Researchers unveil largest database of cancer-related genetic variations

As cancer treatment evolves from the traditional, one-size-fits-all chemotherapy approach toward tailored treatments, researchers at the National Cancer Institute (NCI) have generated the largest data set of cancer-specific genetic variations.

Dubbed CellMiner, the database, which contains 6 billion data points that connect drugs and various gene expressions and mutations, will be open to the public as a tool for scientists looking to better understand these genetic variations and how they impact drug response.

"Our goal is to match the genomics with the therapies and deliver the therapies to patients," Dr. Yves Pommier, chief of NCI's Laboratory of Molecular Pharmacology in Bethesda, MD, said in an interview with FierceBiotechResearch.

Dr. Yves Pommier, chief of NCI's Laboratory of Molecular Pharmacology

The NCI team generated the expansive data set by conducting whole-exome sequencing of the NCI-60 human cancer cell line panel--a collection of 60 human cancer cell lines from 9 different kinds of cancer tissues used to discover novel anticancer drugs. They then extracted DNA from the 60 different cell lines--which came from lung, colon, brain, ovary, breast, prostate and kidney cancer as well as leukemia and melanoma tumors--and generated a list of genetic coding variants for the entire human genome, which consists of roughly 20,000 genes.

Researchers divided the genetic variations they found into two types: type I variants, which are found in the normal population, and type II variants, which are cancer-specific. The team then tested 103 anticancer drugs approved by the FDA and another 207 investigational new drugs to evaluate their response in cells harboring type II genetic variants. This allowed the researchers to study the correlations between key cancer-related genes and clinically relevant anticancer drugs, and predict how cancer-infected cells react to various drugs.

The database also includes 20,000 chemicals that are up for development--a facet that Pommier said could help encourage the more rational use of cancer drugs. "With existing drugs listed in the database, you could better understand where they work best," Pommier said. "It validates what is known but it opens the door to do additional matching."

Users will be able to log on to CellMiner and download data as Excel documents.

The NCI team's research is published in Cancer Research, a journal of the American Association for Cancer Research.

- here's the press release
- and the study abstract