A Molecular Characterization of the Allelic Expression of the BRCA1 Founder Δ9–12 Pathogenic Variant and Its Potential Clinical Relevance in Hereditary Cancer Julieta Dominguez-Ortiz , Rosa M. Alvarez-Gomez , Rogelio Montiel-Manriquez , Alberto Cedro-Tanda , Nicolas Alcaraz , Clementina Castro-Hernandez , Luis Bautista-Hinojosa , Laura Contreras-Espinosa , Leda Torres-Maldonado , Veronica Fragoso-Ontiveros , Yuliana Sanchez-Contreras , Rodrigo Gonzalez-Barrios , Marcela Angelica De la Fuente-Hernandez , Maria de la Luz Mejia-Aguayo , Ulises Juarez-Figueroa , Alejandra Padua-Bracho , Rodrigo Sosa-Leon , Gabriela Obregon-Serrano , Silvia Vidal-Millan , Paulina Maria Nunez-Martinez , Abraham Pedroza-Torres , Sergio Nicasio-Arzeta , Alfredo Rodriguez , Fernando Luna , Fernanda Cisneros-Soberanis , Sara Frias , Cristian Arriaga-Canon , Luis A. Herrera-Montalvo INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES（2024）
Key words
hereditary breast and ovarian cancer, BRCA1, pathogenic variants, founder mutation, BRCA1(Delta 9-12), allele differential expression, isoform, nanopore sequencing
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