Article
A Molecular Characterization of the Allelic Expression of the BRCA1 Founder Δ9-12 Pathogenic Variant and Its Potential Clinical Relevance in Hereditary Cancer.
International journal of molecular sciences - 20 Jun 2024
Dominguez-Ortiz Julieta, Álvarez-Gómez Rosa M, Montiel-Manríquez Rogelio, Cedro-Tanda Alberto, Alcaraz Nicolás, Castro-Hernández Clementina, Bautista-Hinojosa Luis, Contreras-Espinosa Laura, Torres-Maldonado Leda, Fragoso-Ontiveros Verónica, Sánchez-Contreras Yuliana, González-Barrios Rodrigo, Fuente-Hernández Marcela Angélica De la, Mejía-Aguayo María de la Luz, Juárez-Figueroa Ulises, Padua-Bracho Alejandra, Sosa-León Rodrigo, Obregon-Serrano Gabriela, Vidal-Millán Silvia, Núñez-Martínez Paulina María, Pedroza-Torres Abraham, Nicasio-Arzeta Sergio, Rodríguez Alfredo, Luna Fernando, Cisneros-Soberanis Fernanda, Frías Sara, Arriaga-Canon Cristian, Herrera-Montalvo Luis A
Abstract excerpt
Hereditary breast and ovarian cancer (HBOC) syndrome is a genetic condition that increases the risk of breast cancer by 80% and that of ovarian cancer by 40%. The most common pathogenic variants (PVs) causing HBOC occur in the BRCA1 gene, with more than 3850 reported mutations in the gene sequence. The prevalence of specific PVs in BRCA1 has increased across populations due to the effect of founder mutations....
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