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Curr Treat Options Oncol ; 22(10): 85, 2021 08 23.
Article in English | MEDLINE | ID: mdl-34424438

ABSTRACT

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.


Subject(s)
Breast Neoplasms/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Population Surveillance , Cell Cycle Proteins/genetics , DNA Mismatch Repair/genetics , DNA-Binding Proteins/genetics , Fanconi Anemia Complementation Group Proteins/genetics , Female , Genetic Predisposition to Disease , Genetic Testing , Germ-Line Mutation , Humans , Nuclear Proteins/genetics , Penetrance , RNA Helicases/genetics , Tumor Suppressor Proteins/genetics , Ubiquitin-Protein Ligases/genetics
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