EGAGenomicsCancer Genomicshttps://ega-archive.org/studies/EGAS00001007746EGAEGA study EGAS00001007746Activation of Wnt/β-catenin signalling by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary gland basal cell adenoma - RNAEGArestrictedPapillary Adenomas, Adenocarcinoma, Carcinoma, Oxyphilic, Trabecular Adenomas, Adenomas, Basal Cell, Oxyphilic Adenocarcinoma, adenoma, Malignant, ADNOS, Adenocarcinomas, Microcystic, Monomorphic Adenomas, Granular Cell Adenocarcinomas, Monomorphic, "adenocarcinoma, Tubular, Malignant Adenoma, "adenocarcinoma" EXACT [NCI2004_11_17:C2852], Trabecular, Granular Cell Adenocarcinoma, no subtype (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:35917007], Tubular Carcinoma, Granular Cell, Oxyphilic Adenocarcinomas, Basal Cell Adenocarcinomas, Basal Cell Adenocarcinoma, Follicular, Carcinomas, acinar cell adenoma (morphologic abnormality), Follicular Adenoma, Microcystic Adenomas, Adenoma, acinar cell adenoma, Granular Cell Carcinoma, "adenocarcinoma" EXACT [CSP2005:2000-0386], Monomorphic Adenoma, Tubular Adenocarcinoma, Cribriform, Tubular Carcinomas, benign, Cribriform Carcinomas, Microcystic Adenoma, "adenocarcinomas" EXACT [SNOMEDCT_2005_07_31:189578007], Tubular Adenocarcinomas, Malignant Adenomas, Papillary, Cribriform Carcinoma., Granular Cell Carcinomas, Papillary Adenoma, Basal Cell Adenoma, Follicular Adenomas, Trabecular Adenoma, "adenocarcinoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189582009], Basal Cell AdenomasForms, Epithelial Tissues, MGC130048, the integument, Materials, pelt, determination, Adenomas, Skn-li, firm, A4, Gene Expression Profile, "skin cancer" EXACT [CSP2005:2020-0536], "malignant neoplasm of skin NOS (disorder)" EXACT [SNOMEDCT_2005_07_31:188143008], Profiles, Cancer of Skin, ADNOS, Hair, Monomorphic Adenomas, cancer of skin, Epithelial Tissue, Granular Cell Adenocarcinoma, impenetrable, Tubular Carcinoma, animal, IKKg, Follicular, Hair Follicles, integumentum commune, KEY, Key, gamma sarcoglycan, acinar cell adenoma (morphologic abnormality), thymus nucleic acid, Follicular Adenoma, Prognoses, Genomes, Adenoma, Granular Cell Carcinoma, C1, Tissue, dermoid system, entire skin, outer epithelial layer, Tubular Carcinomas, benign, Microcystic Adenoma, Signatures, genetic, Follicle, Expression Signature, Fam91a1, Otf11, Transcriptomes, Basal Cell Adenoma, gamma-sarcoglycan, Allele, Double-Stranded DNA, deoxyribonucleic acids, associated, DNAn, Basal Cell Adenomas, Cancer of the Skin, AV220772, skin and subcutaneous tissue, Papillary Adenomas, Mesothelium, Carcinoma, wide/broad, malignant neoplasm of skin, Follicles, sudoriferous gland, Expression Profiles, SG-gamma, familial, CA - skin cancer, Maps, "malignant neoplasm of skin, integumental organ, Double-Stranded, Adenocarcinomas, Sweat, (Deoxyribonucleotide)n+m, Gene Expression, DmIKKgamma, portion of epithelium, Tubular, Gland, Malignant Adenoma, dIKK, Expression Signatures, BC033609, Kenny, Genetic Materials, sarcoglycan, simple tissue, "melanoma and Non-melanoma skin cancer" EXACT [NCI2004_11_17:C2920], desoxyribose nucleic acid, Expression Profile, Basal Cell Adenocarcinoma, Genetic Material, Transcriptome Profiles, Carcinomas, Factors, whole organism, acinar cell adenoma, Prognostic, IKK-gamma, Skin Cancer, Cribriform, whole genome, gamma (35kDa dystrophin-associated glycoprotein), Tubular Adenocarcinomas, mKIAA0493, Mesothelial Tissues, Atlases, Papillary, wide, vertebrate epidermis, DMDA, DmelCG16910, Cribriform Carcinoma., Material, 35kD dystrophin-associated glycoprotein, ds