May 21, 2024

Researchers evaluate uptake of screening, risk-reducing recommendations Among BRCA1 and BRCA2 carriers at Karmanos Cancer Center

Empower health

Researchers at the Wayne State University School of Medicine and the Barbara Ann Karmanos Cancer Institute found that women who carry the pathogenic breast cancer gene BRCA 1 and 2 variants screened at the Women’s Wellness Clinic at the Karmanos Cancer Center in Detroit demonstrated 83% adherence to the National Comprehensive Cancer Network screening guidelines.

The study, “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. It highlights the relatively high adherence to screening guidelines of receiving mammography with tomosynthesis alternating with breast MRI with contrast, risk-reducing mastectomy, or RRM, and risk-reducing salpingo-oophorectomy, or RRSO. Study participants were a cohort of women diagnosed with hereditary breast and ovarian cancer syndrome at Karmanos Cancer Center in Detroit.

Hadeel Assad, M.D.

BRCA1 and 2 carriers face a 72% cumulative lifetime risk for breast cancer and a 44% risk for ovarian cancer. 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, with a higher rate of risk-reducing mastectomies before June 2013. The authors attributed this to the increased availability of gene panel testing after 2013 and increased comfort in breast cancer screening practices in recent years.

“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., WSU assistant professor of Oncology and member of the Karmanos Breast Cancer Multidisciplinary Team and the Molecular Therapeutics and Population Studies and Disparities Research Programs.

The study reported no racial or ethnic differences in prevention and screening practices, but the authors noted the study was underpowered for such analysis.

The study 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,” Dr. Assad said. “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.

Originallly published here.

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