Interrogating the immune landscape of microsatellite stable RAS‐mutated colon cancer
COLOSSUS project RAS‐mutated MSS colon cancer study explored transcriptomics and immune cell density by immunohistochemistry (IHC), Immunoscore (IS), ISIC/TuLIS scores, mutation counts, and detected different prevalences but similar microenvironment composition across immune markers with clinical relevance for future immunotherapy combination ...
Rodrigo Dienstmann +61 more
wiley +1 more source
Coexistence of Proteinase 3 (PR3)-Positive Granulomatosis With Polyangiitis and Genetically Confirmed Alport Syndrome in a 31-Year-Old Female Patient: A Diagnostic and Management Challenge. [PDF]
Valdes L +4 more
europepmc +1 more source
Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla +9 more
wiley +1 more source
Willingness of Chinese Breast Cancer Patients for Their Children to Undergo <i>BRCA1/2</i> Genetic Testing and Associated Factors. [PDF]
Yu X, Wu M, Liu L, Zhang C.
europepmc +1 more source
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch +13 more
wiley +1 more source
Images in Medicine: Recognizing Hereditary Hemorrhagic Telangiectasia Through Mucocutaneous Findings and Its Management Challenges. [PDF]
Khodzandi S +4 more
europepmc +1 more source
Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source
A Rare Case of Multi-System Involvement and Hereditary Pulmonary Hypertension Caused by De Novo Heterozygous <i>CAV1</i> Mutation in a Pediatric Patient. [PDF]
Sun Y, Zhang Q, Huang Y, Liu X.
europepmc +1 more source
Targeted therapy was evaluated in SHH medulloblastoma using neuroepithelial stem cell (NES) and tumor‐derived NES‐like (tNES) models in 2D monolayers and 3D spheroids. PI3K, AKT, and CDK4/6 inhibitors had minimal effects in NES but markedly reduced viability and growth and induced apoptosis in tNES cells, revealing distinct therapeutic vulnerabilities.
Monika Lukoseviciute +4 more
wiley +1 more source
Primary care stakeholder perspectives on clinical implementation of patient-reported hereditary cancer risk-assessment. [PDF]
Gurram A +6 more
europepmc +1 more source

