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Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.

Molecular genetics and genomics : MGG - 1 May 2022

Molina-Zayas María, Garrido-Navas Carmen, García-Puche Jose Luis, Barwell Julian, Pedrinaci Susana, Atienza Margarita Martínez, García-Linares Susana, de Haro-Muñoz Tomás, Lorente Jose Antonio, Serrano M Jose, Poyatos-Andújar Antonio

Abstract excerpt

The aim of this study was to assess the prevalence of germline variants in cancer-predisposing genes by either targeted (BRCA1/2) or multigene NGS panel in a high-risk Hereditary Breast and Ovarian Cancer (HBOC) cohort. Samples from 824 Caucasian probands were retrospectively collected and the impact of genetic diagnosis and genetic variants epidemiology in this cohort was evaluated. Performance of risk-reducing...

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Identifiers

PMID: 35451682
DOI: 10.1007/s00438-022-01891-5
PMCID: PMC9130174

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