Current screening methods are not identifying a significant number of individuals with genetic mutations linked to hereditary breast and ovarian cancer syndrome and Lynch syndrome, which elevate the risk of certain cancers, as per new findings. This issue is especially prominent among minority groups.
A recent study, detailed in JCO Precision Oncology, analyzed genetic screenings of over 44,000 participants from various backgrounds to uncover these research insights.
Conducted by the Mayo Clinic Center for Individualized Medicine Tapestry project, researchers delved into the exomes, the gene regions that encode proteins, as they are where most disease-causing mutations are situated. Out of the participants, 550 individuals (1.24%) were identified as carriers of the hereditary mutations.
Notably, 50% of these individuals were unaware of their genetic predisposition, and 40% did not meet the current genetic testing criteria.
Lead author Dr. Niloy Jewel Samadder, a gastroenterologist and cancer geneticist at the Mayo Clinic, emphasized the study’s significance, stating, “Current guidelines for genetic screenings are failing to identify many individuals at high cancer risk. Detecting genetic markers early on can facilitate proactive screenings and targeted treatments, potentially saving lives.”
Hereditary breast and ovarian cancer syndrome is linked to BRCA1 and BRCA2 gene mutations. BRCA1 mutations carry a 60% lifetime risk of breast cancer and a 40% risk of ovarian cancer, along with other cancers. BRCA2 mutations elevate the risk of breast cancer to 50% and ovarian cancer to 20%, with added risks for prostate and pancreatic cancers in males.
Lynch syndrome is connected to an 80% lifetime risk of colorectal cancer and a 50% risk of uterine/endometrial cancer.
The study also revealed differences in how minority participants aligned with genetic screening criteria compared to other groups.
Dr. Samadder highlighted, “The existing testing guidelines inadvertently introduce biases that impact who is eligible for testing and receives insurance coverage, leading to inequalities in cancer prevention. Our findings stress the importance of expanding genetic screening to identify individuals at risk for these cancer predisposition syndromes.”
Advancing precision medicine with Tapestry
The Tapestry project has sequenced exomes of over 100,000 patients, integrating these outcomes into their electronic health records. This not only customizes patient care but also establishes a thorough database for further genetic investigations.
Tapestry’s overarching goal is to promote personalized medicine and customize prevention and treatment approaches for individuals, paving the way for targeted healthcare interventions for all.
Refer to the study for a full list of authors, disclosures, and funding details.
