NCCN Guidelines® Insights Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017 Featured Updates to the NCCN Guidelines

被引：97

作者：

Gupta, Samir ^{[1
]}

Provenzale, Dawn ^{[2
]}

Regenbogen, Scott E. ^{[3
]}

Hampel, Heather ^{[4
,5
]}

Slavin, Thomas P., Jr. ^{[5
,6
]}

Hall, Michael J. ^{[7
]}

Llor, Xavier ^{[8
]}

Chung, Daniel C. ^{[9
]}

Ahnen, Dennis J. ^{[10
]}

Bray, Travis ^{[11
]}

Cooper, Gregory ^{[12
,13
]}

Early, Dayna S. ^{[14
,15
]}

Ford, James M. ^{[16
]}

Giardiello, Francis M. ^{[17
]}

Grady, William ^{[18
]}

Halverson, Amy L. ^{[19
]}

Hamilton, Stanley R. ^{[20
]}

Klapman, Jason B. ^{[21
]}

Larson, David W. ^{[22
]}

Lazenby, Audrey J. ^{[23
]}

Lynch, Patrick M. ^{[20
]}

Markowitz, Arnold J. ^{[24
]}

Mayer, Robert J. ^{[25
]}

Ness, Reid M. ^{[26
]}

Samadder, Niloy Jewel ^{[27
]}

Shike, Moshe ^{[24
]}

Sugandha, Shajanpeter ^{[28
]}

Weiss, Jennifer M. ^{[29
]}

Dwyer, Mary A. ^{[30
]}

Ogba, Ndiya ^{[30
]}

机构：

[1] UC San Diego Moores Canc Ctr, La Jolla, CA 92093 USA

[2] Duke Canc Inst, Durham, NC 27710 USA

[3] Univ Michigan, Ctr Comprehens Canc, Ann Arbor, MI 48109 USA

[4] Ohio State Univ, Ctr Comprehens Canc, James Canc Hosp, Columbus, OH 43210 USA

[5] Solove Res Inst, Columbus, OH 43210 USA

[6] City Hope Comprehens Canc Ctr, Duarte, CA 91010 USA

[7] Fox Chase Canc Ctr, 7701 Burholme Ave, Philadelphia, PA 19111 USA

[8] Smilow Canc Hosp, Yale Canc Center, New Haven, CT 06510 USA

[9] Massachusetts Gen Hosp, Ctr Canc, Boston, MA 02114 USA

[10] Univ Colorado, Ctr Canc, Boulder, CO 80309 USA

[11] Hereditary Colon Canc Fdn, Portland, OR USA

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

[13] Cleveland Clin, Taussig Canc Inst, Cleveland, OH 44106 USA

[14] Barnes Jewish Hosp, Siteman Canc Ctr, St Louis, MO 63110 USA

[15] Washington Univ, Sch Med, St Louis, MO 63130 USA

[16] Stanford Canc Inst, Stanford, CA USA

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

[18] Seattle Canc Care Alliance, Fred Hutchinson Canc Res Ctr, Washington, DC USA

[19] Northwestern Univ, Robert H Lurie Comprehens Canc Ctr, Evanston, IL 60208 USA

[20] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA

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

[22] Mayo Clin, Ctr Canc, Rochester, MN USA

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

[24] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA

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

[26] Vanderbilt Ingram Canc Ctr, Nashville, TN USA

[27] Univ Utah, Huntsman Canc Inst, Salt Lake City, UT 84112 USA

[28] Univ Alabama, Birmingham Comprehens Canc Ctr, Tuscaloosa, AL 35487 USA

[29] Univ Wisconsin, Carbone Canc Ctr, Madison, WI 53706 USA

[30] Nat Comprehens Canc Network, Ft Washington, PA 19034 USA

来源：

JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK | 2017年 / 15卷 / 12期

关键词：

I1307K APC POLYMORPHISM; MIXED POLYPOSIS SYNDROME; NON-ASHKENAZI JEWS; CANCER-RISK; GERMLINE MUTATIONS; APC-I1307K POLYMORPHISM; ADENOMATOUS POLYPOSIS; ECTODERMAL DYSPLASIA; BREAST-CANCER; PANEL;

D O I：

10.6004/jnccn.2017.0176

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: Colorectal provide recommendations for the management of patients with high-risk syndromes associated with an increased risk of colorectal cancer (CRC). The NCCN Panel for Genetic/Familial High-Risk Assessment: Colorectal meets at least annually to assess comments from reviewers within their institutions, examine relevant data, and reevaluate and update their recommendations. These NCCN Guidelines Insights focus on genes newly associated with CRC risk on multigene panels, the associated evidence, and currently recommended management strategies.

引用

页码：1465 / 1474

页数：10

共 51 条

[1] Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis [J].

