Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.

doi:10.1016/j.ejmg.2022.104468

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Article

Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance.

European journal of medical genetics - 1 Apr 2022

Castillo-Guardiola Verónica, Rosado-Jiménez Laura, Sarabia-Meseguer María Desamparados, Marín-Vera Miguel, Macías-Cerrolaza José Antonio, García-Hernández Rosario, Zafra-Poves Marta, Sánchez-Henarejos Pilar, Moreno-Locubiche María Ángeles, Cuevas-Tortosa Encarnación, Arnaldos-Carrillo María, Ayala de la Peña Francisco, Alonso-Romero José Luis, Noguera-Velasco José Antonio, Ruiz-Espejo Francisco

Abstract excerpt

INTRODUCTION: BRCA1 and BRCA2 are the two main genes causing hereditary breast and ovarian cancer (HBOC). However, thanks to the development of Next Generation Sequencing (NGS), other genes linked to this syndrome (CHEK2, BRIP1, ATM and PALB2 among others) can be analysed. MATERIAL AND METHODS: an analysis by multigene panel testing was performed in 138 index cases (ICs) from HBOC Spanish families with a previous...

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PMID: 35245693
DOI: 10.1016/j.ejmg.2022.104468

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

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