Cancer driver genes are commonly mutationally disrupted in cancer, which confers a growth advantage to tumor cells. Recent studies preferentially search for recurrently mutated driver genes across multiple tumor samples, leading to the neglect of low-frequency mutated cancer genes. The present study was conducted to identify cancer‑driving genes in thyroid cancer with two distinct tools, Oncodr...

Leukodystrophies (LD) are rare inherited disorders that primarily affect the white matter (WM) of the central nervous system. The large heterogeneity of LD results from the diversity of the genetically determined defects that interfere with glial cells functions. Astrocytes have been identified as the primary target of LD with cystic myelin breakdown including those related to mutations in the ...

Abstract The aim of this study is to investigate certain genetic features intrahepatic cholangiocarcinoma (ICCA). A total 12 eligible ICCA patients were enrolled, and tumor tissues from the subjected next-generation sequencing a multi-genes panel. Tumor mutation burden (TMB), mutated genes, copy number variants (CNVs), pathway enrichment analysis performed. median TMB was 2.76 Mutation/Mb (rang...

To clarify whether mantle cell lymphomas (MCLs) are related to naive pre-germinal center B cells (expressing nonmutated rearranged VH genes) or to germinal center-derived memory B cells (expressing mutated rearranged V” genes), clonal IgH gene rearrangements using DNA from six MCLs were polymerase chain reaction (PCR)-amplified and analyzed for the presence of somatic mutations. For comparison,...

This review provides an overview of the genetic aspects cystinuria, as well novel pharmacotherapeutics that could potentially be used to treat disease. Cystinuria is inherited disorder characterized by formation painful stones in kidneys, bladder, and other parts renal system. Currently, mutations responsible for cystinuria have been identified two genes (SLC3A1 SLC7A9 ), patients are categoriz...