In this work we analyzed the frequency, actionability and psychological impact of disclosing pathogenic variants in cancer susceptibility genes (CSG) as a secondary or incidental finding (SF/IF) mainly in pediatric patients. In a total of 533 exomes examined for non-cancer indications, we found a pathogenic variant in a CSG as a SF/IF in 2%. Around 80% of the families did not have a cancer family history. Among those eligible for cancer surveillance, we detected a tumour in 20% in the first set of investigations.Regarding the psychological impact, we found higher scores in the MICRA scale among carriers of a CSG as a SF/IF compared to carriers of a CSG due to familial cancer history. Genetic counseling is key in individuals undergoing exome sequencing in order to cope with medical and psychological implications of their results (https://jmg.bmj.com/content/early/2022/11/28/jmg-2022-108929 )
Estela Carrasco (the girl with brown trousers and boots) and some coathors
