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Digital quantification of mutant DNA in cancer patients

Diehl, Franka,b; Diaz, Luis A Jra

doi: 10.1097/CCO.0b013e328011a8e7
Cancer biology

Purpose of review The accumulation of somatic mutations is the major driving force for tumorigenesis. These mutations uniquely differentiate tumor cells from their normal counterparts. Mutations within tumor cells and mutant DNA released by tumor cells into blood, lymph, stool, tissues and other bodily compartments can thereby be used for cancer detection. Here we discuss technologies available for the detection and quantification of mutant DNA in clinical samples and the value of such measurements for patient management.

Recent findings Conventional mutation detection technologies are either qualitative or only roughly estimate the abundance of mutant DNA molecules. Recently-developed approaches, however, use single molecule counting to determine the genotype of each individual member of a DNA population, providing a more accurate and precise digital output.

Summary In this review, we discuss the clinical utility of mutant DNA quantification in cancer patients in the context of recent technical advances made in digital mutation detection.

aThe Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, USA

bThe Howard Hughes Medical Institute, The Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland, USA

Correspondence to Frank Diehl, PhD, The Ludwig Center for Cancer Genetics and Therapeutics, The Johns Hopkins Kimmel Cancer Center, 1650 Orleans Street, Room 590, Baltimore, MD 21231, USA Tel: +1 410 955 8878; fax: +1 410 955 0548; e-mails:,

Conflict of Interest and Sponsorship Statements: No conflicts declared.

© 2007 Lippincott Williams & Wilkins, Inc.