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- Study Description
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- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
Patients affected with von Hippel-Lindau disease are at risk of developing multiple independent clear cell renal carcinomas. This study performed whole genome sequencing on 40 tumors from 6 VHL patients to compare somatic variation patterns within and between patients. Although tumors from the same patient showed many differences, within-patient patterns were discernible. Single-nucleotide substitution type rates were significantly different between patients and showed biases in trinucleotide mutation context. We also observed biases in chromosome copy number aberrations. These results show that genetic background and/or environment can influence the types of mutations that occur.
- Study Design:
- Tumor vs. Matched-Normal
- Study Type:
- Tumor vs. Matched-Normal
- Total number of consented subjects: 6
- Subject Sample Telemetry Report (SSTR)
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- Publicly Available Data
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- Study Inclusion/Exclusion Criteria
The National Cancer Institute has a frozen tumor bank of ccRCC tumors that have been removed from VHL patients. We selected six patients, three males and three females, with at least five tumors from a single surgery from one kidney. They spanned a wide range of ages, BMIs, and smoking exposures. For three of the patients, adjacent normal kidney tissue was also available. A total of 42 tumors, 6 normal blood samples, and 3 adjacent normal kidney tissue samples were sequenced using Illumina's Human Whole Genome Sequencing service.
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Whole Genome Sequencing Illumina HiSeq 2000 N/A N/A - Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: von Hippel-Lindau Disease
- Links to Related Genes
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- Study Attribution
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Principal Investigators
- Paul Spellman, PhD. Oregon Health and Science University, Portland, OR, USA.
- W. Marston Linehan, MD. Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
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Funding Source
- Intramural Research Program of the National Insititutes of Health. Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
- Knight Cancer Institute, Oregon Health and Science University, Portland, OR, USA.
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Principal Investigators