Abstract
BackgroundBreast cancer is the second leading cause of cancer death in women. There are multiple pathogenic mutations in addition to BRCA1/2 that are implicated in causing hereditary breast cancer.Methods and resultsWe conducted a retrospective analysis of 1568 patients with breast cancer diagnosed between January 1, 2015, and December 31, 2018. The age range is 23-87. Among the study population, 26% had genetic testing and 8% of those were found to carry a pathogenic variant, as designated in NCCN (National Comprehensive Cancer Network) Guidelines. Of that 8%, 3.4% were BRCA1 and BRCA2 mutations, and the rest were other prevalent pathogenic variants.DiscussionExpanded panel testing has the potential to increase the detection rate of pathogenic variants compared to testing for BRCA1/2 alone. Diagnostic accuracy of genetic causes of breast cancer has a significant clinical impact on patients and their families in terms of targeted treatment and prevention strategies. There is a strong need for further understanding of genetic patterns and variations in hereditary breast cancer. Awareness of the possibility of moderate to low penetrance genes and variants of uncertain significance (VUS) is important to assist with appropriate genetic counseling. We believe that physicians should consider re-testing with an expanded panel if patients previously had BRCA1 and BRCA2 testings only with a negative result as it may identify additional mutations.
Highlights
Breast cancer is the second leading cause of cancer death in women
Expanded panel testing has the potential to increase the detection rate of pathogenic variants compared to testing for BRCA1/2 alone
Multi-gene testing and expanded panel testing of all breast cancer patients could increase the detection rate of pathogenic variants compared to testing for BRCA1/2 alone and may have a potential clinical impact for patients and their families in terms of targeted treatment and prevention strategies
Summary
Breast cancer is the second leading cause of cancer death in women. most breast cancers are sporadic, an estimated 5-10% are due to hereditary causes [1,2]. NCCN has modified the criteria for customized panel testing with the use of the multi-gene panel, useful for breast cancer and other cancers and syndromes associated with cancers. Genes such as CDH1, MSH2, MLH1, MSH6, PMS2, PTEN, STK11, and TP53 have corresponding current management suggestions in the NCCN guidelines. Recent studies have shown an increase in the diagnosis of hereditary breast cancer with the use of multigene panels compared to the restricted gene panel, and guidelines recommend genetic testing for all patients with breast cancer as well as multigene testing for those with negative BRCA1/2 testing [5]. There are multiple pathogenic mutations in addition to BRCA1/2 that are implicated in causing hereditary breast cancer
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