Impact of mutations in cancer-predisposing genes on long-term survival of patients with ovarian cancer

June 23, 2022

Ovarian cancer is the fifth leading cause of cancer deaths among women in Canada. Several clinical and tumour factors can impact survival from this disease, including the age at diagnosis, the stage of the cancer, the tumor’s anatomy and the timing and route of chemotherapy. Genetic testing at the time of diagnosis is now recommended for all women with epithelial ovarian cancer in several countries and the number of genes tested varies depending on the panel.

headshot of Dr. Joanne Kotsopoulos

Dr. Joanne Kotsopoulos, scientist at Women’s College Research Institute (WCRI), with her co-collaborators, conducted a study published in the British Journal of Cancer, which reports that among women with ovarian cancer, those with an inherited BRCA1 or BRCA2 mutation experience a short-term survival advantage. In the study, the team evaluated the impact of germline mutations in 12 cancer-predisposing genes on long-term survival in 1,422 unselected women with epithelial ovarian cancer diagnosed in Ontario.

The most important predictor of long-term survival was no residual disease after surgery. BRCA mutation status was not predictive of long-term survival while those with mismatch repair (MMR) mutations had excellent survival. This study is a step in the right direction, but larger studies on PALB2 carriers are still needed.

To learn more about breast and ovarian cancer, visit our WCRI and Peter Gilgan web pages.