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Select item 36473581.

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

Hans F A Vasen, Ignacio Blanco, Katja Aktan-Collan, Jessica P Gopie, Angel Alonso, Stefan Aretz, Inge Bernstein, Lucio Bertario, John Burn, Gabriel Capella, Chrystelle Colas, Christoph Engel, Ian M Frayling, Maurizio Genuardi, Karl Heinimann, Frederik J Hes, Shirley V Hodgson, John A Karagiannis, Fiona Lalloo, Annika Lindblom, Jukka-Pekka Mecklin, Pal Møller, Torben Myrhoj, Fokko M Nagengast, Yann Parc, Maurizio Ponz de Leon, Laura Renkonen-Sinisalo, Julian R Sampson, Astrid Stormorken, Rolf H Sijmons, Sabine Tejpar, Huw J W Thomas, Nils Rahner, Juul T Wijnen, Heikki Juhani Järvinen, Gabriela Möslein, (the Mallorca group)

Gut. 2013 Jun; 62(6): 812–823. Published online 2013 Feb 13. doi: 10.1136/gutjnl-2012-304356

PMCID:: PMC3647358

Abstract Article PDF–291K

Select item 60758602.

Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017

Veda N. Giri, Karen E. Knudsen, William K. Kelly, Wassim Abida, Gerald L. Andriole, Chris H. Bangma, Justin E. Bekelman, Mitchell C. Benson, Amie Blanco, Arthur Burnett, William J. Catalona, Kathleen A. Cooney, Matthew Cooperberg, David E. Crawford, Robert B. Den, Adam P. Dicker, Scott Eggener, Neil Fleshner, Matthew L. Freedman, Freddie C. Hamdy, Jean Hoffman-Censits, Mark D. Hurwitz, Colette Hyatt, William B. Isaacs, Christopher J. Kane, Philip Kantoff, R. Jeffrey Karnes, Lawrence I. Karsh, Eric A. Klein, Daniel W. Lin, Kevin R. Loughlin, Grace Lu-Yao, S. Bruce Malkowicz, Mark J. Mann, James R. Mark, Peter A. McCue, Martin M. Miner, Todd Morgan, Judd W. Moul, Ronald E. Myers, Sarah M. Nielsen, Elias Obeid, Christian P. Pavlovich, Stephen C. Peiper, David F. Penson, Daniel Petrylak, Curtis A. Pettaway, Robert Pilarski, Peter A. Pinto, Wendy Poage, Ganesh V. Raj, Timothy R. Rebbeck, Mark E. Robson, Matt T. Rosenberg, Howard Sandler, Oliver Sartor, Edward Schaeffer, Gordon F. Schwartz, Mark S. Shahin, Neal D. Shore, Brian Shuch, Howard R. Soule, Scott A. Tomlins, Edouard J. Trabulsi, Robert Uzzo, Donald J. Vander Griend, Patrick C. Walsh, Carol J. Weil, Richard Wender, Leonard G. Gomella

J Clin Oncol. 2018 Feb 1; 36(4): 414–424. Published online 2017 Dec 13. doi: 10.1200/JCO.2017.74.1173

PMCID:: PMC6075860

Abstract Article PDF–833K

Select item 112080733.

Consenso colombiano para el diagnóstico molecular del cáncer de endometrio

Marc Edy Pierre, MD, Angélica Viviana Fletcher Prieto, MD, Juliana Rodríguez, MD MSc, Abraham Hernández Blanquisett, MD, Ana Milena Gómez Camacho, MD, Rafael Parra Medina, MD, PhD, Lucrecia Mojica Silva, MD, Robinson Fernández, MD, MSc, Pedro Hernando Calderón Quiroz, MD

Rev Colomb Obstet Ginecol. 2024 Mar; 75(1): 4060. Spanish. Published online 2024 Jun 17. doi: 10.18597/rcog.4060

PMCID:: PMC11208073

Abstract Article PDF–724K

Select item 65538034.

Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer

Alicia Latham, Preethi Srinivasan, Yelena Kemel, Jinru Shia, Chaitanya Bandlamudi, Diana Mandelker, Sumit Middha, Jaclyn Hechtman, Ahmet Zehir, Marianne Dubard-Gault, Christina Tran, Carolyn Stewart, Margaret Sheehan, Alexander Penson, Deborah DeLair, Rona Yaeger, Joseph Vijai, Semanti Mukherjee, Jesse Galle, Mark A. Dickson, Yelena Janjigian, Eileen M. O’Reilly, Neil Segal, Leonard B. Saltz, Diane Reidy-Lagunes, Anna M. Varghese, Dean Bajorin, Maria I. Carlo, Karen Cadoo, Michael F. Walsh, Martin Weiser, Julio Garcia Aguilar, David S. Klimstra, Luis A. Diaz, Jr, Jose Baselga, Liying Zhang, Marc Ladanyi, David M. Hyman, David B. Solit, Mark E. Robson, Barry S. Taylor, Kenneth Offit, Michael F. Berger, Zsofia K. Stadler

J Clin Oncol. 2019 Feb 1; 37(4): 286–295. Published online 2018 Oct 30. doi: 10.1200/JCO.18.00283

Correction in:: J Clin Oncol. 2019 Apr 10; 37(11): 942.

PMCID:: PMC6553803

Abstract Article PDF–1.4M

Select item 346405.

Tolerance of human MSH2^+/− lymphoblastoid cells to the methylating agent temozolomide

Giancarlo Marra, Stefania D'Atri, Chantal Corti, Laura Bonmassar, Maria Sofia Cattaruzza, Pascal Schweizer, Karl Heinimann, Zdena Bartosova, Minna Nyström-Lahti, Josef Jiricny

Proc Natl Acad Sci U S A. 2001 Jun 19; 98(13): 7164–7169. doi: 10.1073/pnas.121136498

PMCID:: PMC34640

Abstract Article PDF–322K

Select item 68888556.

Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome

S. Ghazaleh Dashti, Wing Yan Li, Daniel D. Buchanan, Mark Clendenning, Christophe Rosty, Ingrid M. Winship, Finlay A. Macrae, Graham G. Giles, Sheetal Hardikar, Xinwei Hua, Stephen N. Thibodeau, Jane C. Figueiredo, Graham Casey, Robert W. Haile, Steven Gallinger, Loïc Le Marchand, Polly A. Newcomb, John D. Potter, Noralane M. Lindor, John L. Hopper, Mark A. Jenkins, Aung Ko Win

Br J Cancer. 2019 Nov 12; 121(10): 869–876. Published online 2019 Sep 25. doi: 10.1038/s41416-019-0580-9

PMCID:: PMC6888855

Abstract Article PDF–351K

Select item 40093727.

Communication of Genetic Test Results to Family and Health Care Providers Following Disclosure of Research Results

Kristi D. Graves, Pamela S. Sinicrope, Mary Jane Esplen, Susan K. Peterson, Christi A. Patten, Jan Lowery, Frank A. Sinicrope, Sandra K. Nigon, Joyce Borgen, Sherri Sheinfeld Gorin, Louise A. Keogh, Noralane M. Lindor

Genet Med. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Genet Med. 2014 Apr; 16(4): 294–301. Published online 2013 Oct 3. doi: 10.1038/gim.2013.137

PMCID:: PMC4009372

Abstract Article PDF–586K

Select item 40218498.

BRAFV600E immunohistochemistry in conjunction with mismatch repair status predicts survival in patients with colorectal cancer

Christopher W Toon, Angela Chou, Keshani DeSilva, Joseph Chan, Jillian Patterson, Adele Clarkson, Loretta Sioson, Lucy Jankova, Anthony J Gill

Mod Pathol. 2014 May; 27(5): 644–650. Published online 2013 Oct 25. doi: 10.1038/modpathol.2013.200

PMCID:: PMC4021849

Abstract Article PDF–346K

Select item 59216999.

