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The data showed that population screening for BRCA mutations in Ashkenazi Jewish population doesn't diminish quality of life or cause psychological distress.
The team analyzed multigene panel test data from Ambry Genetics for 165,000 individuals, focusing on hereditary cancer risk related to 32 genes in six cancer types.
Investigators used gene panel testing to assess hereditary breast and ovarian cancer risk in African American women with breast cancer, uncovering potential gaps in test access.
Investigators pooled older and new data from the Prospective Lynch Syndrome Database, tracking outcomes for different mutations across age and gender groups.
By profiling hereditary risk variants in women with breast cancer, researchers hope to lay the foundation for future genetic testing programs in the Caribbean country.
At the ACMG meeting, a Children's Hospital of Philadelphia researcher described finding relatively high rates of hereditary cancer variants in tumor sequence data.
Research presented at ACMG by Invitae suggests that clinically actionable variants in cancer patients are missed by germline testing that is not done with expanded panels.
The American Society of Breast Surgeons updated consensus guidelines to recommend multigene panel testing for patients with cancer, including those who were tested many years ago.
Researchers found cancer risk variants in individuals who did not meet criteria for testing, and testing led to early cancer detection in several cases.
With panel sequence data from Ambry's clinical lab and a TNBC research consortium, researchers saw risky hereditary variants in BRCA1/2 and other genes.