Dr. O'Reilly on the Role of Germline Testing in Pancreatic Cancer

Eileen O'Reilly, MD, Winthrop Rockefeller Endowed Chair in Medical Oncology, co-director, Medical Initiatives, David M. Rubenstein Center for Pancreatic Cancer Research, section head, Hepatopancreaticobilary and Neuroendocrine Cancers, and medical oncologist, Memorial Sloan Kettering Cancer Center, discusses germline testing in pancreatic cancer.

Germline testing should be done in all newly diagnosed patients with pancreatic cancer, recommends O’Reilly. There is about a 10% chance that a pathogenic germline mutation will be found that is significant to the patient or family, adds O’Reilly. This can lead to cascade testing family members who may be at risk for pancreatic cancer or other malignancies as well as identify a familial genetic syndrome.

With the advent of understanding the role of platinum in a group of patients with homologous repair deficiency signal, patients with germline BRCA1/2, PALB2, or other selected genes should receive platinum up front with the option of adding a PARP inhibitor, says O’Reilly.

Selective germline testing leads to testing only patients who are young, have a family history of cancer, have a personal history of cancer, or are of a specific ethnicity. By doing this, about 40% of patients with mutations are missed; this is why early germline testing is recommended for all patients upon diagnosis, concludes O’Reilly.