It almost sounds like a made up word, but the spliceosome is a very real and very complex molecular machine in the nucleus of cells, and it’s at the center of some exciting new Kimmel Cancer Center research.

Its job is to chop up genes so that proteins can be transcribed into cellular actions. If a spliceosome gene is mutated in a cancer, it sometimes leads to more gene mutations. “These mutations may make cells look different and could attract T cells, so we are exploring spliceosome mutations as a marker for response to immunotherapy,” says breast cancer researcher Natasha Hunter.

Spliceosome mutations are rare, occurring in a small fraction of cancers, including about four percent of breast cancers and about 19 percent of melanomas. Studies led by Brian Dalton revealed them as a prognosis indicator for patients with hematologic malignancies, but this new research is one of the first attempts to use them as a therapeutic target.

In conjunction with the GAITWAY Tumor Board, Hunter is leading a new study that will use website-based and social media outreach to patients. Cancer patients will be able to request a kit they provide to their doctor to collect a plasma sample. The samples are returned to the Kimmel Cancer Center and become part of a biorespository—a library of tumor, tissue and blood samples—for cancer research. Hunter hopes the samples will help them find rare mutations in cancer that might be good targets for treatment.