Genetics and genomics are beginning to strongly influence the care of patients with GI conditions. From common disorders such as colorectal cancer, pancreatitis and multiple polyps; to rare conditions like hereditary hemorrhagic telangectasia, knowledge of genomic developments is increasingly highly useful to doctors and their patients. And in the research realm, genomic analyses are beginning to dissect the etiology of clinically important but enigmatic conditions such as irritable bowel syndrome. Genetics in Medicine, The American Journal of Gastroenterology and Clinical and Translational Gastroenterology have published seminal articles exploring new genomic findings in clinical practice and in research. GIM, AJG and CTG will continue to keep readers up to date in this fast-moving field with reports that matter to the practicing gastroenterologist and to researchers.


GIM articles

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer FREE

Maegan E Roberts, Sarah A Jackson, Lisa R Susswein, Nur Zeinomar, Xinran Ma, Megan L Marshall, Amy R Stettner, Becky Milewski, Zhixiong Xu, Benjamin D Solomon, Mary Beth Terry, Kathleen S Hruska, Rachel T Klein and Wendy K Chung

GENETICS in MEDICINE; Published online, 18 January 2018; doi:10.1038/gim.2017.254

Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations FREE

Marco Di Marco, Elvira D'Andrea, Nikola Panic, Valentina Baccolini, Giuseppe Migliara, Carolina Marzuillo, Corrado De Vito, Roberta Pastorino, Stefania Boccia and Paolo Villari

GENETICS in MEDICINE; Published online, 04 January 2018; doi:10.1038/gim.2017.244

Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?

Anne-Marie Laberge

Genetics in Medicine; Published online, 19 October 2017; doi:10.1038/gim.2017.161

RET somatic mutations are underrecognized in Hirschsprung disease

Qian Jiang, Fang Liu, Chunyue Miao, Qi Li, Zhen Zhang, Ping Xiao, Lin Su, Kaihui Yu, Xiaoli Chen, Feng Zhang, Aravinda Chakravarti and Long Li

Genetics in Medicine; Published online, 26 October 2017; doi:10.1038/gim.2017.178

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

Daniel D Buchanan, Jenna R Stewart, Mark Clendenning, Christophe Rosty, Khalid Mahmood, Bernard J Pope, Mark A Jenkins, John L Hopper, Melissa C Southey, Finlay A Macrae, Ingrid M Winship and Aung Ko Win

GENETICS in MEDICINE; Published online, 09 November 2017; doi:10.1038/gim.2017.185

How genetic testing can lead to targeted management of XIAP deficiency–related inflammatory bowel disease FREE

Ole Haagen Nielsen and Eric Charles LaCasse

Genetics in Medicine 19: 133-143; Published online, 14 July 2016; doi:10.1038/gim.2016.82

Modeling the prevention of colorectal cancer from the combined impact of host and behavioral risk factors FREE

Matthew Frampton and Richard S. Houlston

Genetics in Medicine 19: 314-321; Published online, 04 August 2016; doi:10.1038/gim.2016.101

Universal tumor screening for Lynch syndrome: health-care providers’ perspectives

Yvonne Bombard, Linda Rozmovits, Anne Sorvari, Corinne Daly, June C. Carroll, Erin Kennedy, Linda Rabeneck and Nancy N. Baxter

Genetics in Medicine 19: 568-574; Published online, 06 October 2016; doi:10.1038/gim.2016.150

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data FREE

Daniel F. Wallace and V. Nathan Subramaniam

Genetics in Medicine 18: 618-626; Published online, 03 December 2015; doi:10.1038/gim.2015.140

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 FREE

Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés-Mas, Matilde Navarro, Diana A. Puente, Tirso Pons, Sara González, Silvia Iglesias, Esther Darder, Virginia Piñol, José Luís Soto, Alfonso Valencia, Ignacio Blanco, Miguel Urioste, Joan Brunet, Conxi Lázaro, Gabriel Capellá, Xose S. Puente and Laura Valle

Genetics in Medicine 18: 325-332; Published online, 02 July 2015; doi:10.1038/gim.2015.75

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers FREE

Manon Suerink, Heleen M. van der Klift, Sanne W. ten Broeke, Olaf M. Dekkers, Inge Bernstein, Gabriel Capellá Munar, Encarna Gomez Garcia, Nicoline Hoogerbrugge, Tom G. W. Letteboer, Fred H. Menko, Annika Lindblom, Arjen Mensenkamp, Pal Moller, Theo A. van Os, Nils Rahner, Bert J. W. Redeker, Maran Olderode, Liesbeth Spruijt, Yvonne J. Vos, Anja Wagner, Hans Morreau, Frederik J. Hes, Hans F. A. Vasen, Carli M. Tops, Juul T. Wijnen and Maartje Nielsen

