March 13, 2025 Story by: Editor
A comprehensive genomic analysis of ovarian cancer tumors, conducted by researchers from the Huntsman Cancer Institute at the University of Utah (the U) and Emory University, has revealed that Black women exhibit nearly identical genetic mutations to other previously studied groups. However, scientists also identified some notable differences that may have clinical significance.
The findings have been published in Cancer Research.
“Our analysis shows the importance of researching different types of populations,” stated Jen Doherty, MS, Ph.D., co-principal investigator of the study and co-leader of the Cancer Control and Population Sciences Program at Huntsman Cancer Institute, as well as a professor of population health sciences at the U.
“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.”
Ovarian cancer is frequently diagnosed in its later stages due to the absence of distinct symptoms or an effective screening method, according to the National Cancer Institute. In 2024, the disease is estimated to claim the lives of over 12,000 women. Substantial federal and private research efforts have been dedicated to uncovering its causes and identifying the most effective treatments.
The study examined patients aged 20 to 79 who had been diagnosed with high-grade serous ovarian cancer, the most prevalent form of the disease. Advanced tumor sequencing techniques were utilized to analyze tumor characteristics.
Molecular epidemiologist Kayleigh Lawson-Michod, MPH, Ph.D., who recently graduated from the U’s Population Health Sciences doctoral program, served as the study’s lead author.
“Prior characterizations, or analyses, of mutations in ovarian cancers were done in predominantly white populations,” Lawson-Michod explained. “This project was unique in that it was the first large study to characterize tumor mutations in Black individuals with high-grade serous ovarian cancer.”
The research team compared their findings with data from The Cancer Genome Atlas (TCGA), a major genomics database initiated by the National Cancer Institute that profiles the genetic makeup of 33 different cancer types. The majority of high-grade serous ovarian cancer samples analyzed in TCGA came from white individuals.
Seeking to determine whether tumor variations could account for survival differences among certain populations, the researchers found that overall genetic mutations were similar.
“The characterizations between these groups showed similar mutations. But Black individuals have a 43% five-year overall survival rate for ovarian cancer, compared to 51% for all American women,” noted Doherty. “Our research shows that this discrepancy is unlikely to be explained by the genetic makeup of the tumors themselves.”
Nevertheless, the study did identify a few key distinctions.
The analysis revealed that KRAS mutations were more prevalent in Black individuals compared to white individuals. KRAS is a gene mutation linked to cancer development.
“KRAS did not show up as a significant mutation in the high-grade serous ovarian cancer patients from TCGA,” Lawson-Michod pointed out. “However, just because KRAS may be more prevalent in Black individuals does not mean it is not present in all populations with this cancer type. If validated, this could be a missed treatment opportunity.”
Additionally, the study found that Black women had a higher prevalence of homologous recombination deficiency (HRD), a condition that impairs a cell’s ability to repair damaged DNA. Tumors with HRD tend to respond well to PARP inhibitors, a form of targeted therapy.
“HRD status is associated with better survival, but Black women have higher mortality rates from this disease than other women,” explained Joellen Schildkraut, Ph.D., MPH, co-principal investigator of the study, a member of the Cancer Prevention and Control Research Program at Winship Cancer Institute of Emory University, and a professor of epidemiology at Emory University.
“This characterization of ovarian cancer in an understudied population such as this can hopefully impact clinical decision-making for all women with ovarian cancer and inform targeted treatment for this disease.”
Source: Medical Xpress
