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Status |
Public on Nov 30, 2015 |
Title |
Rare CNVs in Lynch Syndrome patients negative for mutations in mismatch repair genes [Agilent] |
Organism |
Homo sapiens |
Experiment type |
Genome variation profiling by genome tiling array
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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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Overall design |
Genomic DNA was extracted from the blood of 54 unrelated patients who met criteria for LS (Amsterdam or Bethesda). Genomic alterations were evaluated using the Agilent-022060 4x180K microarray platform. The reference was a pool of normal male DNA (Promega, cat. no. G1471) or normal female DNA (Promega, cat.no. G1521).
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Contributor(s) |
Villacis RA |
Citation missing |
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Submission date |
Sep 02, 2015 |
Last update date |
Dec 01, 2015 |
Contact name |
Rolando Andre Rios Villacis |
E-mail(s) |
rolando.andre@unb.br
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Phone |
+5561996912223
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Organization name |
University of BrasÃlia - UnB
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Department |
Genetics and Morphology
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Lab |
Genetic Toxicology
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Street address |
Asa Norte
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City |
BrasÃlia |
State/province |
DF |
ZIP/Postal code |
70910-900 |
Country |
Brazil |
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Platforms (1) |
GPL10150 |
Agilent-022060 SurePrint G3 Human CGH Microarray 4x180K (Probe Name version) |
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Samples (45)
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This SubSeries is part of SuperSeries: |
GSE72668 |
Rare CNVs in Lynch Syndrome patients negative for mutations in mismatch repair genes |
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Relations |
BioProject |
PRJNA294620 |