Patient-Specific Factors Influence Somatic Variation Patterns in Von Hippel-Lindau Disease Renal Tumors

Study ID Alternative Stable ID Type
phs001107 Tumor vs. Matched-Normal

Study Description

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.

Archive Link Archive Accession
dbGaP phs001107

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