitive Neurons

Publication of a New Study on ALS Neurodegeneration in 《Nature Aging》 Throughout human history, numerous mysterious diseases have posed significant challenges for scientific research. Among these, Amyotrophic Lateral Sclerosis (ALS), a progressive neurodegenerative disease, is known for the gradual loss of muscle function and disability it causes. ...