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TranscriptomicsGenome-wide analysis of esopageal adenocarcinoma tumor biopsy using high-density single-nucleotide polymorphism arrays.
We applied whole-genome single nucleotide polymorphism (SNP) arrays to define a comprehensive genetic profile of 23 esophageal adenocarcinoma (EAC) primary tumor biopsies based on loss of heterozygosity (LOH) and DNA copy number changes. Alterations were common, averaging 97 (range 23-208) per tumor...
ORGANISM(S): Homo sapiens 
2008-06-01 | E-GEOD-10506 | biostudies-arrayexpress
TranscriptomicsWhole genome expression array profiling highlights differences in mucosal defense genes in Barrett's esophagus and esophageal adenocarcinoma.
Esophageal adenocarcinoma (EAC) has become a major concern in Western countries due to rapid rises in incidence coupled with very poor survival rates. One of the key risk factors for the development of this cancer is the presence of Barrett’s esophagus (BE), which is believed to form in response to ...
ORGANISM(S): Homo sapiens 
2011-08-16 | E-GEOD-28302 | biostudies-arrayexpress
GenomicsGenomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis.
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes. While large EAC exome sequencing efforts to date have found recurrent loss-of-function mutations, oncogenic drivin...
EGAS00001000750 | EGA
GenomicsQCMG_20140410_OESO - samples
Description not provided
EGAD00001000845 | EGA
GenomicsWhole Genome Sequencing of Esophageal Adenocarcinomas DAC
Data Access Committee EGAC00001000192
EGAC00001000192 | EGA
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
UnknownMultitrait genetic association analysis identifies 50 new risk loci for gastro-oesophageal reflux, seven new loci for Barrett's oesophagus and provides insights into clinical heterogeneity in reflux diagnosis.
Not available
S-EPMC9120377 | biostudies-literature
UnknownGlobal Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.
Not available
S-EPMC9903716 | biostudies-literature
UnknownGenomics yields biological and phenotypic insights into bipolar disorder.
Not available
S-EPMC12163093 | biostudies-literature
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