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Curr Treat Options Oncol ; 22(10): 85, 2021 08 23.
Artículo en Inglés | MEDLINE | ID: mdl-34424438

RESUMEN

OPINION STATEMENT: Since the 2013 Supreme Court declaration, panel testing for hereditary cancer syndromes has evolved into the gold standard for oncology germline genetic testing. With the advent of next-generation sequencing, competitive pricing, and developing therapeutic options, panel testing is now well integrated into breast cancer management and surveillance. Although many established syndromes have well-defined cancer risks and management strategies, several breast cancer genes are currently classified as limited-evidence genes by the National Comprehensive Cancer Network (NCCN). Follow-up for individuals with mutations in these genes is a point of contention due to conflicting information in the literature. The most recent NCCN guidelines have stratified management based on gene-specific cancer risks indicating that expanding data will allow for better recommendations as research progresses. The evolving management for these genes emphasizes the clinicians' need for evidence-based understanding of low penetrance breast cancer genes and their implications for patient care. This article reviews current literature for limited evidence genes, detailing cancer risks, association with triple-negative breast cancer, and recommendations for surveillance. A brief review of the challenges and future directions is outlined to discuss the evolving nature of cancer genetics and the exciting opportunities that can impact management.


Asunto(s)
Neoplasias de la Mama/genética , Neoplasias Colorrectales Hereditarias sin Poliposis/genética , Vigilancia de la Población , Proteínas de Ciclo Celular/genética , Reparación de la Incompatibilidad de ADN/genética , Proteínas de Unión al ADN/genética , Proteínas del Grupo de Complementación de la Anemia de Fanconi/genética , Femenino , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Mutación de Línea Germinal , Humanos , Proteínas Nucleares/genética , Penetrancia , ARN Helicasas/genética , Proteínas Supresoras de Tumor/genética , Ubiquitina-Proteína Ligasas/genética
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