Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia
Hereditary breast and ovarian cancer (HBOC) follows an autosomal dominant inheritance pattern of cancer susceptibility genes. The risk of developing this disease is primarily associated with germline mutations in the BRCA1 and BRCA2 genes. The advent of massive genetic sequencing technologies has ex...
Main Authors: | Rosado-Jiménez Laura, Mestre-Terkemani Younes, García-Aliaga Ángeles, Marín-Vera Miguel, Macías-Cerrolaza José Antonio, Sarabia-Meseguer María Desamparados, García-Hernández María Rosario, Zafra-Poves Marta, Sánchez-Henarejos Pilar, Ayala de la Peña Francisco, Alonso-Romero José Luis, Noguera-Velasco José Antonio, Ruiz-Espejo Francisco |
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Format: | Article |
Language: | English |
Published: |
De Gruyter
2023-09-01
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Series: | Advances in Laboratory Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1515/almed-2023-0103 |
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