Detection of DNA variation in cancer

Eivind Hovig*, Birgitte Smith-Sørensen, André G. Uitterlinden, Anne Lise Børresen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

12 Citations (Scopus)


Detection of DNA variation in cancer is central to the identification of relevant genes and mutations involved in the tumourigenic process. Diverse methods exist for such detection. One category of methods is for the detection of frequent sites for larger DNA alterations in cancer. Such areas may provide clues to the positioning of relevant genes, such as loss of heterozygosity (LOH) as in the case of tumour suppressor genes. Another category of methods is for the detection of single base mutations within specific genes. Frequently, such mutations may obliterate normal protein function. Among the most well-known are DGGE, SSCP, the HOT-method and direct sequencing. The methods for detection of DNA variation of these different levels are discussed. Two methods are presented in more detail. At the large-scale level, two-dimensional DNA fingerprinting has the potential of revealing the extent and location of altered DNA regions. This method is demonstrated using a panel of breast cancer patients. As an example of methods for the small-scale level, a recent development from DGGE, constant denaturant gel electrophoresis (CDGE) is demonstrated. This method has successfully been applied for the detection of mutations in a number of genes. Results with this method in studies of the RBI gene are given, and its applicability as a screening tool for base mutations is discussed.

Original languageEnglish
Pages (from-to)317-328
Number of pages12
Issue number6
Publication statusPublished - Dec 1992
Externally publishedYes


Dive into the research topics of 'Detection of DNA variation in cancer'. Together they form a unique fingerprint.

Cite this