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Journal of Translational Medicine|June 12, 2020
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detectionCarolina Velázquez, Enrique Lastra, Francisco Avila Cobos, et al.
Breast Cancer Research and Treatment|December 2, 2009
Two founder BRCA2 mutations predispose to breast cancer in young womenMar Infante, Mercedes Durán, Adriana Lasa, et al.
Cancers|August 7, 2020
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian CancerCarolina Velázquez, De Leeneer K, Eva M Esteban-Cardeñosa, et al.
Human Mutation|July 4, 2018
Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case studyGemma Montalban, Eugenia Fraile-Bethencourt, Irene López-Perolio, et al.
Cancer Prevention Research (Philadelphia, Pa.)|July 23, 2011
Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotypeLucia Pérez-Cabornero, Ester Borrás Flores, Mar Infante Sanz, et al.
Cancers|July 2, 2021
<i>RAD51D</i> Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA VariantsElena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, et al.
Clinical Chemistry|September 19, 2023
Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site VariantsLara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, et al.
Carcinogenesis|August 10, 2013
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple originsMar Infante, Mercedes Durán, Alberto Acedo, et al.
International Journal of Cancer|October 17, 2013
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variantsSara Gutiérrez-Enríquez, Sandra Bonache, Gorka Ruíz de Garibay, et al.
Breast Cancer Research and Treatment|November 5, 2011
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancerAna Blanco, Miguel de la Hoya, Judith Balmaña, et al.
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