Diagnosis for science's sake
In the Institute's Molecular Diagnostics Laboratory, the work of analyzing individual genes and sequences of genes is done to support scientific research, but the discoveries made as a result of these efforts will one day benefit patients with a wide variety of cancers.
Edward Fox, Ph.D.
The laboratory recently has become one of the Institute's "research core facilities," serving researchers throughout Dana-Farber. "As part of one study, we used liquidhandling robots and automated fluorescent DNA sequencers to help find genes that are active in breast cancer cells," says the lab's director, Edward Fox, Ph.D. "To support another study, we used a process called quantitative DNA amplification to examine a technique for inserting genes into cells."
Most of the laboratory's work has involved analyzing specific genes from patients' blood to determine if the genes are defective or mutated. Such mutations can cause genes to function improperly, potentially giving rise to cancer. While most mutations occur during a person's lifetime, some people inherit mutations that give them an above-normal risk of developing cancer. "We have done a large number of genetic analyses for inherited mutations that put some people at risk for colon, breast, and other cancers," Fox says. "The lab results are used in research studies that explore the usefulness of genetic testing in cancer diagnosis, prognosis, and treatment."
The laboratory is capable of determining not only whether a particular gene is mutated, but also where it is mutated. "Mutations in different parts of the same gene can have different biological consequences," says the lab's medical and scientific director, Alan D'Andrea, M.D. "The lab supports researchers who are working to correlate specific mutations with the degree of aggressiveness of different types of cancers."
The implications of this work for patients are easy to imagine. "We know that mutations in the BRCA1 or BRCA2 genes put women at risk for breast and ovarian cancer," D'Andrea remarks. "But suppose we could refine our knowledge to the point where we know that one type of mutation is associated with aggressive disease, while another is associated with a slower-growing form. That would give us the ability to screen women for the type of inherited breast cancer they're likely to develop and make treatment decisions accordingly."
