Patient Assessment and Therapy Planning Based on Homologous Recombination Repair Deficiency

Medicine, Oncology, Life Sciences, Cell Biology, Genetics,
Homologous recombination repair deficiency   DNA damage response   Biomarker   PARP inhibitors   Gene mutations   Cancer therapy   Genomic scars  

Application of Homologous Recombination Deficiency (HRD) in Tumor Patient Assessment and Treatment Planning Background Homologous Recombination (HR) is an important mechanism for repairing DNA Double-Strand Breaks (DSBs). However, when key genes in the HR repair pathway are mutated or epigenetically inactivated, cells are unable to effectively repa...

Identification of the DNA Methylation Signature of Mowat-Wilson Syndrome

Medicine, Pediatrics, Medical Laboratory Science, Neurology, Life Sciences, Biochemistry, Genetics,
Mowat-Wilson Syndrome   ZEB2   DNA Methylation   Neurodevelopmental Disorder   Biomarker   Genetics   Transcription Factor  

DNA Methylation Characteristics for Recognizing Mowat-Wilson Syndrome Background Mowat-Wilson syndrome (MOWS) is a rare neurodevelopmental disorder caused by heterozygous deletions or loss-of-function mutations in the ZEB2 gene. This gene encodes a transcription factor involved in neural development. Individuals with MOWS often present with moderat...

Epigenetic Activation of SOX11 is Associated with Recurrence and Progression of Ductal Carcinoma In Situ to Invasive Breast Cancer

Medicine, Oncology, Life Sciences, Cell Biology, Biochemistry, Immunology,
SOX11   Ductal Carcinoma In Situ   Invasive Breast Cancer   Recurrence   Epigenetics   Biomarker   Progression  

Epigenetic Activation of Sox11 in Recurrence and Progression of Ductal Carcinoma In Situ Background Ductal Carcinoma In Situ (DCIS) is a non-invasive breast cancer characterized by the excessive proliferation of luminal epithelial cells surrounded by myoepithelial cells. DCIS accounts for approximately 25% of breast cancer screenings, and its poten...