CHICAGO – Oct. 19, 2023 – People who test positive for BRCA1/2 genetic variants may be at risk for other types of cancer beyond those previously known, according to a study being presented at the National Society of Genetic Counselors (NSGC) 42nd Annual Conference.
People with pathogenic/likely pathogenic (P/LP) BRCA1 or BRCA2 (BRCA1/2) variants are known to be at increased risk for “core” cancers: breast, ovarian, prostate, pancreatic, and melanoma. The new research found people with P/LP BRCA1/2 variants also had significantly higher rates of endometrial, esophageal, gastric, testicular and urinary tract cancers compared to those who did not have such variants.
The research supports findings from similar studies that identified increased rates of endometrial, esophageal and gastric cancer in people with P/LP BRCA1/2 variants, as well as unearthing new findings that there are also increased rates of testicular and urinary tract cancers.
“Right now, genetic counselors typically recommend BRCA1/2 testing and insurance companies typically cover the cost if patients meet specific criteria, for example if they or a family member has had one of the core cancers,” said Nataly Abrams, MS, CGC, lead author of the study and a genetic counselor at the University of Miami Miller School of Medicine. “Our research found patients with P/LP BRCA1/2 variants have a higher rates of certain non-core cancers, suggesting we may need to revisit testing and management criteria to better identify and care for patients and their families.”
The researchers gathered genomic and health data from Geisinger’s MyCode Community Health Initiative, an electronic health record-linked biorepository. The study included 742 patients with P/LP BRCA1/2 variants identified and disclosed via MyCode and 165,046 patients who did not have such variants. They looked at which patients had a history of various cancers and compared the results between the two groups. They found significantly higher rates of certain cancers between those with P/LP BRCA1/2 variants and those without such variants: endometrial (3.5% vs. 1.9%), esophageal (0.7% vs. 0.2%), gastric (1.1% vs. 0.2%), testicular (1.5% vs. 0.3%) and urinary tract (2.3% vs. 1.1%). Among patients with gastric cancer, those with P/LP BRCA1/2 variants were diagnosed at a younger age (median of 62.2 years old vs. 68).
“We are continually learning about these genes,” Abrams said. “Patients should check in with their health care providers periodically to explore updates related to their genetic results. For those who have not had genetic testing and have questions about their health and risks, they should advocate for themselves or affected family members to see a genetic counselor and undergo genetic testing.”
Note to editors: Media interested in viewing study abstracts, interviewing authors and/or attending sessions at the NSGC Annual Conference can contact NSGC’s PR team at 630-344-2009 or NSGCPR@pcipr.com.
About the National Society of Genetic Counselors
NSGC is the leading voice, authority and advocate for the genetic counseling profession. Membership represents more than 5,000 masters-level health professionals, who are committed to ensuring that the public has access to genetic counseling and genetic testing. For more information, visit www.nsgc.org.