Cancer Sequencing Controls

Comparing a patient’s tumor DNA sequence with that of her normal tissue can improve researchers’ identification of disease-associated mutations.

Written byRuth Williams
| 3 min read

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SONYA PARPART-LIIt is increasingly common practice for researchers to scan DNA sequence data from tumor biopsies of cancer patients—the idea being that the presence of mutations might inform tailored treatments or prognoses. It is not common, however, to sequence these patients’ normal DNA, which, according the authors of a study published today (April 15) in Science Translational Medicine, is a serious omission.

“This paper really emphasizes how important it is to compare an individual patient’s tumor [DNA] to that individual patient’s [normal sequence],” said oncologist George Demetri of Harvard Medical School and the Dana-Farber Cancer Institute who was not involved in the study. “It’s not as simple as getting a part of the tumor, genotyping it, and thinking you have the answer.”

“One of the most basic aspects of any scientific approach is to have an analysis and a very good control,” said Victor Velculescu of Johns Hopkins University who led the new study, “and this fundamental rule is being violated essentially by a lot of folks doing this type of analysis.”

Velculescu explained that, historically speaking, there was perhaps good reason for analyzing only the tumor: ...

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  • ruth williams

    Ruth is a freelance journalist. Before freelancing, Ruth was a news editor for the Journal of Cell Biology in New York and an assistant editor for Nature Reviews Neuroscience in London. Prior to that, she was a bona fide pipette-wielding, test tube–shaking, lab coat–shirking research scientist. She has a PhD in genetics from King’s College London, and was a postdoc in stem cell biology at Imperial College London. Today she lives and writes in Connecticut.

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