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ShareScore release 0.9.0
Dataset results
98 results for “germline mutation”
Germline NRAS mutation causes a novel human autoimmune lymphoproliferative syndrome
GEO Series GSE7345. Homo sapiens. 8 samples. Type: Expression profiling by array.
SNP array data for Wilms Tumor harboring de novo germline mutation in CTCF
GEO Series GSE193017. Homo sapiens. 1 samples. Type: Genome variation profiling by genome tiling array; Genome variation profiling by SNP array; SNP genotyping by SNP array.
Genome wide analysis of tumours in individuals with p53-germline mutations
GEO Series GSE34323. Homo sapiens. 7 samples. Type: Genome variation profiling by SNP array.
The common germline TP53-R337H mutation is hypomorphic and confers incomplete tumor penetrance and late tumor onset in a mouse model
GEO Series GSE166819. Mus musculus. 14 samples. Type: Expression profiling by array.
A Germline Point Mutation in the MYC-FBW7 Phosphodegron Results in a Tumor-Prone Phenotype
GEO Series GSE247757. Mus musculus. 58 samples. Type: Expression profiling by high throughput sequencing; Other; Genome binding/occupancy profiling by high throughput sequencing.
TCF4 germline mutation and adult-onset SHH medulloblastoma
GEO Series GSE126545. Homo sapiens. 1 samples. Type: Methylation profiling by array.
Fluzoparib as Adjuvant Treatment in Patients With Germline Homologous Recombination Repair (HRR) Mutated Primary Breast Cancer (Flamenco)
ClinicalTrials.gov study NCT07353437. IPD Sharing: NO. Countries: 0. Publications: 0.
Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
ClinicalTrials.gov study NCT06923670. IPD Sharing: UNDECIDED. Countries: 0. Publications: 0.
PARP-inhibitor on Advanced Metastatic Breast Cancer in Germline PALB2 Mutations Carriers
ClinicalTrials.gov study NCT05232006. IPD Sharing: UNDECIDED. Countries: 0. Publications: 0.
Modeling germline mutations in pineoblastoma uncovers lysosome disruption-based therapy
GEO Series GSE124537. Mus musculus. 26 samples. Type: Expression profiling by array.
Pedigree Study and Functional Analysis of Novel Germline p. R21Afs MEN1 Mutation in a Multiple Endocrine Neoplasia Type 1 Family
GEO Series GSE221993. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Disseminated medulloblastoma in a child with germline BRCA2 6174delT mutation and without Fanconi anemia
GEO Series GSE70003. Homo sapiens. 2 samples. Type: Genome variation profiling by genome tiling array.
Germline NPM1 mutations lead to altered rRNA 2’-O-methylation and cause dyskeratosis congenita
GEO Series GSE135726. Mus musculus. 5 samples. Type: Expression profiling by array; Other.
A germline mutation in human Oxidation Resistance 1 gene causes developmental delay, epilepsy and cerebellar atrophy
GEO Series GSE86426. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation
GEO Series GSE85791. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Germline NPM1 mutations lead to altered rRNA 2’-O-methylation and cause dyskeratosis congenita (HITS-CLIP)
GEO Series GSE135724. Mus musculus. 1 samples. Type: Other.
Germline NPM1 mutations lead to altered rRNA 2’-O-methylation and cause dyskeratosis congenita (microarray)
GEO Series GSE135725. Mus musculus. 4 samples. Type: Expression profiling by array.
Dataset related to article "Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis"
<p>This record contains raw data related to article "Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis"</p><p> Abstract</p><p>We investigate the prevalence of germline mutations in cancer predisposition genes in patients with pancreatic ductal adenocarcinoma (PDAC) or suspected related hereditary syndromes.</p><p>Methods: we enrolled for NGS with an Illumina TrueSight Cancer panel comprising 19 CPGs and 113 consecutive subjects referred to cancer genetic clinics for metastatic PDAC, early onset PDAC, suspected hereditary syndrome, or positive family history.</p><p>Results: Overall, 23 (20.1%) subjects were carriers of 24 pathogenetic variants (PVs). We found 9 variants in BRCA2 (37.5%), 6 in CDKN2A (25%), 3 in ATM (12.5%), 2 in BRCA1 (8.3%), 1 in CHEK2 (4.1%), 1 in PALB2 (4.1%), 1 in MITF (4.1%), and 1 in FANCM (4.1%). A double PV (BRCA1 plus BRCA2) was found in 1 subject. We observed a nearly 30% (16/55) mutational rate in the subgroup of subjects tested for the suspected syndromes (PDAC and other synchronous or metachronous tumors or an indicative family history), and the frequency was significantly higher than that in patients with only metastatic PDAC (p = 0.05). In our cohort, 39 variants of unknown significance (VUS) were identified, most of which (16/39, 41%) in genes belonging to the Lynch syndrome spectrum.</p><p>Conclusion: A clinically relevant proportion of pancreatic cancer is associated with mutations in known predisposition genes. Guidelines instructing on an adequate selection for accessing genetic testing are eagerly needed. The heterogeneity of mutations identified in this study reinforces the value of using a multiple-gene panel in pancreatic cancer.</p><p> </p>
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.