Search Results - EGA European Genome-Phenome Archive

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

Small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) is an extremely rare, aggressive cancer affecting children and young women. We identified germline and somatic inactivating mutations in the SWI/SNF chromatin-remodeling gene SMARCA4 in 75% (9/12) of SCCOHT patients in addition to SMARCA4 protein loss in 82% (14/17) of SCCOHT tumors, but in only 0.4% (2/485) of other primary ovarian tumors. These data implicate SMARCA4 in SCCOHT oncogenesis.

Dataset EGAD00001000794

Melanoma-Til Study RNAseq

In this study, mutations present in a series of human melanomas (stage IV disease) will be determined, using autologous blood cells to obtain a reference genome. From each of the samples that are analyzed, tumour-infiltrating T lymphocytes have also been isolated. This offers a unique opportunity to determine which (fraction of) mutations in human cancer leads to epitopes that are recognized by T cells. The resulting information is likely to be of value to understand how T cell activating drugs exert their action.

Dataset EGAD00001000325

Feasibility of targeted capture sequencing in routinely collected FFPE cancer specimens

Testing the feasibility of genome-scale sequencing in routinely collected formalin-fixed paraffin-embedded (FFPE) cancer specimens versus matched fresh-frozen samples using targeted pulldown capture prior to Illumina sequencing.

Dataset EGAD00001000354

Dataset Plasma-seq

We performed low coverage whole genome sequencing of plasma DNA from prostate cancer patients to establish copy number profiles on both a genome-wide and a gene-specific level. The data include plasma samples from prostate cacner patients (n=13), non-malignant controls (males, n=10 and females, n=9), plasma samples from pregnancies with aneuploid and euploid fetuses (n=4). Furthermore, we sequenced different tumor samples (n=6) of one patients and a serial dilution of HT29 in a background of normal DNA (n=9).

Dataset EGAD00001000364

7827 results for "canc*"

in 31.17 milliseconds.

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4

Melanoma-Til Study RNAseq

Feasibility of targeted capture sequencing in routinely collected FFPE cancer specimens

Dataset Plasma-seq

Genome and transcriptome sequence data from a metastatic high-grade adenocarcinoma of the fallopian tubes patient

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

Genome and transcriptome sequence data from a metastatic breast cancer patient

Genome and transcriptome sequence data from a adenocarcinoma of the liver patient

Genome and transcriptome sequence data from a metastatic pancreatic adenocarcinoma patient

Genome and transcriptome sequence data from a metastatic breast cancer patient

Genome and transcriptome sequence data from a metastatic breast cancer patient

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

Genome and transcriptome sequence data from a metastatic breast cancer patient

Genome and transcriptome sequence data from a metastatic non-small cell lung cancer patient

Genome and transcriptome sequence data from a lung adenocarcinoma patient

Genome and transcriptome sequence data from a metastatic breast cancer patient

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

Genome and transcriptome sequence data from a peripheral T-cell lymphoma patient

Genome and transcriptome sequence data from a cholangiocarcinoma patient

Genome and transcriptome sequence data from a metastatic colorectal cancer patient

Genome and transcriptome sequence data from a metastatic carcinoma to paraspinal mass with primary unknown patient

Genome and transcriptome sequence data from a metastatic non-small cell lung carcinoma patient

Genome and transcriptome sequence data from a metastatic transverse colon cancer patient

Genome and transcriptome sequence data from a angiosarcoma patient

Genome and transcriptome sequence data from a metastatic breast cancer patient