Genetics in Medicine 18: 405-409; Published online, 25 June 2015; doi:10.1038/gim.2015.83

PMS2 monoallelic mutation carriers: the known unknown FREE

McKinsey L. Goodenberger, Brittany C. Thomas, Douglas Riegert-Johnson, C. Richard Boland, Sharon E. Plon, Mark Clendenning, Aung Ko Win, Leigha Senter, Steven M. Lipkin, Zsofia K. Stadler, Finlay A. Macrae, Henry T. Lynch, Jeffrey N. Weitzel, Albert de la Chapelle, Sapna Syngal, Patrick Lynch, Susan Parry, Mark A. Jenkins, Steven Gallinger, Spring Holter, Melyssa Aronson, Polly A. Newcomb, Terrilea Burnett, Loïc Le Marchand, Pavel Pichurin, Heather Hampel, Jonathan P. Terdiman, Karen H. Lu, Stephen Thibodeau and Noralane M. Lindor

Genetics in Medicine 18: 13-19; Published online, 09 April 2015; doi:10.1038/gim.2015.27

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study FREE

Mei W. Baker, Anne E. Atkins, Suzanne K. Cordovado, Miyono Hendrix, Marie C. Earley and Philip M. Farrell

Genetics in Medicine 18: 231-238; Published online, 12 February 2015; doi:10.1038/gim.2014.209

Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing FREE

Jennifer A. Inra, Ewout W. Steyerberg, Shilpa Grover, Ashley McFarland, Sapna Syngal and Fay Kastrinos

Genetics in Medicine 17: 815-821; Published online, 15 January 2015; doi:10.1038/gim.2014.199

Family history and the natural history of colorectal cancer: systematic review FREE

Nora B. Henrikson, Elizabeth M. Webber, Katrina A. Goddard, Aaron Scrol, Margaret Piper, Marc S. Williams, Doris T. Zallen, Ned Calonge, Theodore G. Ganiats, A. Cecile J.W. Janssens, Ann Zauber, Iris Lansdorp-Vogelaar, Marjolein van Ballegooijen and Evelyn P. Whitlock

Genetics in Medicine 17: 702-712; Published online, 15 January 2015; doi:10.1038/gim.2014.188

Is it all Lynch syndrome?: An assessment of family history in individuals with mismatch repair–deficient tumors FREE

Katherine M. Dempsey, Russell Broaddus, Y. Nancy You, Sarah Jane Noblin, Maureen Mork, Bryan Fellman, Diana Urbauer, Molly Daniels and Karen Lu

Genetics in Medicine 17: 476-484; Published online, 23 October 2014; doi:10.1038/gim.2014.131

Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regulator of neurogenesis in the human enteric nervous system FREE

Ana Torroglosa, María Valle Enguix-Riego, Raquel María Fernández, Francisco José Román-Rodriguez, María José Moya-Jiménez, Juan Carlos de Agustín, Guillermo Antiñolo and Salud Borrego

Genetics in Medicine 16: 703-710; Published online, 27 February 2014; doi:10.1038/gim.2014.17


AJG articles

A Genetic Variation in the Neonatal Fc-Receptor Affects Anti-TNF Drug Concentrations in Inflammatory Bowel Disease

Thomas Billiet, Erwin Dreesen, Isabelle Cleynen, Willem-Jan Wollants, Marc Ferrante, Gert Van Assche, Ann Gils and Severine Vermeire

The American Journal of Gastroenterology 111: 1438-1445; Published online, 02 August 2016; doi:10.1038/ajg.2016.306

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium

Melyssa Aronson, Steven Gallinger, Zane Cohen, Shlomi Cohen, Rina Dvir, Ronit Elhasid, Hagit N Baris, Revital Kariv, Harriet Druker, Helen Chan, Simon C Ling, Paul Kortan, Spring Holter, Kara Semotiuk, David Malkin, Roula Farah, Alain Sayad, Brandie Heald, Matthew F Kalady, Lynette S Penney, Andrea L Rideout, Mohsin Rashid, Linda Hasadsri, Pavel Pichurin, Douglas Riegert-Johnson, Brittany Campbell, Doua Bakry, Hala Al-Rimawi, Qasim Kholaif Alharbi, Musa Alharbi, Ashraf Shamvil, Uri Tabori and Carol Durno

The American Journal of Gastroenterology 111: 275-284; Published online, 05 January 2016; doi:10.1038/ajg.2015.392

Knowledge and Uptake of Genetic Counseling and Colonoscopic Screening Among Individuals at Increased Risk for Lynch Syndrome and their Endoscopists from the Family Health Promotion Project

