Search Results - EGA European Genome-Phenome Archive

The mutational landscape of skin tumours in CYLD cutaneous syndrome determined

Patients with germline mutations in CYLD can develop hundreds of benign skin tumours called cylindromas. The development of multiple tumours within a single patient at sun-protected and sun-exposed sites, varying tumour histological patterns and grades of malignancy allow for the testing of several genetic hypothesis in relation to cutaneous carcinogenesis. By adopting the unprecedented approach of whole genome sequencing of multiple benign skin tumours within individuals in multigenerational families, we set out to study the impact of mutational diversity on models such as multistep carcinogenesis as well as non-sequential carcinogenesis. Using non-negative matrix factorisation (NMF) to discover mutational signatures, we found distinct mutational signatures in identical benign tumours (N=2 patients; n=11 tumours) at sun exposed and sun protected skin tumours within a mother and her daughter. We found recurrent mutations in epigenetic modifying genes in CCS tumours which are known to have an oncogenic dependency on Wnt signalling. We also demonstrate that cutaneous tumours that metastasize to the lung carry a a UV signature, supporting the origin from the skin. Distinct malignant tumours, such as BCC and malignant spiradenocarcinoma carried unique driver mutations. These findings add new dimensions to the existing paradigms of UV-induced skin cancer and highlight the utility of studying rare disease to gain novel insights into genetic mechanisms of tumour formation.

Dataset EGAD00001004573

Mannheim Liquid Biopsy Unit, Heidelberg University & DKFZ

The dataset consists of sequenced cell free DNA (cfDNA) samples from colorectal cancer patients. The samples were sequenced on an Illumina MiSeq machine using a custom amplicon sequencing approach. These amplicons were designed to cover the most common mutation hotspots in colorectal cancer. The data include 138 cfDNA samples from 34 different patients. For each patient several samples are available derived from blood drawn at different time points during treatment. In addition the data include samples from 22 histology slides and 30 samples derived from HT29/HCT116 cell lines that were used as controls.

Dataset EGAD00001004574

Metabolic reprogramming towards OXPHOS identifies a novel therapeutic target for mantle cell lymphoma

Metabolic reprogramming is linked to cancer cell growth and proliferation, metastasis, and therapeutic resistance in a multitude of cancers. Targeting dysregulated metabolic pathways to overcome resistance, an urgent clinical need in all relapsed/refractory cancers, remains difficult. Through genomics analysis of clinical specimens, we show that metabolic reprogramming towards oxidative phosphorylation (OXPHOS) and glutaminolysis is associated with therapeutic resistance to the Bruton’s tyrosine kinase inhibitor ibrutinib in mantle cell lymphoma (MCL), an incurable B-cell lymphoma with poor clinical outcomes. Inhibition of OXPHOS with a novel, clinically applicable small molecule, IACS-010759, which targets complex I of the mitochondrial electron transport chain, results in significant growth inhibition in vitro and in vivo in ibrutinib-resistant patient-derived cancer models. This work suggests that targeting metabolic pathways to subvert therapeutic resistance is a clinically viable approach to treat highly refractory malignancies.

Dataset EGAD00001004577

7827 results for "canc*"

in 21.74 milliseconds.

The mutational landscape of skin tumours in CYLD cutaneous syndrome determined

Mannheim Liquid Biopsy Unit, Heidelberg University & DKFZ

Metabolic reprogramming towards OXPHOS identifies a novel therapeutic target for mantle cell lymphoma

Genome and transcriptome sequence data from a metastatic renal carcinoma patient

Genome and transcriptome sequence data from a metastatic adenocarcinoma of the lung patient

Genome and transcriptome sequence data from a extramedullary spinal ependymoma patient

Genome and transcriptome sequence data from a metastatic endometrioid/mucinous ovarian carcinoma patient

Genome and transcriptome sequence data from a metastatic clear cell carcinoma of gynecological origin patient

Genome and transcriptome sequence data from a high grade serous ovarian cancer patient

Genome and transcriptome sequence data from a metastatic leiomyosarcoma patient

Genome and transcriptome sequence data from a metastatic adenocarcinoma of the pancreas patient

Genome and transcriptome sequence data from a metastatic alveolar soft part sarcoma patient

Genome and transcriptome sequence data from a pancreatic adenocarcinoma patient

Genome and transcriptome sequence data from a metastatic lung adenocarcinoma patient

Genome and transcriptome sequence data from a metastatic fibrosarcoma patient

Genome and transcriptome sequence data from a metastatic colorectal cancer patient

Genome and transcriptome sequence data from a metastatic uveal melanoma patient

Genome and transcriptome sequence data from a high grade sarcoma of the epithelioid/spindle cell patient

Genome and transcriptome sequence data from a cholangiocarcinoma patient

Genome and transcriptome sequence data from a lung cancer patient

Genome and transcriptome sequence data from a metastatic er positive breast cancer patient

Genome and transcriptome sequence data from a metastatic adenocarcinoma of the stomach patient

Genome and transcriptome sequence data from a metastatic melanoma patient

Genome and transcriptome sequence data from a breast invasive ductal carcinoma patient

Genome and transcriptome sequence data from a locally advanced oropharyngeal carcinoma patient

7827 results for "canc*"

in 21.74 milliseconds.

The mutational landscape of skin tumours in CYLD cutaneous syndrome determined

Mannheim Liquid Biopsy Unit, Heidelberg University &amp; DKFZ

Metabolic reprogramming towards OXPHOS identifies a novel therapeutic target for mantle cell lymphoma

Genome and transcriptome sequence data from a metastatic renal carcinoma patient

Genome and transcriptome sequence data from a metastatic adenocarcinoma of the lung patient

Genome and transcriptome sequence data from a extramedullary spinal ependymoma patient

Genome and transcriptome sequence data from a metastatic endometrioid/mucinous ovarian carcinoma patient

Genome and transcriptome sequence data from a metastatic clear cell carcinoma of gynecological origin patient

Genome and transcriptome sequence data from a high grade serous ovarian cancer patient

Genome and transcriptome sequence data from a metastatic leiomyosarcoma patient

Genome and transcriptome sequence data from a metastatic adenocarcinoma of the pancreas patient

Genome and transcriptome sequence data from a metastatic alveolar soft part sarcoma patient

Genome and transcriptome sequence data from a pancreatic adenocarcinoma patient

Genome and transcriptome sequence data from a metastatic lung adenocarcinoma patient

Genome and transcriptome sequence data from a metastatic fibrosarcoma patient

Genome and transcriptome sequence data from a metastatic colorectal cancer patient

Genome and transcriptome sequence data from a metastatic uveal melanoma patient

Genome and transcriptome sequence data from a high grade sarcoma of the epithelioid/spindle cell patient

Genome and transcriptome sequence data from a cholangiocarcinoma patient

Genome and transcriptome sequence data from a lung cancer patient

Genome and transcriptome sequence data from a metastatic er positive breast cancer patient

Genome and transcriptome sequence data from a metastatic adenocarcinoma of the stomach patient

Genome and transcriptome sequence data from a metastatic melanoma patient

Genome and transcriptome sequence data from a breast invasive ductal carcinoma patient

Genome and transcriptome sequence data from a locally advanced oropharyngeal carcinoma patient

Mannheim Liquid Biopsy Unit, Heidelberg University & DKFZ