美国国立综合癌症网络（NCCN）指南见解：遗传/家族性高风险评估：乳腺癌、卵巢癌和胰腺癌，2024年第2版

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

作者信息

Daly Mary B, Pal Tuya, Maxwell Kara N, Churpek Jane, Kohlmann Wendy, AlHilli Zahraa, Arun Banu, Buys Saundra S, Cheng Heather, Domchek Susan M, Friedman Susan, Giri Veda, Goggins Michael, Hagemann Andrea, Hendrix Ashley, Hutton Mollie L, Karlan Beth Y, Kassem Nawal, Khan Seema, Khoury Katia, Kurian Allison W, Laronga Christine, Mak Julie S, Mansour John, McDonnell Kevin, Menendez Carolyn S, Merajver Sofia D, Norquist Barbara S, Offit Kenneth, Rash Dominique, Reiser Gwen, Senter-Jamieson Leigha, Shannon Kristen Mahoney, Visvanathan Kala, Welborn Jeanna, Wick Myra J, Wood Marie, Yurgelun Matthew B, Dwyer Mary A, Darlow Susan D

机构信息

1Fox Chase Cancer Center.

2Vanderbilt-Ingram Cancer Center.

出版信息

J Natl Compr Canc Netw. 2023 Oct;21(10):1000-1010. doi: 10.6004/jnccn.2023.0051.

DOI:10.6004/jnccn.2023.0051

PMID:37856201

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.

摘要

《NCCN遗传/家族性高危评估指南：乳腺癌、卵巢癌和胰腺癌》主要关注与乳腺癌、卵巢癌、胰腺癌和前列腺癌风险增加相关的致病性/可能致病性（P/LP）变异的评估，包括BRCA1、BRCA2、CDH1、PALB2、PTEN和TP53，以及针对携带这些P/LP变异个体的遗传咨询/检测推荐方法和护理策略。这些NCCN指南见解总结了以下重要更新：（1）为有癌症遗传易感性的跨性别者、非二元性别者和性别多样化者新增了一个章节，重点关注卵巢癌、子宫癌、前列腺癌和乳腺癌的风险降低策略；（2）与TP53 P/LP变异和李-佛美尼综合征相关的检测标准和管理。