Swati G Patel, Dennis J Ahnen, Anita Y Kinney, Nora Horick, Dianne M Finkelstein, Deirdre A Hill, Noralane M Lindor, Finlay MaCrae and Jan T Lowery

The American Journal of Gastroenterology 111: 285-293; Published online, 09 February 2016; doi:10.1038/ajg.2015.397

Long-Term Loss of Response in Proton Pump Inhibitor-Responsive Esophageal Eosinophilia Is Uncommon and Influenced by CYP2C19 Genotype and Rhinoconjunctivitis

Javier Molina-Infante, Joaquin Rodriguez-Sanchez, Jan Martinek, Bram D van Rhijn, Jana Krajciova, Maria D Rivas, Jesus Barrio, Fouad J Moawad, Carmen Martinez-Alcalá, Albert J Bredenoord, Jose Zamorano and Evan S Dellon

The American Journal of Gastroenterology 110: 1567-1575; Published online, 29 September 2015; doi:10.1038/ajg.2015.314

SOX2 as a Novel Marker to Predict Neoplastic Progression in Barrett’s Esophagus

Sophie van Olphen, Katharina Biermann, Manon C W Spaander, Florine Kastelein, Ewout W Steyerberg, Hans A Stoop, Marco J Bruno and Leendert H J Looijenga

The American Journal of Gastroenterology 110: 1420-1428; Published online, 01 September 2015; doi:10.1038/ajg.2015.260

Genetic Markers Predict Primary Non-Response and Durable Response To Anti-TNF Biologic Therapies in Crohn’s Disease

Grant E Barber, Vijay Yajnik, Hamed Khalili, Cosmas Giallourakis, John Garber, Ramnik Xavier and Ashwin N Ananthakrishnan

The American Journal of Gastroenterology 111: 1816-1822; Published online, 06 September 2016; doi:10.1038/ajg.2016.408

Biomarkers in Search of Precision Medicine in IBD

Ray K Boyapati, Rahul Kalla, Jack Satsangi and Gwo-tzer Ho

The American Journal of Gastroenterology 111: 1682-1690; Published online, 27 September 2016; doi:10.1038/ajg.2016.441

ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

Sapna Syngal, Randall E Brand, James M Church, Francis M Giardiello, Heather L Hampel and Randall W Burt

The American Journal of Gastroenterology 110: 223-262; Published online, 03 February 2015; doi:10.1038/ajg.2014.435

Survival in stage II/III colorectal cancer is independently predicted by chromosomal and microsatellite instability, but not by specific driver mutations FREE

Dmitri Mouradov, Enric Domingo, Peter Gibbs, Robert N Jorissen, Shan Li, Pik Ying Soo, Lara Lipton, Jayesh Desai, Havard E Danielsen, Dahmane Oukrif, Marco Novelli, Christopher Yau, Christopher C Holmes, Ian T Jones, Stephen McLaughlin, Peter Molloy, Nicholas J Hawkins, Robyn Ward, Rachel Midgely, David Kerr, Ian PM Tomlinson and Oliver M Sieber

The American Journal of Gastroenterology 108: 1785-1793; Published online, 17 September 2013; doi:10.1038/ajg.2013.292

Identification of a Functional TPH1 Polymorphism Associated With Irritable Bowel Syndrome Bowel Habit Subtypes

Helmut Grasberger, Lin Chang, Wendy Shih, Angela P Presson, Gregory S Sayuk, Rodney D Newberry, Iordanis Karagiannides, Charalabos Pothoulakis, Emeran Mayer and Juanita L Merchant

The American Journal of Gastroenterology 108: 1766-1774; Published online, 24 September 2013; doi:10.1038/ajg.2013.304

Differential Effect of Genetic Burden on Disease Phenotypes in Crohn's Disease and Ulcerative Colitis: Analysis of a North American Cohort

Ashwin N Ananthakrishnan, Hailiang Huang, Deanna D Nguyen, Jenny Sauk, Vijay Yajnik and Ramnik J Xavier

The American Journal of Gastroenterology 109: 395-400; Published online, 14 January 2014; doi:10.1038/ajg.2013.464

Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

Francis M Giardiello, John I Allen, Jennifer E Axilbund, C Richard Boland, Carol A Burke, Randall W Burt, James M Church, Jason A Dominitz, David A Johnson, Tonya Kaltenbach, Theodore R Levin, David A Lieberman, Douglas J Robertson, Sapna Syngal and Douglas K Rex

The American Journal of Gastroenterology 109: 1159-1179; Published online, 22 July 2014; doi:10.1038/ajg.2014.186


