|
| Status |
Public on Nov 30, 2015 |
| Title |
Rare CNVs in Lynch Syndrome patients negative for mutations in mismatch repair genes [Affymetrix] |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
Genome variation profiling by SNP array
|
| Summary |
Only a small proportion of cases suspected to have Lynch Syndrome (LS) can be explained by mutation in the mismatch repair (MMR) genes. This study aimed to identify rare CNVs that may contribute to an increased risk for hereditary colorectal cancer in patients with MMR proficiency.
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| |
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| Overall design |
Genomic DNA was extracted from the blood of 26 unrelated patients who met criteria for LS (Amsterdam or Bethesda). Genomic alterations were evaluated using the CytoScan HD microarray platform.
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| |
|
| Contributor(s) |
Villacis RA |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Sep 02, 2015 |
| Last update date |
Jul 13, 2018 |
| Contact name |
Rolando Andre Rios Villacis |
| E-mail(s) |
rolando.andre@unb.br
|
| Phone |
+5561996912223
|
| Organization name |
University of BrasÃlia - UnB
|
| Department |
Genetics and Morphology
|
| Lab |
Genetic Toxicology
|
| Street address |
Asa Norte
|
| City |
BrasÃlia |
| State/province |
DF |
| ZIP/Postal code |
70910-900 |
| Country |
Brazil |
| |
|
| Platforms (1) |
| GPL16131 |
[CytoScanHD_Array] Affymetrix CytoScan HD Array |
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| Samples (22)
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| This SubSeries is part of SuperSeries: |
| GSE72668 |
Rare CNVs in Lynch Syndrome patients negative for mutations in mismatch repair genes |
|
| Relations |
| BioProject |
PRJNA294621 |
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