Association of CHEK2 Low-Risk Variants with Cancer Phenotypes

Medicine, Oncology, Life Sciences, Genetics,
CHEK2   low-risk variants   cancer phenotypes   breast cancer   genetic modifiers  

Association of CHEK2 Low-Risk Variants with Cancer Phenotypes Academic Background The CHEK2 gene (OMIM 604373) is one of the susceptibility genes for breast cancer. Monoallelic pathogenic variants (PVs) in CHEK2 are associated with an increased risk of breast, colorectal, kidney, and thyroid cancers. However, there is limited research on the phenot...

Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases

Medicine, Ophthalmology, Life Sciences, Genetics,
Inherited Retinal Diseases   Racial Disparities   Genetic Detection Rates   Black Patients   White Patients   Genetic Testing   Clinical Diagnosis  

Racial Disparities in Genetic Detection Rates for Inherited Retinal Diseases Academic Background Inherited retinal diseases (IRDs) are a group of degenerative retinal disorders caused by genetic mutations, which can lead to vision loss or even blindness. With advances in gene discovery and next-generation DNA sequencing, an increasing number of pat...

Primary Open-Angle Glaucoma Polygenic Risk Score and Risk of Disease Onset: A Post Hoc Analysis of a Randomized Clinical Trial

Medicine, Ophthalmology, Life Sciences, Genetics,
Primary Open-Angle Glaucoma   Polygenic Risk Score   Disease Onset Risk   Randomized Clinical Trial   Post Hoc Analysis   Intraocular Pressure   Genetic Risk  

Primary Open-Angle Glaucoma Polygenic Risk Score and Risk of Disease Onset: A Post Hoc Analysis Academic Background Primary open-angle glaucoma (POAG) is the most common form of glaucoma, often associated with elevated intraocular pressure (IOP). It is an irreversible optic neuropathy that, if untreated, can lead to vision loss. While IOP-lowering ...

Recurrent CLTC::SYK Fusions and CSF1R Mutations in Juvenile Xanthogranuloma of Soft Tissue

Medicine, Pediatrics, Hematology, Oncology, Life Sciences, Immunology, Genetics,
Juvenile Xanthogranuloma   Soft Tissue Tumors   CLTC::SYK Fusion   CSF1R Mutation   Targeted Therapy   Molecular Pathology   Histologic Features  

Research on Juvenile Xanthogranuloma Reveals Novel Genetic Mutations Juvenile xanthogranuloma (JXG), a rare histiocytic neoplasm, typically manifests in the skin but occasionally presents extracutaneously in locations such as soft tissue or the central nervous system (CNS). The genetic drivers underlying these extracutaneous variants remain poorly ...

Clonal Landscape and Clinical Outcomes of Telomere Biology Disorders: Somatic Rescue and Cancer Mutations

Medicine, Hematology, Oncology, Life Sciences, Genetics,
Telomere Biology Disorders   Clonal Hematopoiesis   Cancer Mutations   Somatic Rescue   Prognostic Markers  

Report on the Academic Paper: Clonal Landscape and Clinical Outcomes of Telomere Biology Disorders: Somatic Rescue and Cancer Mutations Academic Background and Research Motivation Telomere biology disorders (TBDs) are a group of diseases caused by pathogenic germline variants (PGVs) in telomere-related genes, manifesting with multi-organ dysfunctio...

Focal Deletions of a Promoter Tether Activate the IRX3 Oncogene in T-Cell Acute Lymphoblastic Leukemia

Medicine, Hematology, Oncology, Life Sciences, Cell Biology, Biochemistry, Immunology, Genetics,
T-cell acute lymphoblastic leukemia   FTO gene   IRX3 oncogene   enhancer hijacking   CTCF binding site   noncoding genome   tumor suppressor mechanism  

Stage-specific Chromosomal Deletions Activate the IRX3 Oncogene in T-cell Acute Lymphoblastic Leukemia In the field of cancer research, understanding regulatory mechanisms of the noncoding genome remains a key focus, especially concerning how oncogenes can be aberrantly activated through non-canonical regulatory pathways. This paper, authored by Su...