DNA, Koerper, Follicular Adenomas, Trabecular Adenoma, Cistron, inherited genetic, entire integument, DNA, melanoma and Non-melanoma skin cancer, dermal system, hypoderm, Prognostic Factor, Adenocarcinoma, dermis plus epidermis plus hypodermis, whole exome, Allelomorphs, region of skin, SGCG_HUMAN, DNS, (Deoxyribonucleotide)n, Trabecular Adenomas, Transcriptome Profile, Otf-11, Neoplasms, number, Oxyphilic Adenocarcinoma, adenoma, Gene, Prognostic Factors, broad, Malignant, presence, TYPE, dIKK-gamma, Microcystic, Deoxyribonucleic acids, epidermis, Granular Cell Adenocarcinomas, DAGA4, Monomorphic, Deoxyribonucleic Acid, tough, DmIKK-gamma, 35DAG, dmIKKgamma, Basal Cell Adenocarcinomas, MAM, gamma-SG, IKK[[gamma]], SCG3, Skn-1a, Epithelial, Sweat Gland, Organization, Glands, Melanocyte, Microcystic Adenomas, skin, Genetic, "malignant neoplasm of skin (disorder)" EXACT [SNOMEDCT_2005_07_31:372130007], Tissues, Profile, Tubular Adenocarcinoma, Double Stranded, Deoxyribonucleic acid, Cribriform Carcinomas, SKIN, Allelomorph, skin organ, IKK, Granular Cell Carcinomas, Mesothelial, epidermis (sensu Metazoa), (Deoxyribonucleotide)m, Skin Neoplasm, sudoriparous gland, constitutitional genetic, Methylations, Cancer, Oxyphilic, Oct-11a, Transcriptome, 35 kDa dystrophin-associated glycoprotein, body, Basal Cell, DNAn+1, "malignant neoplasm of skin" EXACT [MTH:NOCODE], skin zone, whole body, Factor, World Health, hypodermis, Cistrons, Cell, SGCG, LGMD2C, WHO, whole transcriptome, IKKgamma, skin plus hypodermis, count in organism, Oct11, skin region, chemical analysis, Gene Expression Signatures, Trabecular, Neoplasm, Skin Cancers, Granular Cell, Gene Expression Signature, Oxyphilic Adenocarcinomas, Skin-1a, methylation, ds-DNA, tegument, Skin, skin benign neoplasm, Mesothelial Tissue, "CA - skin cancer" EXACT [SNOMEDCT_2005_07_31:363511009], folliculus pili, DMDA1, epithelial tissue, Dmikkgamma, Monomorphic Adenoma, vertebrate integument, Cancers, CG16910, Malignant Adenomas, Epoc-1, unspecified (disorder)" EXACT [SNOMEDCT_2005_07_31:190107001], portion of skin, integument, glandula sudorifera, Papillary Adenoma, Gene Expression Profiles, SCARMD2, cardinality, Desoxyribonukleinsaeure, assay, outer epidermal layer, Signature, hereditaryfalseDERMATLAS SG basal cell adenoma and adenocarcinoma RNAseqirtually no other tumour type is associated with so many different forms as skin cancer. Histologically, tumours of the skin may arise from epithelium, including epidermis, hair follicle, sebaceous or sweat gland, melanocytes, dermal-associated mesenchymal structures or tissue resident immune cells, making for a diversity of clinical presentations. Importantly, many skin tumour types have an extremely poor prognosis. Many skin tumour subtypes have never undergone molecular profiling, or if they have, targeted sequencing has been used and the number of cases analyzed has been so limited that deriving firm conclusions about the profile of driver genes, DNA mutational signatures and germline alleles has not been possible For 70 key skin tumour subtypes defined by the World Health Organization, that have not undergone extensive genetic analysis previoulsy, we propose to perform whole exome and transcriptome sequencing, from a range of body sites, to build a genomic atlas of dermatological tumours, including detailed maps of SNVs, copy number alterations, genome-wide methylation and expression profiles. The cases in this cohort are SG basal cell adenomas and adenocarcinomas.2024-05-08 15:57:14EGAS000010077469606EGAD00001015366EGAC00001000000