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NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024. Journal of the National Comprehensive Cancer Network : JNCCN Daly, M. B., Pal, T., Maxwell, K. N., Churpek, J., Kohlmann, W., AlHilli, Z., Arun, B., Buys, S. S., Cheng, H., Domchek, S. M., Friedman, S., Giri, V., Goggins, M., Hagemann, A., Hendrix, A., Hutton, M. L., Karlan, B. Y., Kassem, N., Khan, S., Khoury, K., Kurian, A. W., Laronga, C., Mak, J. S., Mansour, J., McDonnell, K., Menendez, C. S., Merajver, S. D., Norquist, B. S., Offit, K., Rash, D., Reiser, G., Senter-Jamieson, L., Shannon, K. M., Visvanathan, K., Welborn, J., Wick, M. J., Wood, M., Yurgelun, M. B., Dwyer, M. A., Darlow, S. D. 2023; 21 (10): 1000-1010

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.

View details for DOI 10.6004/jnccn.2023.0051

View details for PubMedID 37856201