NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024

作者：Mary Beryl Daly, Tuya Pal, Kara N. Maxwell, Jane E. Churpek, Wendy K. 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 E. Khoury, Allison W. Kurian, Christine Laronga, Julie S. Mak, John C. Mansour, Kevin McDonnell, Carolyn S. Menendez, Sofia Diana Merajver, Barbara M. Norquist, Kenneth Offit, Dominique Rash, Gwen Reiser, Leigha Senter-Jamieson, Kristen Mahoney Shannon, Kala Visvanathan, Jeanna L. Welborn, Myra J. Wick, Marie E. Wood, Matthew B.B. Yurgelun, Mary A. Dwyer, Susan D. Darlow · 发表于：Journal of the National Comprehensive Cancer Network · 年份：2023 · DOI：10.6004/jnccn.2023.0051 · 被引用次数：316 · 研究领域：BRCA gene mutations in cancer、Nutrition, Genetics, and Disease

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.