Dr. Janet D. Rowley, a physician who four decades ago became the first person to show a conclusive link between certain genetic abnormalities and certain cancers, died on Tuesday at her home in Chicago. She was 88.

The death, from complications of ovarian cancer, was announced by the University of Chicago, where Dr. Rowley was the Blum-Riese distinguished service professor of medicine, molecular genetics and cell biology, and human genetics.

Dr. Rowley, described by The New York Times in 2011 as “the matriarch of modern cancer genetics,” made her pathbreaking discovery in 1972, when she found that a particular type of leukemia could result when two chromosomes abnormally exchanged genetic material.

Her findings helped establish cancer as a genetic disease. They also made possible the development of targeted drug therapies for specific cancers.