Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2 -related schwannomatosis.
Miriam Jane SmithCristina Perez-BecerrilMwee van der MeerGeorge Joseph BurghelSarah J WallerMegan CarneySancha BunstoneKatherine FryerNaomi L BowersClaire L HartleyPhilip T SmithScott A RutherfordSimon R FreemanSimon K W LloydOmar N PathmanabanAndrew Thomas KingDorothy HallidayChris DuffD Gareth EvansPublished in: Journal of medical genetics (2024)
variant was detected in tumours from 103 people, it is likely that further cases of mosaicism would be detected if more people had additional tumours available for analysis. In addition, if further evidence becomes available to show that the VUSs are pathogenic, this would significantly increase the proportion of people with a genetic diagnosis. Our results indicate the importance of comprehensive genetic testing and improved variant classification.