The 9-bp deletion at position 8272 in region V of mitochondrial DNA is associated with renal cell carcinoma outcome

Abstract

Mitochondrial DNA (mtDNA) is considered a mutation hotspot in various types of tumors, and mitochondrial DNA microsatellite instability (mtMSI) is associated with various cancers. We had previously identified cancer risk-associated MSIs in the D-loop region of mtDNA in renal cell carcinoma (RCC) patients. In the present study, we further investigated the association of MSIs in the non-D-loop region of mtDNA with cancer risk and outcome of RCC. Six microsatellite loci (5892, 8272, 8280, 8281, 8289, 9777) in the non-D-loop of mtDNA were assessed. The CCCCCTCTA at position 8272 was associated with cancer outcome in an overall multivariate analysis (relative risk, 1.599; 95%CI, 1.365–1.872; p < 0.001). mtMSI at position 8272 can therefore be used as an independent prognostic marker for RCC patients.

• 8272CCCCCTCTA/del
• MSI
• mtDNA
• outcome
• renal cell carcinoma
• risk

Declaration of interest

All of the authors declare that financial, consulting and personal relationships with other people or organizations did not influence this work. This work was supported by the project of the Hebei Natural Science Fund (H2012206157) and the Hebei Medical Science major project (GL2011-51).