Mitochondrial DNA alteration in esophageal cancer

It has been reported that various cancers frequently have mutations in the D-loop region of mitochondrial DNA (mtDNA). We examined the genetic alterat ions in this region of esophageal cancer using direct sequencing, Of 68 seq uence variants, 15 have not been reported to date. Tumor mtDNA with these v ariants were compared with mtDNA from corresponding normal esophageal mucos a. Two of 37 primary esophageal cancers (5%) contained somatic mutations in the D-loop region of mtDNA. Although the mutation rate of mitochondrial tu mor DNA within the D-loop was not high, this result suggested that mtDNA mu tations play a role in the development of esophageal cancer. (C) 2001 Wiley -Liss, Inc.