In new guidelines, the American Society of Clinical Oncology recommends offering germline genetic testing for BRCA1, BRCA2, and other ovarian cancer susceptibility genes to all women diagnosed with epithelial ovarian cancer, regardless of their clinical features or family history.
Testing should be offered at diagnosis or as soon as possible after that,of the Dana-Farber Cancer Institute in Boston, and colleagues wrote in the .
For patients who do not carry a germline pathogenic or likely pathogenic BRCA1/2 variant, the guidelines recommend offering somatic tumor testing for BRCA1/2 pathogenic or likely pathogenic variants. This testing can be offered at the time of disease recurrence after up-front therapy.
The guidelines also recommend somatic tumor testing for mismatch repair deficiency in patients diagnosed with clear cell, endometrioid, or mucinous ovarian cancer. This testing may be offered to patients with other histologic types of epithelial ovarian cancer as well.
Genetic testing, as well as genetic risk evaluation and counseling, should be offered to first- or second-degree blood relatives of a patient with ovarian cancer and a known germline pathogenic cancer susceptibility gene variant, according to the guidelines.
According to the guidelines, genetic evaluations should be conducted in cooperation with other health care providers who are “familiar with the diagnosis and management of hereditary cancer syndromes to determine the most appropriate testing strategy and discuss implications of the findings.”
Patients with identified germline or somatic pathogenic or likely pathogenic BRCA1/2 variants should receive treatments approved for them by the Food and Drug Administration, according to the guidelines. The authors note that patients with these variants have responded well to FDA-approved poly (ADP-ribose) polymerase inhibitors, including niraparib (Zejula), olaparib (Lynparza), and rucaparib (Rubraca).
The guidelines also state that mismatch repair deficiency qualifies for FDA-approved treatment, so patients with recurrent epithelial ovarian cancer and mismatch repair deficiency should receive FDA-approved treatments under their labeled indications.
The guidelines note that clinical decisions should not be based on a variant of uncertain significance. When a patient has such a variant, “clinical features and family history should inform clinical decision making,” according to the guidelines.
Dr. Konstantinopoulos and colleagues formulated the guidelines after reviewing data from 19 studies, including 6 meta-analyses; 11 randomized, controlled trials; and 2 observational studies.
The authors reported relationships with a range of pharmaceutical companies, including those that market drugs for epithelial ovarian cancer.