Detection of Germline Mutations in a Cohort of 250 Relatives of Mutation Carriers in Multigene Panel: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2 .
Sara Di RadoRoberta GiansanteMichela CicirelliLucrezia PilenziAnastasia Dell'EliceFederico AnaclerioMartina RimoldiAntonino GrassadoniaSimona GrossiNicole CanalePatrizia BalleriniLiborio StuppiaIvana AntonucciPublished in: Cancers (2023)
genes would have only resulted in a missed diagnosis in a number of cases and in the lack of prevention of the disease in a considerable percentage of healthy carriers with a genetic mutation (14%).