Cancer

A cancer cell can also harbor thousands of structural variants — large-scale losses (deletions), duplications, swaps (translocations), and other changes — in its DNA. Matthew Meyerson and Rameen Beroukhim of the ӳý Cancer Program and Dana-Farber Cancer Institute discuss the challenges to studying structural variations in cancer, why it is important to do so, and what researchers are learning that could benefit patients today and in the future.

The study of structural variation — large-scale changes in DNA that can, in some cases, refashion entire chromosomes — in the genomic era has lagged behind that of sequence variation. But there’s a growing appreciation of how important structural variants are to human biology and disease. What makes these variants more challenging to study, and what is being done to overcome those challenges?

Corrie Painter, associate director of operations and scientific outreach at the ӳý and one of the creators of The Metastatic Breast Cancer Project, and Eliezer Van Allen, an oncologist at Dana Farber Cancer Institute and an associate member at ӳý, discuss patient engagement, which is critical for advancing our understanding of both common and rare cancers and empowering people to get in the driver's seat of clinical research.