A large new study headed by experts from the Huntsman Cancer Institute at the University of Utah and Emory University sheds insight on the genetic makeup of ovarian cancer in Black women. The study, which focused on high-grade serous ovarian cancer—the most frequent type—used cutting-edge tumour sequencing technology to analyse tumour features in individuals aged 20–79.

The study sought to examine whether the alterations discovered in black women's tumours were similar to those seen in other ethnic groups. The findings found that, for the most part, Black women have substantially identical tumour mutations as other previously investigated groups. However, the researchers uncovered a few crucial discrepancies that could have significant clinical ramifications.

"Our analysis shows the importance of researching different types of populations," says Jen Doherty, MS, PhD, co-principal investigator of the study and co-leader of the Cancer Control and Population Sciences Program at Huntsman Cancer Institute, as well as professor of population health sciences at the University of Utah. "The molecular features that we discover in one patient group will allow us to find potential targets for drug therapies that will work for all patients and improve ovarian cancer health care for everyone."

According to the National Cancer Institute, ovarian cancer is frequently discovered late due to a lack of distinct symptoms and an ineffective screening technique. We expect the disease to claim the lives of more than 12,000 women by 2024. Extensive federal and commercial research has been conducted to better understand the causes and treatment options for this devastating disease.

The study's focus on a previously understudied demographic was remarkable. The study's first author, molecular epidemiologist Kayleigh Lawson-Michod, MPH, PhD, notes that previous characterisations or assessments of mutations in ovarian malignancies were done in largely white populations. This effort was remarkable since it was the first large-scale study to characterise tumour mutations in Black people with high-grade serous ovarian cancer. The researchers contrasted their findings with those from The Cancer Genome Atlas (TCGA), which primarily comprised samples from white people.

The study also looked at survival differences. Despite having basically similar genetic alterations, Black people had a 43% five-year overall survival rate for ovarian cancer, compared to 51% for all American women. "The characterisations of these groupings revealed similar alterations. However, Black people had a 43% five-year overall survival rate for ovarian cancer, compared to 51% for all American women," says Doherty. "Our research shows that this discrepancy is unlikely to be explained by the genetic makeup of the tumours themselves." 

Despite the overall similarities, the researchers discovered a few major distinctions. KRAS mutations were more prevalent in Black women than in white people. "KRAS did not show up as a significant mutation in the high-grade serous ovarian cancer patients from TCGA," Lawson-Michod said. Furthermore, black women had a greater incidence of homologous recombination deficits (HRD), which makes tumours more susceptible to PARP inhibitors, a type of targeted therapy. "HRD status is associated with better survival, but Black women have higher mortality rates from this disease than other women," states Joellen Schildkraut, PhD, MPH, co-principal investigator and professor of epidemiology at Emory University.

These findings, published in Cancer Research, underscore the need for different population studies to improve ovarian cancer treatment regimens.