Gastroenterology

Systems approach to enhance Lynch syndrome diagnosis through tumour testing
Vinit Singh, Catherine Mezzacappa, Peter Gershkovich, Jessica Di Giovanna, Amanda Ganzak, Joanna Gibson, John Sinard, Rosa M Xicola, Xavier Llor

Journal of Medical Genetics Sep 2022, jmg-2022-108770; DOI: 10.1136/jmg-2022-108770
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants
Marie Coudert, Youenn Drouet, Hélène Delhomelle, Magali Svrcek, Patrick R Benusiglio, Florence Coulet, Dana Farengo Clark, Bryson W Katona, Liselotte P van Hest, Lizet E van der Kolk, Annemieke Cats, Jolanda M van Dieren, Bita Nehoray, Thomas Slavin, Isabel Spier, Robert Hüneburg, Silvana Lobo, Carla Oliveira, Lise Boussemart, Laure Masson, Jean Chiesa, Mathias Schwartz, Bruno Buecher, Lisa Golmard, Anne-Marie Bouvier, Valérie Bonadona, Dominique Stoppa-lyonnet, Christine Lasset, Chrystelle Colas

Journal of Medical Genetics Aug 2022, jmedgenet-2022-108740; DOI: 10.1136/jmg-2022-108740
CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome
Giovanni Corso, Francesca Magnoni, Giulia Massari, Cristina Maria Trovato, Alessandra Margherita De Scalzi, Elisa Vicini, Bernardo Bonanni, Paolo Veronesi, Viviana Galimberti, Vincenzo Bagnardi

Journal of Medical Genetics Apr 2022, 59 (4) 313-317; DOI: 10.1136/jmedgenet-2021-108226
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel
Wu Jiang, Lin Li, Chuan-Feng Ke, Wei Wang, Bin-Yi Xiao, Ling-Heng Kong, Jing-Hua Tang, Yuan Li, Xiao-Dan Wu, Ying Hu, Wei-Hua Guo, Si-Zhen Wang, De-Sen Wan, Rui-Hua Xu, Zhi-Zhong Pan, Pei-Rong Ding

Journal of Medical Genetics Apr 2022, 59 (4) 370-376; DOI: 10.1136/jmedgenet-2020-107230
TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
Julien H Park, Jiraporn Ousingsawat, Inês Cabrita, Ruth E Bettels, Jörg Große-Onnebrink, Christian Schmalstieg, Saskia Biskup, Janine Reunert, Stephan Rust, Rainer Schreiber, Karl Kunzelmann, Thorsten Marquardt

Journal of Medical Genetics Apr 2021, 58 (4) 247-253; DOI: 10.1136/jmedgenet-2020-106978
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
Kasper A Overbeek, Mar DM Rodríguez-Girondo, Anja Wagner, Nienke van der Stoep, Peter C van den Akker, Jan C Oosterwijk, Theo A van Os, Lizet E van der Kolk, Hans F A Vasen, Frederik J Hes, Djuna L Cahen, Marco J Bruno, Thomas P Potjer

Journal of Medical Genetics Apr 2021, 58 (4) 264-269; DOI: 10.1136/jmedgenet-2019-106562
MicroRNA-4516-mediated regulation of MAPK10 relies on 3′ UTR cis-acting variants and contributes to the altered risk of Hirschsprung disease
Yang Wang, Qian Jiang, Aravinda Chakravarti, Hao Cai, Ze Xu, Wenjie Wu, Beilin Gu, Long Li, Wei Cai

Journal of Medical Genetics Sep 2020, 57 (9) 634-642; DOI: 10.1136/jmedgenet-2019-106615
Variant in C-terminal region of intestinal alkaline phosphatase associated with benign familial hyperphosphatasaemia
Takayuki Ishige, Sakae Itoga, Emi Utsuno, Motoi Nishimura, Masaharu Yoshikawa, Naoya Kato, Kazuyuki Matsushita, Osamu Yokosuka, Fumio Nomura

Journal of Medical Genetics Oct 2018, 55 (10) 701-704; DOI: 10.1136/jmedgenet-2017-104964
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
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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