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

Research output: Contribution to journalArticlepeer-review

200 Scopus citations

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.

Original languageEnglish
Pages (from-to)1000-1010
Number of pages11
JournalJournal of the National Comprehensive Cancer Network : JNCCN
Volume21
Issue number10
DOIs
StatePublished - Oct 2023

Keywords

  • Breast Neoplasms/diagnosis
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Germ-Line Mutation
  • Humans
  • Male
  • Ovarian Neoplasms/diagnosis
  • Risk Factors

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