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 Antonucci

Published 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%).

Keyphrases

genome wide
copy number
bioinformatics analysis
genome wide identification
dna methylation
genome wide analysis
loop mediated isothermal amplification
gene expression
oxidative stress