Rose Brockhouse (left) and Dr. Elaine Mardis (right) in front of the Genome Institute’s pink Illumina GAIIx sequencer.
October is National Breast Cancer Awareness Month and pink is the campaign’s color of choice. Organizations everywhere have joined in with pink packaging for products, ribbons and other paraphernalia to show their support for the cause.
The Genome Institute at Washington University is also participating, after being presented with pink ‘skins’ for one of the institute’s Illumina GAIIx sequencers. The panels were a gift from the company to celebrate the completion of the Washington University Cancer Genome Initiative, a collaboration between Illumina and The Genome Institute to sequence the genomes of 150 cancer patients. The transformed pink machine serves as a reminder of the exciting research taking place at the institute to help understand and improve treatment for breast cancer.
Breast cancer is one of the most common cancers among women in the US. The American Cancer Society estimates there were almost 200,000 new cases diagnosed in 2009. A great deal of research on breast cancer has focused on the genetics underlying the disease. A number of mutations have been linked to breast cancer, and The Genome Institute is using the latest sequencing technology to study these and as yet undiscovered changes to an individual’s genome that contribute to the disease development and clinical course.
In collaboration with a large breast cancer trial, led by the American College of Surgeons Oncology Group (ACOSOG), The Genome Institute is sequencing patients’ tumor and normal genomes, then re-sequencing the tumor post-treatment to see the drug’s effects. Some patients respond well to treatment, a class of chemotherapy drugs known as aromatase inhibitors, while others are resistant to the drugs. Dr. Elaine Mardis, The Genome Institute’s Co-Director, says that the results of what has been sequenced so far look promising: “We’re starting to pick up on changes that make sense in the context of the tumor biology,” she says. But she also cautions that many more samples must be analyzed before they can come to any final conclusions.
The breast cancer research going on at The Genome Institute resonates personally with one of the institute’s administrators, Rose Brockhouse. First diagnosed with breast cancer in 1991, Rose knew very little about the genetics involved in the disease. She knew the disease ran in her family – a cousin was diagnosed around the same time she was (both survived) and she lost an older sister to the disease. Her strong family history prompted Dr. Mary Claire King to include them in a trial looking for genes that increase risk for breast cancer. As a result of this and other studies, two genes in particular – BRCA1 and BRCA2 – were found to be strongly linked to an increased risk of developing breast cancer.
At first – like many women – Rose was apprehensive about her BRCA status. “I wasn’t sure I wanted to know if I had the genetic mutation or not,” she says. But after her older sister passed away from the disease, she changed her mind. She was relieved when she found out she did not carry mutations in either of the genes, though a number of her family members do.
By the time Rose’s cancer recurred in 2008, she was working at The Genome Institute, where research on this and other diseases was front and center. “I am just so proud of where I work because I know what it can mean, not only for breast cancer patients but for patients with every disease we’ve worked on,” says Rose. While the work being done at The Genome Institute did not directly impact Rose’s treatment (she has overcome the disease a second time), she still sees a bright future: “I’ve always thought that we are laying the road map that other people are going to use to make new discoveries in medicine.”
Dr. Mardis agrees: “In my travels, I receive so much positive feedback from other scientists and cancer survivors that what we are doing is important, and that makes all the hard work worthwhile.”