Case report and review of duodenal malignant glomus tumor with novel molecular variants
Rare duodenal tumor case highlights need for molecular testing
This review and case report describes a 47-year-old woman with duodenal malignant glomus tumor. It identifies two novel class III variants o…
A single case of a rare duodenal tumor shows how molecular profiling can guide diagnosis and management of these uncommon cancers.
Meta-analysis finds germline LTS and somatic TERT variants are mutually exclusive in thyroid cancer and melanoma
Two different cancer drivers do not appear together in these tumors
This meta-analysis of retrospective observational cohorts examined germline long-telomere syndrome variants and somatic TERT promoter altera…
A large review of nearly 2,000 adults with thyroid cancer or melanoma found that two specific genetic changes never occur in the same tumor.
Meta-analysis identifies rare gene-trait associations across 1.2 million individuals in global biobanks
Scientists found many rare gene links to health traits using global data from millions of people
This meta-analysis of gene-based data from over 1.2 million individuals across diverse ancestries examines rare coding variation. The author…
A big study looked at rare gene changes in over 1.2 million people from many backgrounds. It found many links to diseases that single groups…
Meta-analysis finds sex-specific genetic variant linked to platelet aggregation
Genetic variant affects blood clotting differently in women and men
This meta-analysis of three cohorts identified a genome-wide significant sex interaction for variant rs116725046 in LINC00702 region, associ…
A genetic variant has opposite effects on blood clotting in women and men, which could change how we assess thrombotic risk.
Meta-analysis identifies genetic loci and biomarkers for restless legs syndrome in over 1.3 million individuals
Genetic study links over 100 conditions to restless legs syndrome
This meta-analysis synthesizes genome-wide and phenome-wide association analyses from UK Biobank and All of Us cohorts involving more than 1…
A massive genetic analysis connects restless legs syndrome to more than 100 other diseases, lifestyle factors, and biomarkers in over 1.3 mi…
Meta-analysis links CD40 rs1883832 polymorphism to breast cancer susceptibility
Gene variant linked to breast cancer risk in meta-analysis
This meta-analysis of 10 studies (20 case-control studies) examined the association between CD40 gene polymorphisms and cancer susceptibilit…
A specific gene variant may raise breast cancer risk, but three others showed no link in a large analysis.
Inclisiran plus usual care improves LDL-C goal attainment after acute coronary syndrome
Inclisiran helps heart patients hit cholesterol goals fast
This phase 3b open-label RCT in 400 patients discharged after acute coronary syndrome found that adding inclisiran to usual care led to sign…
A new shot helped 3 in 4 recent heart attack patients reach LDL targets within 90 days, far more than usual care alone.
PRKRA gene variants linked to tinnitus and mild cognitive impairment
Gene Variants Linked to Tinnitus and Memory Problems
This RCT of 294 adults with chronic tinnitus from five European clinics found that 15% of those with mild cognitive impairment had rare loss…
Rare gene variants may connect chronic tinnitus with mild cognitive impairment, a new study suggests.
Systematic review on genetic factors in treatment-resistant schizophrenia
Genetic factors linked to treatment-resistant schizophrenia in European ancestry
This systematic review synthesizes genetic findings in treatment-resistant schizophrenia. It finds that common variants explain little liabi…
A review of 102 studies finds genetic markers are connected to treatment-resistant schizophrenia, but common variants explain little risk.
Meta-analysis of GWAS data identifies genetic risk factors for inflammatory bowel disease in 125,992 individuals
Genetic map reveals new targets for inflammatory bowel disease
This meta-analysis review synthesizes genome-wide association study data from 125,992 individuals with IBD and more than 1.2 million control…
A massive genetic study found 619 new signals linked to Crohn's and ulcerative colitis, offering fresh clues for future treatments.
Polygenic Risk Score Ties to Prostate Cancer Aggressiveness
New Genetic Score Predicts Aggressive Prostate Cancer in Men
A polygenic risk score (PRSagg) was associated with higher-grade prostate cancer and unfavorable outcomes during active monitoring, suggesti…
A new genetic test could help men with prostate cancer know if their tumor is likely to become aggressive, guiding them toward more urgent t…
Meta-analysis identifies 173 novel genetic loci and shared causal variants across hernia subtypes
Genetic Keys Unlock Why Hernias Strike Different Body Zones
This meta-analysis of genome-wide association and multi-trait analyses identified 243 loci associated with hernia, including 173 novel assoc…
• Scientists found 243 genetic spots linked to hernias • Helps people with family hernia history predict risk • Years from practical use but…