Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024 Featured Updates to the NCCN Guidelines

被引：121

作者：

Daly, Mary B. ^{[1
]}

Pal, Tuya ^{[2
]}

Maxwell, Kara N. ^{[3
]}

Churpek, Jane ^{[4
]}

Kohlmann, Wendy ^{[5
]}

Alhilli, Zahraa ^{[6
,7
]}

Arun, Banu ^{[8
]}

Buys, Saundra S. ^{[5
]}

Cheng, Heather ^{[9
]}

Domchek, Susan M. ^{[3
]}

Friedman, Susan ^{[10
]}

Giri, Veda ^{[11
]}

Goggins, Michael ^{[12
]}

Hagemann, Andrea ^{[13
,14
]}

Hendrix, Ashley ^{[15
]}

Hutton, Mollie L. ^{[16
]}

Karlan, Beth Y. ^{[17
]}

Kassem, Nawal ^{[18
]}

Khan, Seema ^{[19
]}

Khoury, Katia ^{[20
]}

Kurian, Allison W. ^{[21
]}

Laronga, Christine ^{[22
]}

Mak, Julie S. ^{[23
]}

Mansour, John ^{[24
]}

McDonnell, Kevin ^{[25
]}

Menendez, Carolyn S. ^{[26
]}

Merajver, Sofia D. ^{[27
]}

Norquist, Barbara S. ^{[9
]}

Offit, Kenneth ^{[28
]}

Rash, Dominique ^{[29
]}

Reiser, Gwen ^{[30
]}

Senter-Jamieson, Leigha ^{[31
,32
]}

Shannon, Kristen Mahoney ^{[33
]}

Visvanathan, Kala ^{[12
]}

Welborn, Jeanna ^{[34
]}

Wick, Myra J. ^{[35
]}

Wood, Marie ^{[36
]}

Yurgelun, Matthew B. ^{[37
]}

Dwyer, Mary A. ^{[38
]}

Darlow, Susan D. ^{[38
]}

机构：

[1] Fox Chase Canc Ctr, Philadelphia, PA 19111 USA

[2] Vanderbilt Univ, Nashville, TN USA

[3] Univ Penn, Abramson Canc Ctr, Philadelphia, PA USA

[4] Univ Wisconsin, Carbone Canc Ctr, Madison, WI USA

[5] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT USA

[6] Univ Hosp Seidman Canc Ctr, Case Comprehens Canc Ctr, Cleveland, OH USA

[7] Cleveland Clin Taussig Canc Inst, Cleveland, OH USA

[8] Univ Texas MD Anderson Canc Ctr, Houston, TX USA

[9] Fred Hutchinson Canc Ctr, Seattle, WA USA

[10] FORCE Facing Our Risk Canc Empowered, Tampa, FL USA

[11] Smilow Canc Hosp, Yale Canc Ctr, New Haven, CT USA

[12] Sidney Kimmel Comprehens Canc Ctr Johns Hopkins, Baltimore, MD USA

[13] Barnes Jewish Hosp, Siteman Canc Ctr, St Louis, MO USA

[14] Washington Univ, Sch Med, St Louis, MO USA

[15] Univ Tennessee Hlth Sci Ctr, St Jude Childrens Res Hosp, Memphis, TN USA

[16] Roswell Pk Comprehens Canc Ctr, Buffalo, NY USA

[17] UCLA Jonsson Comprehens Canc Ctr, Los Angeles, CA USA

[18] Indiana Univ, Melvin & Bren Simon Comprehens Canc Ctr, Indianapolis, IN USA

[19] Northwestern Univ, Robert H Lurie Comprehens Canc Ctr, Evanston, IL USA

[20] UAB, ONeal Comprehens Canc Ctr, Birmingham, AL USA

[21] Stanford Canc Inst, Stanford, CA USA

[22] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA

[23] UCSF Helen Diller Family Comprehens Canc Ctr, San Francisco, CA USA

[24] UT Southwestern, Simmons Comprehens Canc Ctr, Dallas, TX USA

[25] City Hope Natl Med Ctr, Duarte, CA USA

[26] Duke Canc Inst, Durham, NC USA

[27] Univ Michigan, Rogel Canc Ctr, Ann Arbor, MI USA

[28] Mem Sloan Kettering Canc Ctr, New York, NY USA

[29] UC San Diego Moores Canc Ctr, San Diego, CA USA

[30] Fred & Pamela Buffett Canc Ctr, Omaha, NE USA

[31] Ohio State Univ, James Canc Hosp, Comprehens Canc Ctr, Columbus, OH USA

[32] Solove Res Inst, Columbus, OH USA

[33] Mass Gen Canc Ctr, Boston, MA USA

[34] UC Davis Comprehens Canc Ctr, Sacramento, CA USA

[35] Mayo Clin, Comprehens Canc Ctr, Rochester, MI USA

[36] Univ Colorado, Canc Ctr, Denver, CO USA

[37] Dana Farber Brigham & Womens Canc Ctr, Boston, MA USA

[38] Natl Comprehens Canc Network, Plymouth Meeting, PA USA

来源：

JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK | 2023年 / 21卷 / 10期

关键词：

LI-FRAUMENI-SYNDROME; TP53 MUTATION CARRIERS; GERMLINE MUTATION; IMAGING SURVEILLANCE; P53; MUTATIONS; CANCER-RISK; FOLLOW-UP; FAMILIES; LANDSCAPE; RHABDOMYOSARCOMA;

D O I：

10.6004/jnccn.2023.0051

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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 up-dates 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 manage-ment associated with TP53 P/LP variants and Li-Fraumeni syndrome.J Natl Compr Canc Netw 2023;21(10):1000-1010doi:10.6004/jnccn.2023.0051

引用

页码：1000 / 1010

页数：11

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