Mutations of the D310 mitochondrial mononucleotide repeat in primary tumors and cytological specimens

Cancer Lett. 2003 Feb 10;190(1):73-7. doi: 10.1016/s0304-3835(02)00578-5.


A mononucleotide repeat (D310) in mitochondrial DNA has been recently identified as a mutational hot spot in primary tumors. We analyzed 56 tumors for insertion/deletion mutations in the D310 repeat. A total of 13 mutations were detected. The highest frequency of mutations was found for cervical cancer, followed by bladder tumors, breast cancer and endometrial neoplasia. No alterations were observed in four patients suspected of malignancy but without evidence of malignant tumor. We detected identical changes in four of four urine sediments from patients with bladder cancer and in three of three fine needle aspirates of patients with breast cancer. Our results indicate that D310 abnormalities are detectable in cytology specimens from patients with cancer and support the notion that D310 analysis may represent a new molecular tool for cancer detection.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics
  • Carcinoma / genetics*
  • Carcinoma, Transitional Cell / genetics*
  • DNA / metabolism
  • DNA, Mitochondrial*
  • Endometrial Neoplasms / genetics
  • Female
  • Gene Deletion
  • Humans
  • Microsatellite Repeats / genetics*
  • Mitochondria / metabolism*
  • Mutation*
  • Neoplasms / genetics*
  • Neoplasms / metabolism*
  • Polymerase Chain Reaction
  • Repetitive Sequences, Nucleic Acid / genetics
  • Silver Staining
  • Urinary Bladder Neoplasms / genetics
  • Uterine Cervical Neoplasms / genetics


  • DNA, Mitochondrial
  • DNA