16 Result(s)
-
Article
Open AccessRecurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer
Pancreatic neuroendocrine tumors (pNETs) are uncommon cancers arising from pancreatic islet cells. Here we report the analysis of gene mutation, copy number, and RNA expression of 57 sporadic well-differentiat...
-
Article
Open AccessResistance to paclitaxel is associated with a variant of the gene BCL2 in multiple tumor types
Paclitaxel, the most commonly used form of chemotherapy, is utilized in curative protocols in different types of cancer. The response to treatment differs among patients. Biological interpretation of a mechani...
-
Article
Open AccessBlood-based monitoring identifies acquired and targetable driver HER2 mutations in endocrine-resistant metastatic breast cancer
Plasma genoty** identifies potentially actionable mutations at variable mutant allele frequencies, often admixed with multiple subclonal variants, highlighting the need for their clinical and functional vali...
-
Article
Open AccessMultiomics characteristics of neurogenesis-related gene are dysregulated in tumor immune microenvironment
The success of immunotherapy was overshadowed by its low response rate, and the hot or cold tumor microenvironment was reported to be responsible for it. However, due to the lack of an appropriate method, it i...
-
Article
Open AccessBroadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inher...
-
Article
Open AccessWhole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain geneticall...
-
Article
Open AccessNucleosome footprinting in plasma cell-free DNA for the pre-surgical diagnosis of ovarian cancer
Fragmentation patterns of plasma cell-free DNA (cfDNA) are known to reflect nucleosome positions of cell types contributing to cfDNA. Based on cfDNA fragmentation patterns, the deviation in nucleosome footprin...
-
Article
Open AccessDNA-based copy number analysis confirms genomic evolution of PDX models
Genomic evolution of patient-derived xenografts (PDXs) may lead to their gradual divergence away of their tumors of origin. We previously reported the genomic evolution of the copy number (CN) landscapes of PD...
-
Article
Open AccessPublisher Correction: DNA-based copy number analysis confirms genomic evolution of PDX models
-
Article
Open AccessInduction immune-checkpoint inhibitors for resectable oncogene-mutant NSCLC: A multicenter pooled analysis
Despite limited efficacy of immunotherapy for advanced non-small-cell lung cancer (NSCLC) with driver mutations, whether neoadjuvant immunotherapy could be clinically valuable in those patients warrants furthe...
-
Article
Open AccessDownregulation of KEAP1 in melanoma promotes resistance to immune checkpoint blockade
Immune checkpoint blockade (ICB) has demonstrated efficacy in patients with melanoma, but many exhibit poor responses. Using single cell RNA sequencing of melanoma patient-derived circulating tumor cells (CTCs...
-
Article
Open AccessOptimizing cancer immunotherapy response prediction by tumor aneuploidy score and fraction of copy number alterations
Identifying patients that are likely to respond to cancer immunotherapy is an important, yet highly challenging clinical need. Using 3139 patients across 17 different cancer types, we comprehensively studied t...
-
Article
Open AccessALK fusions in the pan-cancer setting: another tumor-agnostic target?
Anaplastic lymphoma kinase (ALK) alterations (activating mutations, amplifications, and fusions/rearrangements) occur in ~3.3% of cancers. ALK fusions/rearrangements are discerned in >50% of inflammatory myofibro...
-
Article
Open AccessDNA and RNA base editors can correct the majority of pathogenic single nucleotide variants
The majority of human genetic diseases are caused by single nucleotide variants (SNVs) in the genome sequence. Excitingly, new genomic techniques known as base editing have opened efficient pathways to correct...
-
Article
Open AccessGenetic landscape of interval and screen detected breast cancer
Interval breast cancers (IBCs) are cancers diagnosed between screening episodes. Understanding the biological differences between IBCs and screen-detected breast-cancers (SDBCs) has the potential to improve ma...
-
Article
Open AccessA comprehensive analysis of minimally differentially methylated regions common to pediatric and adult solid tumors
Cancer is the second most common cause of death in children aged 1–14 years in the United States, with 11,000 new cases and 1200 deaths annually. Pediatric cancers typically have lower mutational burden compar...