Microsatellite Instability and Frameshift Mutations in the Bax Gene in Hereditary Nonpolyposis Colorectal Carcinoma

Yukinori Sakao, Masahiro Noro, Shigeki Sekine, Mutsumi Nozue, Setsuo Hirohashi, Tsuyoshi Itoh, Masayuki Noguchi

Jpn J Cancer Res. 1998 Oct; 89(10): 1020–1027. doi: 10.1111/j.1349-7006.1998.tb00491.x

PMCID:: PMC5921699

Summary PDF–1.0M

Select item 584762510.

The 116G > A MSH6 and IVS1-1121C > T PMS2 Genes Polymorphisms Modulate the Risk of the Sporadic Colorectal Cancer Development in Polish Population

Piotr Zelga, Karolina Przybyłowska-Sygut, Marta Zelga, Adam Dziki, Ireneusz Majsterek

Pathol Oncol Res. 2018; 24(2): 231–235. Published online 2017 Apr 27. doi: 10.1007/s12253-017-0231-5

PMCID:: PMC5847625

Abstract Article PDF–349K

Select item 582428311.

Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies

Neil A. J. Ryan, Julie Morris, Kate Green, Fiona Lalloo, Emma R. Woodward, James Hill, Emma J. Crosbie, D. Gareth Evans

JAMA Oncol. 2017 Dec; 3(12): 1702–1706. Published online 2017 Aug 3. doi: 10.1001/jamaoncol.2017.0619

PMCID:: PMC5824283

Abstract Article

Select item 415550512.

Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

Taina T. Nieminen, Marie-Françoise O’Donohue, Yunpeng Wu, Hannes Lohi, Stephen W. Scherer, Andrew D. Paterson, Pekka Ellonen, Wael M. Abdel-Rahman, Satu Valo, Jukka-Pekka Mecklin, Heikki J. Järvinen, Pierre-Emmanuel Gleizes, Päivi Peltomäki

Gastroenterology. 2014 Sep; 147(3): 595–598.e5. doi: 10.1053/j.gastro.2014.06.009

PMCID:: PMC4155505

Abstract Article

Select item 417116413.

Involvement of Krüppel-like factor 6 (KLF6) mutation in the development of nonpolypoid colorectal carcinoma

Shinichi Mukai, Toru Hiyama, Shinji Tanaka, Masaharu Yoshihara, Koji Arihiro, Kazuaki Chayama

World J Gastroenterol. 2007 Aug 7; 13(29): 3932–3938. Published online 2007 Aug 7. doi: 10.3748/wjg.v13.i29.3932

PMCID:: PMC4171164

Abstract Article PDF–1.1M

Select item 990597014.

Body mass index and molecular subtypes of colorectal cancer

Neil Murphy, Christina C Newton, Mingyang Song, Nikos Papadimitriou, Michael Hoffmeister, Amanda I Phipps, Tabitha A Harrison, Polly A Newcomb, Elom K Aglago, Sonja I Berndt, Hermann Brenner, Daniel D Buchanan, Yin Cao, Andrew T Chan, Xuechen Chen, Iona Cheng, Jenny Chang-Claude, Niki Dimou, David Drew, Alton B Farris, Amy J French, Steven Gallinger, Peter Georgeson, Marios Giannakis, Graham G Giles, Stephen B Gruber, Sophia Harlid, Li Hsu, Wen-Yi Huang, Mark A Jenkins, Ruhina S Laskar, Loic Le Marchand, Paul Limburg, Yi Lin, Marko Mandic, Johnathan A Nowak, Mereia Obón-Santacana, Shuji Ogino, Conghui Qu, Lori C Sakoda, Robert E Schoen, Melissa C Southey, Zsofia K Stadler, Robert S Steinfelder, Wei Sun, Stephen N Thibodeau, Amanda E Toland, Quang M Trinh, Kostas K Tsilidis, Tomotaka Ugai, Bethany Van Guelpen, Xiaoliang Wang, Michael O Woods, Syed H Zaidi, Marc J Gunter, Ulrike Peters, Peter T Campbell

J Natl Cancer Inst. 2023 Feb; 115(2): 165–173. Published online 2022 Nov 29. doi: 10.1093/jnci/djac215

PMCID:: PMC9905970

Abstract Article PDF–1.1M

Select item 729273515.

Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

Aniruddh P. Patel, Minxian Wang, Akl C. Fahed, Heather Mason-Suares, Deanna Brockman, Renee Pelletier, Sami Amr, Kalotina Machini, Megan Hawley, Leora Witkowski, Christopher Koch, Anthony Philippakis, Christopher A. Cassa, Patrick T. Ellinor, Sekar Kathiresan, Kenney Ng, Matthew Lebo, Amit V. Khera

JAMA Netw Open. Author manuscript; available in PMC 2020 Jun 12.

Published in final edited form as: JAMA Netw Open. 2020 Apr 1; 3(4): e203959. Published online 2020 Apr 1. doi: 10.1001/jamanetworkopen.2020.3959

PMCID:: PMC7292735

Abstract Article PDF–928K

Select item 980847116.

Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center

L. Poliani, L. Greco, M. Barile, A. Dal Buono, P. Bianchi, G. Basso, V. Giatti, M. Genuardi, A. Malesci, L. Laghi, Alliance Against Cancer

ESMO Open. 2022 Dec; 7(6): 100607. Published online 2022 Nov 7. doi: 10.1016/j.esmoop.2022.100607

Correction in:: ESMO Open. 2023 Jun; 8(3): 101581.

PMCID:: PMC9808471

Abstract Article PDF–427K

Select item 430595217.

Clinicopathological and molecular genetic analysis of HNPCC in China

Ding-Cun Luo, Qi Cai, Meng-Hong Sun, Yao-Zhong Ni, Shi-Chang Ni, Zhe-Jing Chen, Xiao-Yang Li, Chong-Wei Tao, Xue-Miao Zhang, Da-Ren Shi

World J Gastroenterol. 2005 Mar 21; 11(11): 1673–1679. Published online 2005 Mar 21. doi: 10.3748/wjg.v11.i11.1673

PMCID:: PMC4305952

Abstract Article PDF–726K

Select item 443462818.

Three novel missense germline mutations in different exons of MSH6 gene in Chinese hereditary non-polyposis colorectal cancer families

Shi-Yan Yan, Xiao-Yan Zhou, Xiang Du, Tai-Ming Zhang, Yong-Ming Lu, San-Jun Cai, Xiao-Li Xu, Bao-Hua Yu, Heng-Hua Zhou, Da-Ren Shi

World J Gastroenterol. 2007 Oct 7; 13(37): 5021–5024. Published online 2007 Oct 7. doi: 10.3748/wjg.v13.i37.5021

PMCID:: PMC4434628

Abstract Article PDF–822K

Select item 446180619.

Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis

Carlos J. Gallego, Brian H. Shirts, Caroline S. Bennette, Greg Guzauskas, Laura M. Amendola, Martha Horike-Pyne, Fuki M. Hisama, Colin C. Pritchard, William M. Grady, Wylie Burke, Gail P. Jarvik, David L. Veenstra

J Clin Oncol. 2015 Jun 20; 33(18): 2084–2091. Published online 2015 May 4. doi: 10.1200/JCO.2014.59.3665

PMCID:: PMC4461806

Abstract Article PDF–185K

Select item 918171620.

Changes in the Transcriptome Caused by Mutations in the Ribosomal Protein uS10 Associated with a Predisposition to Colorectal Cancer

Yueming Tian, Elena S. Babaylova, Alexander V. Gopanenko, Alexey E. Tupikin, Marsel R. Kabilov, Alexey A. Malygin, Galina G. Karpova

Int J Mol Sci. 2022 Jun; 23(11): 6174. Published online 2022 May 31. doi: 10.3390/ijms23116174

PMCID:: PMC9181716

Abstract Article PDF–3.2M

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