The development and implementation of genetic testing has revolutionized the diagnostic landscape of autoinflammatory diseases, leading to an exponential increase in the identification of disease-associated genetic variants. Yet a substantial proportion of these are considered variants of uncertain significance (VUS), complicating both diagnosis and therapeutic decision-making. This challenge is relevant not only for monogenic systemic autoinflammatory diseases, but also in the context of genetically complex disorders that can involve multiple low-penetrance variants. Advances in protein structure prediction tools, machine learning and artificial intelligence provide powerful computational frameworks for the classification of variants; however, their predictive accuracy must be benchmarked against functional assays, particularly with respect to gain-of-function variants. Functional screening approaches benefit from both technological progress and expanding knowledge of the innate immun

Learn more.

Learn more.

Learn more.

Breast cancer remains a major global health challenge1. Here, to comprehensively characterize its genomic landscape and the clinical significance of genomic characteristics, we analysed whole-genome sequences from 1,364 clinically annotated breast cancers, with transcriptome data available for most cases. Our study expands the repertoire of oncogenic alterations and identifies novel driver genes, recurrent gene fusions, structural variants and copy number alterations. Timing analyses on copy number alterations suggest that genomic instability emerges decades before tumour diagnosis, and offer insights into early initiation of tumorigenesis. Pattern-driven genomic features, including mutational signatures2, homologous recombination deficiency3, tumour mutational burden and tumour heterogeneity scores4, were associated with clinical outcomes, highlighting their potential utility as predictive biomarkers for clinical evaluation of treatments such as CDK4/6 and HER2 inhibitors, as well as

Register now

Nature - Results of an early-phase breast cancer prevention trial demonstrate the potential for breast cancer prevention in premenopausal women with anti-progestin therapy by inducing...

Register now

Abstract. The mammary gland, which primarily develops postnatally, undergoes significant changes during pregnancy and lactation to facilitate milk producti

No description available

Start your career journey at NYU Langone Health, where cutting-edge research meets compassionate, patient-centered care.

BRCA1 and BRCA2 are well known breast cancer predisposition genes, however, many variants have not yet been classified for their pathogenicity. Here, the authors analyse a large combined cohort to pro...

CRISPR–Cas9-based saturation genome editing in a humanized mouse embryonic stem cell line was used for comprehensive functional characterization of single nucleotide variants in a region of BRCA2, and...

The RANK–RANKL pathway promotes intestinal epithelial expansion in pregnancy and lactation to meet increased nutritional demands.

To elucidate aging-associated cellular population dynamics, we present PanSci, a single-cell transcriptome atlas profiling over 20 million cells from 623 mouse tissues across different life stages, se...

Nature - A comprehensive multi-omics reference atlas of prenatal human skin shows that innate immune cells crosstalk with non-immune cells to perform pivotal roles in skin morphogenesis, including...