Boston researchers aim to profile, genotype hundreds of cancer mutations

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In an effort to speed the development of cancer treatments that target the genetic weaknesses in each individual patient’s tumor, Dana-Farber Cancer Institute and Brigham and Women’s Hospital, both in Boston, have launched Profile, a program to scan tumor tissue from adult cancer patients for hundreds of gene mutations linked to cancer.

Profile will be open to every adult cancer patient seen in the Brigham and Women’s and Dana-Farber Longwood Medical Area Clinics, and aims to build a comprehensive database for research into the genetic makeup of different cancer types, eventually leading to treatments that are most effective against individual tumors.

The program has been in development for nearly two years and will be extended to pediatric cancer patients at Dana-Farber and Children’s Hospital Boston in the coming year.

Targeted therapies already exist that focus on genetic mutations in colon, lung and breast cancers, as well as some leukemias and sarcomas. Profile’s goal is to identify even more mutations in a wider array of cancers that will result in additional targeted therapies in the future.

"Profile will put us firmly on the path to realizing the promise of personalized medicine. By genotyping each tumor--identifying the set of mutations that drive it--we'll be able to design therapies geared specifically to those mutations, depriving the tumor of the ability to sustain itself while producing a minimum of side effects," Barrett Rollins, MD, PhD, Dana-Farber's chief scientific officer and one of the architects of the program, said in a statement. "We're laying the foundation for the development, testing and implementation of such therapies, and we expect the project to grow as we discover new cancer-related gene mutations and with the development of new technologies."

Researchers will be using a custom-designed system for tissue-testing that was developed by investigators at Dana-Farber and the Broad Institute of MIT and Harvard. The system makes use of high-speed, high-capacity robotics to quickly process large numbers of tumor tissue samples.

Profile tests tumor samples for nearly 500 cancer mutations in 41 genes, and program leaders expect more than 10,000 people will participate each year. Participants will have information from their medical record regarding their disease and treatment responses stored in a separate database which, when linked with their tumor tissue scans, can provide clues into which specific therapies are most effective against different tumor types.

Tumors that look and act alike can carry different sets of mutations, which influence how cancers grow, spread and respond to treatment. The only way to capture the enormous diversity of cancer at the genetic level is through data collection on a mass scale, according to Profile researchers.