Mayo Clinic study uncovers genetic cancer risks in 550 patients
Current screening protocols fail to catch a notable number of people carrying genetic mutations associated with hereditary breast and ovarian cancer syndrome and Lynch syndrome, which increase the risk of developing certain cancers. This issue is particularly pronounced among underrepresented minorities.
Research findings published in JCO Precision Oncology, based on genetic screenings of over 44,000 study participants from diverse backgrounds, reveal that 1.24% were carriers of hereditary mutations. Shockingly, half of these individuals were unaware of their genetic risk, and 40% did not meet existing clinical guidelines for genetic testing.
Lead author Niloy Jewel Samadder, M.D., a Mayo Clinic gastroenterologist and cancer geneticist, emphasizes the importance of early detection of genetic markers for these conditions. Identifying high-risk individuals can lead to proactive screenings and targeted therapies, potentially saving lives.
Hereditary breast and ovarian cancer syndrome, linked to BRCA1 and BRCA2 gene mutations, poses significant risks. Mutations in BRCA1 can lead to a 60% lifetime risk of developing breast cancer and a 40% risk of ovarian cancer. BRCA2 mutations increase breast cancer risk to 50% and ovarian cancer risk to 20%, with additional risks for other cancers.
Lynch syndrome, associated with an 80% lifetime risk of colorectal cancer and a 50% risk of uterine/endometrial cancer, highlights the importance of genetic screening.
Disparities in how underrepresented minorities meet genetic screening guidelines compared to other groups were also observed. Dr. Samadder notes that existing guidelines may inadvertently introduce biases affecting who qualifies for testing and insurance coverage, leading to disparities in cancer prevention.
The Tapestry project, part of the Mayo Clinic Center for Individualized Medicine, has sequenced over 100,000 patient exomes, integrating results into electronic health records. This initiative aims to advance precision medicine by identifying individuals at risk for cancer predisposition syndromes.
