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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.
Researchers led by MD Anderson’s Karen Lu want to know the most efficient genetic counseling strategy as more people are getting screened for cancer risk genes.
Researchers analyzed germline mutations in 256 kidney cancer patients and found mutations that would have been missed, including therapeutically relevant ones.
A study of more than 5,000 breast cancer patients found that multi-gene sequencing has rapidly replaced BRCA1/2-only tests, resulting in better pathogenic variant detection but also higher VUS rates.