Adam, Ronja ;

Spier, Isabel ;

Zhao, Bixiao ;

Kloth, Michael ;

Marquez, Jonathan ;

Hinrichsen, Inga ;

Kirfel, Jutta ;

Tafazzoli, Aylar ;

Horpaopan, Sukanya ;

Uhlhaas, Siegfried ;

Stienen, Dietlinde ;

Friedrichs, Nicolaus ;

Altmueller, Janine ;

Laner, Andreas ;

Holzapfel, Stefanie ;

Peters, Sophia ;

Kayser, Katrin ;

Thiele, Holger ;

Holinski-Feder, Elke ;

Marra, Giancarlo ;

Kristiansen, Glen ;

Noethen, Markus M. ;

Buettner, Reinhard ;

Moeslein, Gabriela ;

Betz, Regina C. ;

Brieger, Angela ;

Lifton, Richard P. ;

Aretz, Stefan .

AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (02) :337-351

[2] POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance [J].

Bellido, Fernando ;

Pineda, Marta ;

Aiza, Gemma ;

Valdes-Mas, Rafael ;

Navarro, Matilde ;

Puente, Diana A. ;

Pons, Tirso ;

Gonzalez, Sara ;

Iglesias, Silvia ;

Darder, Esther ;

Pinol, Virginia ;

Luis Soto, Jose ;

Valencia, Alfonso ;

Blanco, Ignacio ;

Urioste, Miguel ;

Brunet, Joan ;

Lazaro, Conxi ;

Capella, Gabriel ;

Puente, Xose S. ;

Valle, Laura .

GENETICS IN MEDICINE, 2016, 18 (04) :325-332

[3] The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews [J].

Boursi, Ben ;

Sella, Tal ;

Liberman, Eliezer ;

Shapira, Shiran ;

David, Maayan ;

Kazanov, Diana ;

Arber, Nadir ;

Kraus, Sarah .

EUROPEAN JOURNAL OF CANCER, 2013, 49 (17) :3680-3685

[4] Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory [J].

Cragun, D. ;

Radford, C. ;

Dolinsky, J. S. ;

Caldwell, M. ;

Chao, E. ;

Pal, T. .

CLINICAL GENETICS, 2014, 86 (06) :510-520

[5] Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk [J].

Easton, Douglas F. ;

Pharoah, Paul D. P. ;

Antoniou, Antonis C. ;

Tischkowitz, Marc ;

Tavtigian, Sean V. ;

Nathanson, Katherine L. ;

Devilee, Peter ;

Meindl, Alfons ;

Couch, Fergus J. ;

Southey, Melissa ;

Goldgar, David E. ;

Evans, Gareth R. ;

Chenevix-Trench, Georgia ;

Rahman, Nazneen ;

Robson, Mark ;

Domchek, Susan M. ;

Foulkes, William D. .

NEW ENGLAND JOURNAL OF MEDICINE, 2015, 372 (23) :2243-2257

[6] Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer [J].

Elsayed, Fadwa A. ;

Kets, C. Marleen ;

Ruano, Dina ;

van den Akker, Brendy ;

Mensenkamp, Arjen R. ;

Schrumpf, Melanie ;

Nielsen, Maartje ;

Wijnen, Juul T. ;

Tops, Carli M. ;

Ligtenberg, Marjolijn J. ;

Vasen, Hans F. A. ;

Hes, Frederik J. ;

Morreau, Hans ;

van Wezel, Tom .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (08) :1080-1084

[7] POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer [J].

Esteban-Jurado, Clara ;

Gimenez-Zaragoza, David ;

Munoz, Jenifer ;

Franch-Exposito, Sebastia ;

Alvarez-Barona, Miriam ;

Ocana, Teresa ;

Cuatrecasas, Miriam ;

Carballal, Sabela ;

Lopez-Ceron, Mara ;

Marti-Solano, Maria ;

Diaz-Gay, Marcos ;

van Wezel, Tom ;

Castells, Antoni ;

Bujanda, Luis ;

Balmana, Judith ;

Gonzalo, Victoria ;

Llort, Gemma ;

Ruiz-Ponte, Clara ;

Cubiella, Joaquin ;

Balaguer, Francesc ;

Aligue, Rosa ;

Castellvi-Bel, Sergi .

ONCOTARGET, 2017, 8 (16) :26732-26743

[8] DNA polymerases that propagate the eukaryotic DNA replication fork [J].

Garg, P ;

Burgers, PMJ .

CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2005, 40 (02) :115-128

[9] Cancer risks in first-degree relatives of CHEK2 mutation carriers: effects of mutation type and cancer site in proband [J].

Gronwald, J. ;

Cybulski, C. ;

Piesiak, W. ;

Suchy, J. ;

Huzarski, T. ;

Byrski, T. ;

Gorski, B. ;

Debniak, T. ;

Szwiec, M. ;

Wokolowczyk, D. ;

Matuszewski, M. ;

Sun, P. ;

Lubinski, J. ;

Narod, S. A. .

BRITISH JOURNAL OF CANCER, 2009, 100 (09) :1508-1512

[10] Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism [J].

Gryfe, R ;

Di Nicola, N ;

Lal, G ;

Gallinger, S ;

Redston, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) :378-384

← 1 2 3 4 5 6 →