Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024 Featured Updates to the NCCN Guidelines

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Abstract

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic/ likely pathogenic (P/LP) variants associated with increased risk of breast, ovarian, pancreatic, and prostate cancer, including BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53, and recommended approaches to genetic counseling/testing and care strategies in individuals with these P/LP variants. These NCCN Guidelines Insights summarize important updates regarding: (1) a new section for transgender, nonbinary and gender diverse people who have a hereditary predisposition to cancer focused on risk reduction strategies for ovarian cancer, uterine cancer, prostate cancer, and breast cancer; and (2) testing criteria and management associated with TP53 P/LP variants and Li-Fraumeni syndrome.

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Daly, M. B., Pal, T., Maxwell, K. N., Churpek, J., Kohlmann, W., AlHilli, Z., … Darlow, S. D. (2023). Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024 Featured Updates to the NCCN Guidelines. JNCCN Journal of the National Comprehensive Cancer Network, 21(10), 1001–1010. https://doi.org/10.6004/jnccn.2023.0051

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