<p>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.</p>

Patient-Specific Factors Influence Somatic Variations in VHL Tumors

von Hippel-Lindau Disease study with SNP Genotypes (NGS), WGS data on dbGaP (6 participants)

Patient-Specific Factors Influence Somatic Variations in VHL Tumors

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