Profile, a research project launched by scientists at Dana-Farber/Brigham and Women’s Cancer Center and Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, is one of the nation’s most comprehensive precision cancer medicine initiatives. Profile is a large-scale cohort research study aimed at collecting as much information and genomic data as possible for every type of cancer. The goal is to use this data to learn more about the genetic and molecular alterations that cause cancer to develop and progress. Researchers will use that information to develop better ways to treat cancer and strategies for preventing it.

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“Cancer is a genomic disease,” says Laura MacConaill, PhD, scientific director of the Profile Research Project and scientific director of the Center for Cancer Genome Discovery. “Gene mutations, chromosome alterations, and other DNA abnormalities enable cancer to grow and spread.”

Regardless of where in the body an individual’s cancer develops – lungs, skin, breast, kidney – its DNA contains a particular array of DNA alterations that collectively make up that patient’s “tumor profile.” This distinct set of mutations and other DNA changes dictates how the cancer behaves and what drugs it is likely to respond to. Someone else with the same type of cancer (such as lung cancer) will have a different genomic tumor profile.


High-throughput tools are used to analyze the genetic makeup of cancer cells and uncover mutations in tumor DNA

Every adult cancer patient seen through Dana-Farber/Brigham and Women’s Cancer Center and every pediatric cancer patient at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center is eligible to participate in the Profile study. If a patient consents, any clinically relevant information from the test can be shared with doctors to help guide treatment. In some instances, the results of Profile testing may help doctors enroll a patient in a clinical trial or choose the right combination of targeted therapies that are already FDA-approved.


Tumors are genotyped by pathologists in an advanced molecular diagnostic laboratory and the results are entered into data banks, which are accessible to cancer investigators for a variety of research projects

Using the power of next-generation sequencing, Profile researchers analyze samples of patients’ tumor DNA with a test called OncoPanel developed by scientists at Dana-Farber. This test can detect DNA alterations in more than 300 cancer-related genes using a single sample of tumor, either tissue or blood.

“With Profile, we test all types of cancer,” MacConaill explains. “We take adult and pediatric cancers regardless of the type of tumors they are, and we put this data in a research database. Profile is going to allow people in our institutions to mine the data and uncover new ideas and new connections and patterns in that data for many years to come.”

All of the data collected through the study may also be anonymously linked with patients’ clinical data (e.g., course of the illness, response to treatment, etc.) to enable researchers to study the impact of different mutations on response to treatments and on outcomes. This information will be critical to inform future cancer research and develop new targeted cancer therapies.

What can research like Profile tell us about cancer? 

What if we knew what drives growth in a full spectrum of cancers so we could develop better roadblocks? Which mutations prompt cancer cells to be aggressive and spread to other parts of the body? How does one type of cancer – breast cancer, lung cancer, or multiple myeloma, perhaps – differ genetically from patient to patient? And, most importantly, which cancer treatments will work best for your cancer and which ones may not be as effective?


A DNA microarray is an innovative technology that acts like a tiny laboratory on a silicon rectangle the size of a postage stamp to measures gene expression by converting the data into a vivid, colorful display representing genetic activity

Just a decade ago, our researchers discovered that patients with a type of non-small cell lung cancer who had a malfunctioning protein called EGFR responded robustly to a new drug called gefitinib (Iressa). This milestone in targeted therapy transformed the way the disease is treated around the world. More than a dozen targeted therapies for adenocarcinoma, the most common lung malignancy, now exist. Some are FDA-approved, and others are being tested in clinical trials. Among them is the targeted drug crizotinib (Xalkori), which has extended lives and enhanced the quality of life for certain advanced lung cancer patients whose tumor cells harbored abnormalities in ALK genes. ALK abnormalities occur in other cancers, too, including neuroblastoma and lymphoma.

Now, as Profile becomes more powerful thanks to next-generation sequencing that digs deeper and more broadly into a tumor’s DNA, researchers expect these clinical connections to increase.

The power of Profile lies in the sheer volume of the data it is amassing on the genetics of cancer, and the potential to correlate distinctive DNA abnormalities in a specific person’s cancer with its behavior and how it responds to treatment, explains Barrett Rollins, MD, PhD, Dana-Farber’s chief scientific officer.

Even in the study’s early stages, the results of a few patients’ tests have given them new options for clinical drug trials.

“Next-generation sequencing tells us a lot more of what could potentially be driving a person’s cancer,” says Rollins. “It reveals a lot more about what might be treatable by targeted medicine in the future.”

In this video, scientists show how genetic testing in cancer happens – from tumor sample collection to data analysis – and talk about the promise that the technology holds for cancer research and care.