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| Status |
Public on Feb 15, 2016 |
| Title |
Large genomic alteration of 7q in two patients with multiple primary cancers, including triple negative breast cancer, and family history of malignant neoplasms |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
Genome binding/occupancy profiling by genome tiling array
|
| Summary |
A great percentage of patients with multiple primary cancers (MPCs) and family history of cancer are suspected to have a hereditary cancer predisposition syndrome. However, only a small proportion of these cases are explained by mutations in high-penetrance genes, suggesting the involvement of undiscovered genes in cancer predisposition. In this study, we report the molecular and clinical characterization of two unrelated patients with MPCs, a positive family history of cancer, no germline pathogenic mutations in BRCA1, BRCA2 and TP53 genes and large genomic rearrangements mapped on chromosome 7q.
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| Overall design |
Genomic rearrangements were assessed with Affymetrix CytoScan HD Array platform in two unrelated patients (Patient 1 and Patient 2) with multiple primary cancers. The mother of Patient 2 and five children (two of Patient 1 and three of Patient 2) were also evaluated. In addition, we performed the transcriptome analysis of the triple negative BC from Patient 2 using the Affymetrix HTA 2.0 platform.
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| Contributor(s) |
Villacis RA |
| Citation(s) |
28139749 |
| |
| Submission date |
Jan 22, 2016 |
| Last update date |
Oct 29, 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 |
| |
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| Platforms (2) |
| GPL16131 |
[CytoScanHD_Array] Affymetrix CytoScan HD Array |
| GPL17586 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
| Samples (13)
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| Relations |
| BioProject |
PRJNA309532 |
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