VHL, which affects up to 1 in 36,000 people globally, is caused by a germline mutation in the VHL gene, and is associated with a high lifetime risk of multiple cancers, including renal cell carcinoma (RCC) and pancreatic cyst/neuroendocrine tumors (PCT). There are, however, no reliable biomarkers for determining which patients with VHL are at the highest cancer risk.
For this study, researchers evaluated blood telomere length samples from 184 patients with VHL and 92 healthy family controls to determine whether shortened telomere length can predict cancer risk in this population.
After adjusting for age, the researchers found that patients with VHL had a “significantly shorter telomere length than healthy family controls.”
After adjusting for gender, family history, and variety of VHL mutation, hazard ratios for developing particular cancers at an early age were: 2.13 for RCC, 2.09 for PCT, and 1.88 for central nervous system hemangioblastoma.
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