NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024
Mary B. Daly, Tuya Pal, Kara N. Maxwell, Jane Churpek, Wendy Kohlmann, Zahraa Al‐Hilli, Banu Arun, Saundra S. Buys, Heather H. Cheng, Susan M. Domchek, Susan Friedman, Veda N. Giri, Michael Goggins, Andrea R. Hagemann, Ashley Hendrix, Mollie L. Hutton, Beth Y. Karlan, Nawal Kassem, Seema Khan, Katia Khoury, Allison W. Kurian, Christine Laronga, Julie Mak, John C. Mansour, Kevin McDonnell, Carolyn S. Menendez, Sofía D. Merajver, Barbara S. Norquist, Kenneth Offit, Dominique Rash, Gwen Reiser, Leigha Senter-Jamieson, Kristen M. Shannon, Kala Visvanathan, Jeanna Welborn, Myra Wick, Marie Wood, Matthew B. Yurgelun, Mary A. Dwyer, Susan Darlow
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.