Project description:Prostate cancer (PCa) is one of the most common malignancies in men, with familial forms accounting for nearly 20% of cases. Early detection and risk stratification remain challenging, especially in individuals with a genetic predisposition. In this pilot study, we evaluated the feasibility and clinical relevance of an integrated multi-omic approach by performing whole-genome, strand-specific sequencing of circulating cell-free DNA (cfDNA) from eight patients with confirmed familial PCa. Through an integrated analysis pipeline, we identified 18,878 genetic variants, of which 2,276 were potentially pathogenic. Among these, 26 recurrent high-impact mutations—such as stop-gain and start-loss variants—were found in genes including MUC4, MCM9, and SKA3. Epigenomic profiling revealed widespread hypermethylation in these genes, suggesting transcriptional repression, while allele-specific methylation (ASM) was detected in TTC22, TEX51, WDR89, LAIR2, and SKA3, indicating functional interplay between somatic mutations and local epigenetic regulation. These findings demonstrate the potential of combining genetic and epigenetic data from cfDNA to uncover novel markers for improved stratification and personalized management of familial prostate cancer.
Project description:The Tasmanian devil, a marsupial carnivore, is endangered due to the emergence of a clonally transmissible cancer known as Devil Facial Tumor Disease (DFTD). This fatal cancer is clonally derived and is an allograft transmitted between devils by biting. We performed a large-scale genetic analysis of DFTD with microsatellite genotyping, mitochondrial genome analysis, as well as deep sequencing of the DFTD transcriptome and miRNAs. These studies confirm that DFTD is a monophyletic clonally transmissible tumor, and suggest that the disease is of Schwann cell origin. On the basis of these results we have generated a diagnostic marker for DFTD, and identify a suite of genes of relevance to DFTD pathology and transmission. We provide a genomic dataset for the Tasmanian devil, which is applicable to cancer diagnosis, disease evolution and conservation biology. This submission contains only small RNA sequence data from this study. Small RNA (18 - 24 nt) sequences from 15 Tasmanian devil (Sarcophilus harrisii) tissue samples
Project description:The Tasmanian devil, a marsupial carnivore, is endangered due to the emergence of a clonally transmissible cancer known as Devil Facial Tumor Disease (DFTD). This fatal cancer is clonally derived and is an allograft transmitted between devils by biting. We performed a large-scale genetic analysis of DFTD with microsatellite genotyping, mitochondrial genome analysis, as well as deep sequencing of the DFTD transcriptome and miRNAs. These studies confirm that DFTD is a monophyletic clonally transmissible tumor, and suggest that the disease is of Schwann cell origin. On the basis of these results we have generated a diagnostic marker for DFTD, and identify a suite of genes of relevance to DFTD pathology and transmission. We provide a genomic dataset for the Tasmanian devil, which is applicable to cancer diagnosis, disease evolution and conservation biology. This submission contains only small RNA sequence data from this study.
Project description:The Tasmanian devil is the only mammalian species harbouring two lineages of contagious cancer within its population. This dataset represents the proteomics analysis of DFT1, DFT2 and SALEM lines.
Project description:Samples of benign prostate tissue, localized prostate cancer tissue, and metastatic prostate cancer tissue are profiled to study expression changes in diagnosis and progression of prostate cancer. Each tissue sample is also profiled for metabolomics data Keywords: Cancer Progression 41 samples were analyzed (16 benign prostate tissue, 12 local prostate cancer tissue, 13 metastatic prostate cancer tissue)