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Items: 7

1.

Dominant MLH1 epimutation linked to 5'UTR variant c.-27C>A

(Submitter supplied) Constitutional epimutations of tumor suppressor genes manifest as promoter methylation and transcriptional silencing of a single allele in normal somatic tissues, thereby predisposing to cancer. Constitutional MLH1 epimutations occur in individuals with young-onset cancer and demonstrate non-Mendelian inheritance through their reversal in the germline. We report a cancer-affected family showing dominant transmission of soma-wide highly mosaic MLH1 methylation and transcriptional repression linked to a particular genetic haplotype. more...
Organism:
Homo sapiens
Type:
Genome variation profiling by SNP array
Platform:
GPL6801
5 Samples
Download data: CEL, TXT
Series
Accession:
GSE30348
ID:
200030348
2.

[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array

(Submitter supplied) Affymetrix submissions are typically submitted to GEO using the GEOarchive method described at http://www.ncbi.nlm.nih.gov/projects/geo/info/geo_affy.html June 03, 2009: annotation table updated with netaffx build 28 (ucsc=hg18; ncbi=NCBI36) August 01, 2012: annotation table updated with netaffx build 32 (ucsc=hg19; ncbi=GRCh37) Protocol: see manufacturer's web site The new Affymetrix® Genome-Wide Human SNP Array 6.0 features 1.8 million genetic markers, including more than 906,600 single nucleotide polymorphisms (SNPs) and more than 946,000 probes for the detection of copy number variation. more...
Organism:
Homo sapiens
404 Series
22859 Samples
Download data
Platform
Accession:
GPL6801
ID:
100006801
3.

PBMC_epimutationpatientIII2_rep1

Organism:
Homo sapiens
Source name:
Peripheral blood lymphocytes, asymptomatic carrier
Platform:
GPL6801
Series:
GSE30348
Download data: CEL
Sample
Accession:
GSM752553
ID:
300752553
4.

PBMC_epimutationpatientI1_rep1

Organism:
Homo sapiens
Source name:
Peripheral blood lymphocytes, cancer-affected carrier
Platform:
GPL6801
Series:
GSE30348
Download data: CEL
Sample
Accession:
GSM752552
ID:
300752552
5.

PBMC_epimutationpatientII5_rep1

Organism:
Homo sapiens
Source name:
Peripheral blood lymphocytes, cancer-affected carrier
Platform:
GPL6801
Series:
GSE30348
Download data: CEL
Sample
Accession:
GSM752551
ID:
300752551
6.

PBMC_epimutationpatientII2_rep1

Organism:
Homo sapiens
Source name:
Peripheral blood lymphocytes, asymptomatic carrier
Platform:
GPL6801
Series:
GSE30348
Download data: CEL
Sample
Accession:
GSM752550
ID:
300752550
7.

PBMC_epimutationpatientII4_rep1

Organism:
Homo sapiens
Source name:
Peripheral blood lymphocytes, asymptomatic carrier
Platform:
GPL6801
Series:
GSE30348
Download data: CEL
Sample
Accession:
GSM752549
ID:
300752549
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Supplemental Content

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