NCCN Announces Expanded Practice Guidelines for Breast Cancer With Hereditary Risks

The National Comprehensive Cancer Network (NCCN) announced its publication of expanded NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate. The guidelines closely follow the recent publication of the expanded NCCN Guidelines of Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric.¹

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“These expanded guidelines reflect the recommendations from leading experts on genetic testing based on the latest scientific research across the cancer spectrum, consolidated into 2 convenient resources,” Crystal S. Denlinger, MD, CEO of NCCN, said in a news release. “This information is critical for guiding shared decision-making between health care providers and their patients, enhancing screening practices as appropriate, and potentially choosing options for prevention and targeted treatment choices. Genetic testing guidelines enable us to better care for people with cancer and their family members.”¹

Additional cancer types were added to the title and content for both guidelines. According to NCCN, these updates consider the growing use of genetic testing within cancer prevention, screening, and treatment. According to NCCN, these guidelines include information on when genetic testing is recommended as well as which type of testing may be best for patients. Additionally, they detail which hereditary conditions and genetic mutations are associated with an increased risk of cancer while including follow-up information on what individuals who have them should do. These steps can include instructions for increased screening, and in some cases, preventative surgeries or other interventions.^1,2

Further, the updated guidelines take into account the latest published research that specifically focuses on caring for individuals who are at a risk for hereditary breast, ovarian, pancreatic, or prostate cancers. For breast cancer, it is recommended that genetic testing is performed based on personal (eg, those with personal history of multiple primary breast cancers, individuals diagnosed with breast cancer before the age of 60 years) or family history (eg, relatives meeting testing criteria for hereditary breast and ovarian symptoms, presence of BRCA1/BRCA2 pathogenic variants in relatives), and special populations (eg, those with high-penetrance breast cancer susceptibility genes).²

Management recommendations involve screening (eg, annual breast screenings based on family history), risk reduction (eg, surgery), and follow-up (eg, periodic reassessment of genetic risks and adherence to screening protocols). Additionally, testing and counseling protocols involving both pre-test (eg, family history, education on genetic testing) and post-test counseling (eg, interpretation of results, options for further management particularly in the case of positive or uncertain findings).²

If criteria for these are not met, the guidelines recommend that testing is considered for other hereditary syndromes. If still not met, then cancer screening should be performed as per the NCCN’s Screening Guidelines.^1,2

“These guideline panels are continuously active and engaged, constantly responding to new evidence as it becomes available to provide the most up-to-date information to NCCN Guidelines users,” Mary B. Daly, MD, PhD, FACP, chair of the NCCN Guidelines panel for Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate, said in the news release. “These updates include the spectrum of genes associated with genetic syndromes, the range of risk associated with each pathogenic variant, the improvements in screening and prevention strategies, the role of genetic data to inform cancer treatment, and the expansion of the role of genetic counseling as this field moves forward.”¹

REFERENCES

1. Cancer Genetic Risk Assessment Guidelines Expand to Meet Growing Understanding of Hereditary Risk. News release. National Comprehensive Cancer Network. November 7, 2024. Accessed November 19, 2024. https://www.nccn.org/home/news/newsdetails?NewsId=4840

2. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate. November 7, 2024. Accessed November 19, 2024. https://www.nccn.org/professionals/physician_gls/pdf/genetics_bopp.pdf