Genetic/familial high-risk assessment: Breast, ovarian, and pancreatic, version 2.2021

Mary B. Daly, Tuya Pal, Michael P. Berry, Saundra S. Buys, Patricia Dickson, Susan M. Domchek, Ahmed Elkhanany, Susan Friedman, Michael Goggins, Mollie L. Hutton, Beth Y. Karlan, Seema Khan, Catherine Klein, Wendy Kohlmann, Allison W. Kurian, Christine Laronga, Jennifer K. Litton, Julie S. Mak, Carolyn S. Menendez, Sofia D. MerajverBarbara S. Norquist, Kenneth Offit, Holly J. Pederson, Gwen Reiser, Leigha Senter-Jamieson, Kristen Mahoney Shannon, Rebecca Shatsky, Kala Visvanathan, Jeffrey N. Weitzel, Myra J. Wick, Kari B. Wisinski, Matthew B. Yurgelun, Susan D. Darlow, Mary A. Dwyer

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations

Abstract

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic focus primarily on assessment of pathogenic or likely pathogenic variants associated with increased risk of breast, ovarian, and pancreatic cancer and recommended approaches to genetic testing/counseling and management strategies in individuals with these pathogenic or likely pathogenic variants. This manuscript focuses on cancer risk and risk management for BRCA-related breast/ovarian cancer syndrome and Li-Fraumeni syndrome. Carriers of a BRCA1/2 pathogenic or likely pathogenic variant have an excessive risk for both breast and ovarian cancer that warrants consideration of more intensive screening and preventive strategies. There is also evidence that risks of prostate cancer and pancreatic cancer are elevated in these carriers. Li-Fraumeni syndrome is a highly penetrant cancer syndrome associated with a high lifetime risk for cancer, including soft tissue sarcomas, osteosarcomas, premenopausal breast cancer, colon cancer, gastric cancer, adrenocortical carcinoma, and brain tumors.

Original languageEnglish (US)
Pages (from-to)77-102
Number of pages26
JournalJNCCN Journal of the National Comprehensive Cancer Network
Volume19
Issue number1
DOIs
StatePublished - Jan 2021

ASJC Scopus subject areas

  • Oncology

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