Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Sequencing Analysis of Cutaneous Squamous Cell Carcinoma

ABSTRACT:

The Exome Sequencing Analysis of Cutaneous Squamous Cell Carcinoma (SCC) study is a single-center cohort study. To identify recurrent genomic aberrations that might underlie the development of this malignancy, we performed whole exome sequencing on a series of SCC-normal pairs to distill a list of 336 candidate genes that were subsequently re-sequenced in 100 SCC-normal pairs with an average depth >1200X. This study also included whole-genome copy number analysis on 5 primary SCC with KNSTRN p.Ser24Phe and 5 histologically matched SCC with wild-type KNSTRN.

PROVIDER: phs000785 | dbGaP |

SECONDARY ACCESSION(S): PRJNA259586PRJNA259587

REPOSITORIES: dbGaP

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	GapExchange_phs000785.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000785.CutaneousSquamousCellCarcinoma.v1.p1.MULTI.pdf	Pdf
	manifest_phs000785.CutaneousSquamousCellCarcinoma.v1.p1.c2.DS-SKCA.pdf	Pdf
	datadict_v2.xsl	Other

Items per page:

1 - 5 of 13

Similar Datasets

Differentially expressed miRNAs in human cutaneous squamous cell carcinoma

Project description:To determine the differentially expressed miRNAs in human cutaneous squamous cell carcinoma biopsies versus normal skin samples using microarray analysis.

2015-05-11 | E-MTAB-3409 | biostudies-arrayexpress

TAp63-regulated microRNAs suppress cutaneous squamous cell carcinoma

Project description:TAp63 is a transcription factor belonging to the p53 family with important tumor suppressive functions. We show that TAp63-/- mice exhibit an increased susceptibility to UVR-induced cutaneous squamous cell carcinoma (cuSCC). These tumors showed global disruption of miRNA and mRNA expression when compared to tumors arising in wild-type mice. A comparison to similarly sequenced human cuSCC tumors identified miR-30c-2* and miR-497 as being significantly underexpressed in cuSCC. Reintroduction of these miRNAs significantly inhibited the growth of cuSCC cell lines and xenografts. Proteomic profiling of cells transfected with either miRNA showed significant downregulation of proteins related to cell cycle progression and mitosis. A cross-platform comparison of the RNAseq and proteomics signatures identified 7 downregulated proteins, which are also frequently overexpressed in both mouse and human cuSCC. Knockdown of AURKA, KIF18B, PKMYT1, and ORC1 in cuSCC cell lines suppressed tumor cell proliferation and induced cell death. Additionally, we found that an investigational, oral, selective inhibitor of AURKA suppressed cuSCC cell growth and induced cell death, and showed anti-tumor effects in vivo. Our data establishes TAp63 as an essential regulator of miRNA expression during skin carcinogenesis and reveals a novel network of miRNAs and mRNAs, which include potential targets for therapeutic intervention.

2020-07-07 | PXD014261 | Pride

COL11A1 mutations in cutaneous squamous cell carcinoma [WES]

Project description:Whole exome sequencing was used to identify frequent COL11A1 mutations in cutaneous squamous cell carcinoma (cSCC).

2021-07-23 | GSE179296 | GEO

MicroRNA Expression in Cutaneous Squamous Cell Carcinoma

Project description:Cutaneous squamous cell carcinoma (cSCC) is the second most commonly diagnosed cancer in the United States each year. Despite a generally good prognosis, metastatic cSCC results in over 3500 deaths annually. There are no specifically targeted therapies or biomarkers for metastatic cSCC. To determine whether aberrant microRNA expression occurs in metastatic cSCC which could provide novel targets for therapy or biomarkers for earlier diagnosis or prognosis, microRNA expression profiling was performed in 48 samples including normal skin, primary tumors and metastases. Multiple microRNAs showed differential expression; miR-4286, miR-200a-3p and miR-148-3p showed increased expression and miR-1915-3p, miR-205-5p, miR-4516 and miR-150-5p showed reduced expression in metastatic samples. Several microRNAs previously showing aberrant expressionshown to be aberrantly expressed in primary cSCCs were also observed in this study including miR-100, miR-135b, miR-145, miR-21, and miR-214. In summary, several microRNAs show differential expression between primary and metastatic cSCCs; these may be useful as biomarkers for metastasis or as targets for therapytherapeutic targets. RNA extracted from primary human tissues

2015-02-28 | E-GEOD-57768 | biostudies-arrayexpress

Investigation of potential tumour suppressor or tumour promoter roles in cutaneous squamous cell carcinoma progression

Project description:Analysis of the combined dataset of normal skin, actinic keratosis and cutaneous squamous cell carcinoma (cSCC) previously submitted in (GSE45216) at genomic/transciptomic level. We identified potential cSCC driver genes significantly mutated and upregulated in cSCC relative to normal skin.

2018-06-14 | GSE98774 | GEO

Epigenome analysis of cutaneous squamous cell carcinoma samples

Project description:Genome wide DNA methylation profiling in cutaneous squamous cell carcinoma. The Infinium MethylationEPIC BeadChips 850K has been used to interrogate DNA methylation changes. The cohort included 23 patients in total, with precursors of squamous cell carcinoma (actinic keratosis group) and with cSCC at different stages.

2019-12-12 | E-MTAB-8542 | biostudies-arrayexpress

Lack of human papilloma virus transcriptional activity in cutaneous squamous cell carcinoma stratified by histological grade and host immune status

Project description:Human Papilloma Virus (HPV) infection is known to contribute to mucosal (m)SCC, but its role in cutaneous (c)SCC progression remains unclear, especially in lesions determined to be at high-risk for metastasis. We hypothesized that histologically high grade cSCCs in immunosuppressed patients would display increased transcriptional activity of HPV when compared to low histologic grade lesions in otherwise healthy patients. To assess the role of viruses in cSCC pathogenesis we utilized high throughput RNA sequencing across risk-stratified lesions. Skin excisions classified as high grade in immunocompromised patients, low grade in otherwise healthy patients, and normal skin were used for detection of any non-human RNA. Reads were aligned to known viral transcriptomes using our recently developed Microbiome Coverage Profiler. While approximately two-thirds of all samples tested positive for HPV gDNA, no skin sample had detectable expression of HPV RNA.

2021-03-02 | GSE111354 | GEO

Characterisation of the adhesome of patient-derived cutaneous squamous carcinoma cells

Project description:Interactions between cells and the extracellular matrix, mediated by integrin adhesion complexes (IACs), play key roles in cancer progression and metastasis. We report here systems-level changes in the adhesome during progression of a patient-derived cutaneous squamous cell carcinoma (cSCC). We found that the actin regulatory protein Mena is enriched in IACs in metastatic cSCC cells and is connected within a subnetwork of actin-binding proteins to the LINC complex component nesprin-2.

2023-03-25 | PXD021492 | Pride

MicroRNA Expression in Cutaneous Squamous Cell Carcinoma

2015-02-28 | GSE57768 | GEO

AK144841 in Cutaneous Squamous Cell Carcinoma (cSCC)

Project description:AK144841 in Cutaneous Squamous Cell Carcinoma (cSCC)

| PRJNA352422 | ENA