The average age of the patients was 60 years, 52% were women, 89% were white. Hispanics and Asians made up just 1% each of the total. Most of the cancers were stage II (26%) or stage III (40%).
Tumor sequencing identified all of the 46 confirmed cases of Lynch syndrome and turned up 12 more in the larger group, the researchers found.
Sensitivity of tumor sequencing was better (100%; 95% confidence interval, 93.8%-100%) than immunohistochemical testing plus BRAF (89.7%; 95% CI, 78.8%-96.1%; P = .04) and microsatellite instability testing plus BRAF (91.4%; 95% CI, 81.0%-97.1%; P = .07), and its specificity was equal to the other approaches, Ms. Pearlman and her associates reported.
Researchers also reported that tumor sequencing identified nearly 300 cases of tumors with genetic mutations that could impact therapy.