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. 2023 Oct;21(10):1000-1010.
doi: 10.6004/jnccn.2023.0051.

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

Mary B Daly  1 , Tuya Pal  2 , Kara N Maxwell  3 , Jane Churpek  4 , Wendy Kohlmann  5 , Zahraa AlHilli  6 , Banu Arun  7 , Saundra S Buys  5 , Heather Cheng  8 , Susan M Domchek  3 , Susan Friedman  9 , Veda Giri  10 , Michael Goggins  11 , Andrea Hagemann  12 , Ashley Hendrix  13 , Mollie L Hutton  14 , Beth Y Karlan  15 , Nawal Kassem  16 , Seema Khan  17 , Katia Khoury  18 , Allison W Kurian  19 , Christine Laronga  20 , Julie S Mak  21 , John Mansour  22 , Kevin McDonnell  23 , Carolyn S Menendez  24 , Sofia D Merajver  25 , Barbara S Norquist  8 , Kenneth Offit  26 , Dominique Rash  27 , Gwen Reiser  28 , Leigha Senter-Jamieson  29 , Kristen Mahoney Shannon  30 , Kala Visvanathan  11 , Jeanna Welborn  31 , Myra J Wick  32 , Marie Wood  33 , Matthew B Yurgelun  34 , Mary A Dwyer  35 , Susan D Darlow  35
Affiliations

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

Mary B Daly et al. J Natl Compr Canc Netw. 2023 Oct.

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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