Researchers at the Barbara Ann Karmanos Cancer Institute took a deep dive into the significance of breast cancer screening and the recommendations for women who carry the pathogenic breast cancer gene- (BRCA) 1 and 2 variants. They concluded that there was 83% adherence to the National Comprehensive Cancer Network (NCCN) screening guidelines for women screened at the Women’s Wellness Clinic at the Karmanos Cancer Center in Detroit.
The research study titled "Uptake of Screening and Risk-Reducing Recommendations Among Women with Hereditary Breast and Ovarian Cancer Syndrome Due to Pathogenic BRCA1/2 Variants Evaluated at a Large Urban Comprehensive Cancer Center" was published in Breast Cancer Research and Treatment in February 2024. It highlights the relatively high adherence to screening guidelines of receiving mammography with tomosynthesis alternating with breast MRI with contrast, risk-reducing mastectomy (RRM), and risk-reducing salpingo-oophorectomy (RRSO). Participants in the study were a cohort of women diagnosed with hereditary breast and ovarian cancer syndrome (HBOC) at Karmanos Cancer Center in Detroit, which is designated by the National Cancer Institute as a comprehensive cancer center. Located in Midtown Detroit and serving a majority urban population, Karmanos screens thousands of women a year for breast cancer.
BRCA1 and 2 carriers face a 72% cumulative lifetime risk for breast cancer and a 44% cumulative lifetime risk for ovarian cancer, emphasizing the importance of risk reduction strategies in this population. Of 129 women with pathogenic BRCA1 and 2 variants, 95 (74%) underwent RRSO, and 77 (60%) had RRM. Additionally, 107 (83%) were considered adherent to NCCN guidelines. Factors such as previous history of breast or ovarian cancer and increasing age were associated with higher adherence to recommendations. Women who underwent RRM were three times more likely to undergo RRSO. The study also revealed a high disclosure rate of genetic test results to family members, leading to cascade testing and identifying a median of one relative with a pathogenic variant.
The study reflects changes in genetic screening adoption over the years, with a higher rate of risk-reducing mastectomies before June 2013. The authors attribute this to the increased availability of gene panel testing after 2013 and increased comfort in breast cancer screening practices in recent years, resulting in differences in adopting risk-reducing recommendations.
"These results are reassuring and reflect the strength of recommendations provided by genetic counselors, personalized genetic counseling practices, and individualized letters documenting genetic test results and NCCN recommendations sent to all patients,” said Hadeel Assad, M.D., medical oncologist, member of the Breast Cancer Multidisciplinary Team (MDT) and member of the Molecular Therapeutics and Population Studies and Disparities (PSDR) Research Programs.
The study reported no racial or ethnic differences in prevention and screening practices among women with HBOC. However, the authors note that the study was underpowered for this analysis.
However, the study also raises concerns regarding women who have not undergone RRSO, with less than half adequately fulfilling NCCN screening recommendations for ovarian cancer. This highlights the challenge of maintaining recommendations for screening and risk-reducing surgery over time.
"Our results underscore the need for ongoing patient and physician education regarding the potential benefits of screening and risk-reducing surgery for ovarian cancer prevention," concluded Dr. Assad. “This investigation represents an important contribution to understanding cancer screening and prevention among women with HBOC while highlighting the role of cancer centers in promoting elevated uptake of screening and risk reduction recommendations in high-risk populations.”
The study further analyzes associations between family history of cancer, chemoprevention for high breast cancer risk, disclosure of genetic diagnosis to family members, sociodemographic factors influencing cancer screening uptake, and cancer-related worry in women undergoing risk reduction surgeries.
Karmanos co-authors on this study include Maria Levitin, M.D., fellow at Karmanos; Nancie Petrucelli, MS, LCGC, senior genetic counselor, Director of the Karmanos Cancer Genetic Counseling Service, and PSDR member; Mark Manning, Ph.D., PSDR member; Hayley Thompson, Ph.D., PSDR member; Wei Chen, Ph.D., Molecular Imaging Research Program member; Hyejeong Jang, M.S., biostatistician and Biostatics and Bioinformatics Core member; and Michael Simon, M.D., MPH, medical oncologist, Breast Cancer MDT co-leader, Karmanos Cancer Genetic Counseling Service medical director, and PSDR member.
Read the study here.