CTG articles

Genetic Associations of Obesity: The Fat-Mass and Obesity-Associated (FTO) Gene FREE

Adam C Ehrlich and Frank K Friedenberg

Clinical and Translational Gastroenterology 7: e140-; Published online, 28 January 2016; doi:10.1038/ctg.2016.1

Tracking the Correlation Between CpG Island Methylator Phenotype and Other Molecular Features and Clinicopathological Features in Human Colorectal Cancers: A Systematic Review and Meta-Analysis FREE

Liang Zong, Masanobu Abe, Jiafu Ji, Wei-Guo Zhu and Duonan Yu

Clinical and Translational Gastroenterology 7: e151-; Published online, 10 March 2016; doi:10.1038/ctg.2016.14

Clinical Genetic Testing in Gastroenterology FREE

Russell P Goodman and Daniel C Chung

Clinical and Translational Gastroenterology 7: e167-; Published online, 28 April 2016; doi:10.1038/ctg.2016.23

Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci FREE

Antonio F Di Narzo, Lauren A Peters, Carmen Argmann, Aleksandar Stojmirovic, Jacqueline Perrigoue, Katherine Li, Shannon Telesco, Brian Kidd, Jennifer Walker, Joel Dudley, Judy Cho, Eric E Schadt, Andrew Kasarskis, Mark Curran, Radu Dobrin and Ke Hao

Clinical and Translational Gastroenterology 7: e177-; Published online, 23 June 2016; doi:10.1038/ctg.2016.34

Influence of Genetic Polymorphisms in Prostaglandin E2 Pathway (COX-2/HPGD/SLCO2A1/ABCC4) on the Risk for Colorectal Adenoma Development and Recurrence after Polypectomy FREE

Carina Pereira, Sara Queirós, Ana Galaghar, Hugo Sousa, Ricardo Marcos-Pinto, Pedro Pimentel-Nunes, Catarina Brandão, Rui Medeiros and Mário Dinis-Ribeiro

Clinical and Translational Gastroenterology 7: e191-; Published online, 15 September 2016; doi:10.1038/ctg.2016.47

BARHL2 Methylation Using Gastric Wash DNA or Gastric Juice Exosomal DNA is a Useful Marker For Early Detection of Gastric Cancer in an H. pylori-Independent Manner FREE

Hiroyuki Yamamoto, Yoshiyuki Watanabe, Ritsuko Oikawa, Ryo Morita, Yoshihito Yoshida, Tadateru Maehata, Hiroshi Yasuda and Fumio Itoh

Clinical and Translational Gastroenterology 7: e184-; Published online, 21 July 2016; doi:10.1038/ctg.2016.40

Time Lapse to Colorectal Cancer: Telomere Dynamics Define the Malignant Potential of Polyps FREE

Brooke R Druliner, Xiaoyang Ruan, Ruth Johnson, Diane Grill, Daniel O'Brien, Tsung-Po Lai, Shahrooz Rashtak, Donna Felmlee-Devine, Jill Washechek-Aletto, Andrei Malykh, Thomas Smyrk, Ann Oberg, Hongfang Liu, Jerry W Shay, David A Ahlquist and Lisa A Boardman

Clinical and Translational Gastroenterology 7: e188-; Published online, 01 September 2016; doi:10.1038/ctg.2016.48

Significant Evidence of Linkage for a Gene Predisposing to Colorectal Cancer and Multiple Primary Cancers on 22q11 FREE

Craig Teerlink, Quentin Nelson, Randall Burt and Lisa Cannon-Albright

Clinical and Translational Gastroenterology 5: e50-; Published online, 27 February 2014; doi:10.1038/ctg.2014.1

The Association of Telomere Length with Colorectal Cancer Differs by the Age of Cancer Onset FREE

Lisa A Boardman, Kristin Litzelman, Songwon Seo, Ruth A Johnson, Russell J Vanderboom, Grace W Kimmel, Julie M Cunningham, Ronald E Gangnon, Corinne D Engelman, Douglas L Riegert-Johnson, John Potter, Robert Haile, Daniel Buchanan, Mark A Jenkins, David N Rider, Stephen N Thibodeau, Gloria M Petersen and Halcyon G Skinner

Clinical and Translational Gastroenterology 5: e52-; Published online, 06 March 2014; doi:10.1038/ctg.2014.3

The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population FREE

Jessica LaRusch, Antonio Lozano-Leon, Kimberly Stello, Amanda Moore, Venkata Muddana, Michael O’Connell, Brenda Diergaarde, Dhiraj Yadav and David C Whitcomb

Clinical and Translational Gastroenterology 6: e68-; Published online, 08 January 2015; doi:10.1038/ctg.2014.13

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