Cancer: colon

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group
Amy Taylor, Angela F Brady, Ian M Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side

Journal of Medical Genetics Jun 2018, 55 (6) 372-377; DOI: 10.1136/jmedgenet-2017-105188
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity
Shuwei Li, Dajun Qian, Bryony A Thompson, Stephanie Gutierrez, Sitao Wu, Tina Pesaran, Holly LaDuca, Hsiao-Mei Lu, Elizabeth C Chao, Mary Helen Black

Journal of Medical Genetics Jan 2020, 57 (1) 62-69; DOI: 10.1136/jmedgenet-2019-106096
Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation
Monika Morak, Ayseguel Ibisler, Gisela Keller, Ellen Jessen, Andreas Laner, Daniela Gonzales-Fassrainer, Melanie Locher, Trisari Massdorf, Anke M Nissen, Anna Benet-Pagès, Elke Holinski-Feder

Journal of Medical Genetics Apr 2018, 55 (4) 240-248; DOI: 10.1136/jmedgenet-2017-104744
Outcome of 24 years national surveillance in different hereditary colorectal cancer subgroups leading to more individualised surveillance
Lars Joachim Lindberg, Steen Ladelund, Birgitte Lidegaard Frederiksen, Lars Smith-Hansen, Inge Bernstein

Journal of Medical Genetics May 2017, 54 (5) 297-304; DOI: 10.1136/jmedgenet-2016-104284
Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Adela Castillejo, Eva Hernández-Illán, María Rodriguez-Soler, Lucía Pérez-Carbonell, Cecilia Egoavil, Victor M Barberá, María-Isabel Castillejo, Carla Guarinos, Eduardo Martínez-de-Dueñas, María-Jose Juan, Ana-Beatriz Sánchez-Heras, Zaida García-Casado, Clara Ruiz-Ponte, Alejandro Brea-Fernández, Miriam Juárez, Luis Bujanda, Juan Clofent, Xavier Llor, Montserrat Andreu, Antoni Castells, Angel Carracedo, Cristina Alenda, Artemio Payá, Rodrigo Jover, José-Luis Soto

Journal of Medical Genetics Jul 2015, 52 (7) 498-502; DOI: 10.1136/jmedgenet-2015-103076
HSP110 T17 simplifies and improves the microsatellite instability testing in patients with colorectal cancer
Olivier Buhard, Anaïs Lagrange, Agathe Guilloux, Chrystelle Colas, Mouna Chouchène, Kristell Wanherdrick, Florence Coulet, Erell Guillerm, Coralie Dorard, Laetitia Marisa, Adem Bokhari, Malorie Greene, Nizar El-Murr, Sahra Bodo, Martine Muleris, Isabelle Sourouille, Magali Svrcek, Pascale Cervera, Hélène Blanché, Jérémie H Lefevre, Yann Parc, Come Lepage, Caroline Chapusot, Anne-Marie Bouvier, Marie-Pierre Gaub, Janick Selves, Kerryn Garrett, Barry Iacopetta, Richie Soong, Richard Hamelin, Carmen Garrido, Olivier Lascols, Thierry André, Jean-François Fléjou, Ada Collura, Alex Duval

Journal of Medical Genetics Jun 2016, 53 (6) 377-384; DOI: 10.1136/jmedgenet-2015-103518
Novel role for non-homologous end joining in the formation of double minutes in methotrexate-resistant colon cancer cells
Xiangning Meng, Xiuying Qi, Huanhuan Guo, Mengdi Cai, Chunxiang Li, Jing Zhu, Feng Chen, Huan Guo, Jie Li, Yuzhen Zhao, Peng Liu, Xueyuan Jia, Jingcui Yu, Chunyu Zhang, Wenjing Sun, Yang Yu, Yan Jin, Jing Bai, Mingrong Wang, Jesusa Rosales, Ki-Young Lee, Songbin Fu

Journal of Medical Genetics Feb 2015, 52 (2) 135-144; DOI: 10.1136/jmedgenet-2014-102703
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair
Eva AL Wielders, Jan Hettinger, Rob Dekker, C Marleen Kets, Marjolijn J Ligtenberg, Arjen R Mensenkamp, Ans MW van den Ouweland, Judith Prins, Anja Wagner, Winand NM Dinjens, Hendrikus Jan Dubbink, Liselotte P van Hest, Fred Menko, Frans Hogervorst, Senno Verhoef, Hein te Riele

Journal of Medical Genetics Apr 2014, 51 (4) 245-253; DOI: 10.1136/jmedgenet-2013-101987
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis
Frederik J Hes, Dina Ruano, Marry Nieuwenhuis, Carli M Tops, Melanie Schrumpf, Maartje Nielsen, Petra E A Huijts, Juul T Wijnen, Anja Wagner, Encarna B Gómez García, Rolf H Sijmons, Fred H Menko, Tom G W Letteboer, Nicoline Hoogerbrugge, Jan Harryvan, Ellen Kampman, Hans Morreau, Hans F A Vasen, Tom van Wezel

Journal of Medical Genetics Jan 2014, 51 (1) 55-60; DOI: 10.1136/jmedgenet-2013-102000
Inherited predisposition to colorectal cancer: towards a more complete picture
Emma Short, Laura E Thomas, Joanna Hurley, Sian Jose, Julian R Sampson

Journal of Medical Genetics Dec 2015, 52 (12) 791-796; DOI: 10.1136/jmedgenet-2015-103298

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