Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories

• In a large cohort of individuals at risk for a hereditary cancer syndrome, 6.7% were identified with one or more pathogenic variants.• The largest proportion of findings were in BRCA1 and BRCA2 (42.2%), followed by additional breast cancer-risk genes (32.9%), the Lynch syndrome genes (13.2%), and ovarian cancer-risk genes (6.8%).• Depending on the gene group, 1.3%-56.8% of clinically significant findings were “unexpected” in the context of the individual's personal and family cancer history and would likely have been missed by single-syndrome or single-cancer testing.

Source: Cancer Genetics and Cytogenetics - September 25, 2017 Category: Genetics & Stem Cells Authors: Eric T. Rosenthal, Ryan Bernhisel, Krystal Brown, John Kidd, Susan Manley Source Type: research