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Abstract Objective Epidemiological studies have shown evidence of the effect of genetic variations in the pathogenesis of breast cancer and have suggested a relationship of the disease with genetic polymorphisms. Matri...

Through the study of human genetic diversity, it can be predicted that complex traits, such as height and obesity, will be demonstrated. With the development of a new design technique using Surface Plasmon Resonance (SPR...

Abstract Objective Breast cancer remains a major cause of morbidity and mortality among Ugandan women, who often present at younger age with advanced disease. Doxorubicin is central to treatment regimens, but current dos...

Abstract Background and objectives Squamous cell carcinoma antigen recognized by T-cells 3 (SART3) has emerged as a promising target for cancer immunotherapy, given its overexpression in various malignancies and low or a...

Abstract Immune system dysregulation is implicated in a wide range of human diseases, including cancer. Genetic studies have shown evidence of a link between immune diseases and cancer; therefore, deficits of immune syst...

Abstract Background Hereditary breast and ovarian cancer (HBOC) confers a markedly increased lifetime risk of breast and ovarian cancers. As no effective surveillance method for early detection of ovarian cancer has been...

Abstract Background Estrogen receptor alpha (ERα)-positive luminal breast cancer is commonly treated with aromatase inhibitors (AI) to block estrogen signaling; however, resistance frequently develops, limiting therapy ...

Abstract Background Accurate risk stratification of colorectal cancer (CRC) is essential for precise screening. Polygenic risk scores (PRS) hold promise for improving predictive efficacy in CRC. However, the real-world a...

Abstract Mortality rates from breast cancer in young women have fallen considerably in high-income countries but continue to rise in low-income countries such as Morocco. Young women with breast cancer face unique challe...

Abstract Prostate cancer (PCa) is a heterogeneous and prevalent neoplasm, traditionally stratified by PSA and Gleason Score. However, these biomarkers have prognostic limitations, driving the search for new molecular mar...

Abstract Background Aberrant three-dimensional genome organization is a hallmark of cancer. However, the underlying regulatory mechanisms remain elusive. Results Here, we identify β-catenin associated loop hubs in color...

Abstract Background The prevalence and spectrum of PALB2 pathogenic/likely pathogenic variants (PV/LPVs) may vary across different regions, and these have not yet been analysed and reported in Slovenian HBOC families. Me...

Abstract Background Head and neck squamous cell carcinoma (HNSCC) is a prevalent and aggressive malignancy with limited prognostic markers. Ubiquitin-specific peptidase 33 (USP33) has emerged as a potential modulator of ...

Abstract Objectives Determine the proportion of patients with Lynch syndrome who received guideline-concordant care according to NCCN guidelines during the study period (2015–2018). Methods A retrospective cohort study...

Abstract Myasthenia gravis (MG) is an autoimmune disorder characterized by impaired neuromuscular transmission and motor symptoms. Its genetic background remains unclear, particularly beyond specific subtypes reported in...

Abstract Background Super-enhancers are critical cis-regulatory elements that play a central role in modulating gene expression and driving cellular identity. Their dysregulation is closely associated with the developmen...

Abstract Background Proteins represent the dynamic downstream products of genes, and have the potential to substantially increase understanding of the complexities of cancer biology. Undifferentiated pleomorphic sarcoma ...

Abstract Cell–cell communication regulates complex biological processes in multicellular systems. Existing scRNA-seq-based methods typically aggregate gene expression by clusters, overlooking within-cluster heterogenei...

Abstract Myostatin negatively regulates skeletal muscle size in multiple species, and therefore, myostatin blockade has been therapeutically explored to promote muscle growth in humans, including to counter the muscle lo...