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Review
. 2021 Aug 23;22(10):85.
doi: 10.1007/s11864-021-00887-4.

Understanding the Clinical Implications of Low Penetrant Genes and Breast Cancer Risk

Anusha Vaidyanathan  1 , Virginia Kaklamani  2
Affiliations
Review

Understanding the Clinical Implications of Low Penetrant Genes and Breast Cancer Risk

Anusha Vaidyanathan et al. Curr Treat Options Oncol. .

Abstract

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.

Keywords: Breast cancer; Cancer risks; Limited evidence genes; Low penetrance; Management; Surveillance.

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References

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