Study Finds Germline Ovarian Cancer Mutations Occur Equally in Black and White Patients

Research News

A recent study has shed more light on the demographics of hereditary ovarian cancer, and provides further data to suggest an urgent need for increased genetic counseling for potentially high-risk Black women, as well as increased genetic testing in Black ovarian cancer patients. 

The study, which took place over the course of 20 years and was recently published in the journal Gynecologic Oncology, was funded in part by OCRA, along with the Department of Defense Ovarian Cancer Research Program, National Cancer Institute, and Bears Care, the charitable beneficiary of the Chicago Bears football club.

Seeking to determine if there are race-related differences in hereditary risk of ovarian carcinoma, researchers focused on a cohort of 51 Black patients with invasive epithelial, fallopian tube or primary peritoneal carcinomas. These patients underwent BROCA DNA sequencing to identify germline mutations (genetic variations that are inherited directly from one or both parents) such as BRCA1 and BRCA2, which are known to increase risk of ovarian cancer.

Through this genetic testing, researchers identified that 25.5% of participants had pathogenic germline mutations in ovarian cancer susceptibility genes, and of those, all had high-grade carcinoma. BRCA1 (13.7%) and BRCA2 (7.8%) mutations were the most common pathogenic germline mutations identified, and the study also found one instance of RAD51D mutation. 

These numbers align with numerous prior studies of white ovarian cancer patients, and fill a gap in our understanding of who is at risk of hereditary ovarian cancer by demonstrating that Black individuals experience germline mutations, including BRCA1 and BRCA2, at the same frequency as their white counterparts.

Researchers also tracked progression-free intervals (PFI) and overall survival (OS) for the cohorts with and without germline mutations. Among those with germline mutations, median PFI was 29.7 months, compared with 13.2 months for those without mutations. Median OS for those with germline mutations was 60 months, versus 31 months for those without.

These results are especially important when viewed along with past studies that have shown that Black individuals are less likely than white individuals to receive clinical referrals for genetic counseling, and are less likely to undergo genetic testing which could identify targetable genetic mutations. Genetic counseling and testing are important tools for reducing risk of ovarian cancer, as those who undergo testing may identify relevant inherited mutations and take preventative steps. 

Genetic testing is also important after diagnosis. Decades of research have resulted in more effective treatments for ovarian cancer patients with BRCA1, BRCA2 and other genetic mutations, and these treatments can lead to increased progression-free intervals and overall survival. The presence of an inherited mutation can also indicate the need for healthy family members to be tested, to see if they too carry the mutation.

Results from this study, which further demonstrate that there is no difference in hereditary risk of ovarian cancer, point to a clear need for increased genetic counseling and testing for the Black population, and have the potential to save lives.

Read the abstract of “Germline mutations in Black patients with ovarian, fallopian tube and primary peritoneal carcinomas” in PubMed.

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