In this multi-ancestry genome-wide association study (GWAS) and fine mapping study of head and neck squamous cell carcinoma (HNSCC) subsites, we analysed 19,073 cases and 38,857 controls and identified 29 independent novel loci. We provide robust evidence that a 3' UTR variant in (rs78378222, T>G) confers a 40% reduction in odds of developing overall HNSCC. We further examine the gene-environment relationship of and variants demonstrating their effects act through both smoking and alcohol use.
View Article and Find Full Text PDFIsolated nocturnal hypertension (INHT), defined as nighttime elevated blood pressure (BP) with normal daytime BP assessed by ambulatory BP monitoring, is associated with higher cardiovascular morbidity and mortality. We hypothesized that an alteration in the circulating renin-angiotensin system (RAS) contributes to INHT development. We examined circulating levels of angiotensin (Ang) (1-7) and Ang II and ACE2 activity in 26 patients that met the INHT criteria, out of 50 that were referred for BP evaluation (62% women, 45 ± 16 years old).
View Article and Find Full Text PDFBackground: Disparities in the timely diagnosis and care of cancer patients, particularly concerning geographical, racial/ethnic, and economic factors, remain a global health challenge. This study explores the multifaceted interplay between socioeconomic status, health literacy, and specific patient perceptions regarding care access and treatment options that impact cancer care in Uruguay.
Methods: Using the Cancer Health Literacy Test, Spanish Version (CHLT-30-DKspa), and a highly comprehensive questionnaire, we dissected the factors influencing the pathway to diagnosis and route of cancer care.
Chronic inflammation influences the tumor immune microenvironment (TIME) in high-grade serous ovarian cancer (HGSOC). Specifically, cyclooxygenase-2 (COX-2) overexpression promotes cytotoxic T-lymphocyte-associated protein-4 (CTLA-4) expression. Notably, elevated COX-2 levels in the TIME have been associated with reduced response to anti-CTLA-4 immunotherapy.
View Article and Find Full Text PDFgene fusions have been detected in more than 25 types of tumors and their prevalence is approximately 0.3% in solid tumors. This low prevalence makes identifying patients who could benefit from TRK inhibitors a considerable challenge.
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