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Daly MB , Pal T , Berry MP , Buys SS , Dickson P , Domchek SM , Elkhanany A , Friedman S , Goggins M , Hutton ML , Karlan BY , Khan S , Klein C , Kohlmann W , Kurian AW , Laronga C , Litton JK , Mak JS , Menendez CS , Merajver SD , Norquist BS , Offit K , Pederson HJ , Reiser G , Senter-Jamieson L , Shannon KM , Shatsky R , Visvanathan K , Weitzel JN , Wick MJ , Wisinski KB , Yurgelun MB , Darlow SD , Dwyer MA
Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology
J Natl Compr Canc Netw. 2021 Jan 6;19(1) :77-102
PMID: 33406487   
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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.
1540-1413 Daly, Mary B Pal, Tuya Berry, Michael P Buys, Saundra S Dickson, Patricia Domchek, Susan M Elkhanany, Ahmed Friedman, Susan Goggins, Michael Hutton, Mollie L Cgc Karlan, Beth Y Khan, Seema Klein, Catherine Kohlmann, Wendy Kurian, Allison W Laronga, Christine Litton, Jennifer K Mak, Julie S Lcgc Menendez, Carolyn S Merajver, Sofia D Norquist, Barbara S Offit, Kenneth Pederson, Holly J Reiser, Gwen Senter-Jamieson, Leigha Shannon, Kristen Mahoney Shatsky, Rebecca Visvanathan, Kala Weitzel, Jeffrey N Wick, Myra J Wisinski, Kari B Yurgelun, Matthew B Darlow, Susan D Dwyer, Mary A Journal Article United States J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001.