Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Lisa R SussweinMegan L MarshallRachel NusbaumKristen J Vogel PostulaScott M WeissmanLauren YackowskiErica M VaccariJeffrey BissonnetteJessica K BookerM Laura CremonaFederica GibelliniPatricia D MurphyDaniel E Pineda-AlvarezGuido D PollevickZhixiong XuGabi RichardSherri BaleRachel T KleinKathleen S HruskaWendy K ChungPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
The high frequency of positive results in a wide range of cancer genes, including those of high penetrance and with clinical care guidelines, underscores both the genetic heterogeneity of hereditary cancer and the usefulness of multigene panels over genetic tests of one or two genes.Genet Med 18 8, 823-832.