Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
Estela CarrascoAdrià López-FernándezMarta Codina-SolaIrene ValenzuelaA M Cueto-GonzálezGuillermo VillacampaVictor NavarroSara Torres-EsquiusDolors PalauMara CruellasMaite TorresBelen Perez-DueñasAnna AbulíOrland DiezConstantino Sábado-ÁlvarezElena García-ArumíEduardo F TizzanoLucas MorenoJudith BalmañaPublished in: Journal of medical genetics (2022)
SF/IF in CSG were identified in 2.1% of patients. Despite a numerically higher psychological impact, the identification of SF/IF allowed early detection and cancer prevention in families without cancer history.