Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.

doi:10.1136/jmg-2022-108929

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Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.

Journal of medical genetics - 1 Jul 2023

Carrasco Estela, López-Fernández Adrià, Codina-Sola Marta, Valenzuela Irene, Cueto-González A M, Villacampa Guillermo, Navarro Victor, Torres-Esquius Sara, Palau Dolors, Cruellas Mara, Torres Maite, Perez-Dueñas Belen, Abulí Anna, Diez Orland, Sábado-Álvarez Constantino, García-Arumí Elena, Tizzano Eduardo F, Moreno Lucas, Balmaña Judith

Abstract excerpt

BACKGROUND/OBJECTIVES: Exome sequencing may identify pathogenic variants unrelated with the purpose of the analysis. We investigated the frequency of secondary and incidental findings (SF/IF) in cancer susceptibility genes (CSG), their clinical actionability and the psychological impact in individuals with an SF/IF (cases) compared with individuals tested due to their cancer history (controls). METHODS: This...

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Identifiers

PMID: 36446584
DOI: 10.1136/jmg-2022-108929

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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