Consensus Guidelines on Genetic` Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons

Abstract

BackgroundThe purpose of this consensus guideline is to outline recommendations for genetic testing that medical professionals can use to assess hereditary risk for breast cancer.MethodsLiterature review included large datasets, basic and clinical science publications, and recent updated national guidelines. Genetic testing to assess hereditary risk of cancer is a complex, broad, and dynamic area of medical research. The dominant focus of this guideline is limited in scope to breast cancer.ResultsThere is a lack of consensus among experts regarding which genes among many should be tested in different clinical scenarios. There is also variation in the degree of consensus regarding the understanding of risk and appropriate clinical management of mutations in many genes.ConclusionsGenetic testing should be made available to all patients with a personal history of breast cancer. Recent data are reviewed that support genetic testing being offered to each patient with breast cancer (newly diagnosed or with a personal history). If genetic testing is performed, such testing should include BRCA1/BRCA2 and PALB2, with other genes as appropriate for the clinical scenario and family history. For patients with newly diagnosed breast cancer, identification of a mutation may impact local treatment recommendations. Patients who had genetic testing previously may benefit from updated testing. Genetic testing should be made available to patients without a history of breast cancer who meet National Comprehensive Cancer Network guidelines. Finally, variants of uncertain significance are not clinically actionable and these patients should be managed based on their individual risk factors.

Natural language processing to facilitate breast cancer research and management

“…With the dramatic drop in the cost of DNA sequencing and the wide availability of multigene‐cancer panels, a rapidly increasing number of patients are receiving germline genetic testing, and many are found to have pathogenic variants in genes other than BRCA1 and BRCA2 . Providing patients with accurate risk estimates of developing cancer for each cancer susceptibility gene (penetrance) has become an emergent need for practicing physicians, as this is considered the foundation for personalizing prevention strategies for patients and their families …”

“…Our team adopted this stepwise approach when we built our own risk calculator for cancer susceptibility genes, called Ask2Me.org . This tool has been recommended as a resource in recent clinical practice guidelines . Another approach is to perform a meta‐analysis by finding all the high‐quality penetrance papers and combining their risk estimates into a single format.…”

Should Genetic Testing for Cancer Predisposition Be Standard-of-Care for Women with Invasive Breast Cancer? The Murtha Cancer Center Experience

“…Finally, use of multigene panels is associated with increased detection of VUS. The ASBS Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer state that VUS are not clinically actionable and any patient with a VUS should be counseled based on factors such as family history and age at diagnosis [21]. Most importantly is the concept of patient autonomy [22].…”

The contemporary landscape of genetic testing and breast cancer: Emerging issues

“…One approach is diagnosis-based testing, for example, test all patients with breast cancer. 7,14,15 The American Society of Breast Surgeons (ASBS), for example, endorses testing for all patients with breast cancer that includes at least BRCA1, BRCA2, and PALB2. 14 A second approach is population offering, that is, offering testing broadly, regardless of whether or not an individual has a personal or family history of cancer.…”