Literature DB >> 30515673

Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.

Patrick R Benusiglio1,2, Chrystelle Colas3,4,5, Erell Guillerm6, Axelle Canard7, Hélène Delhomelle4, Mathilde Warcoin3, Jérôme Bellanger4,8, Mélanie Eyries6, Mohamed Zizi6, Jeanne Netter4, Florent Soubrier6,9, Yann Parc4,9, Anne Mourregot10, Aurélie Maran Gonzalez11, Veronica Cusin3,12, Jérôme A Denis6,9,13, Isabelle Coupier14, Magali Svrcek7,9, Florence Coulet6,9.   

Abstract

In 2017, we implemented CTNNA1 germline analysis in probands suspected of having hereditary diffuse gastric cancer. Here, we report the results from a retrospective series of 41 cases, including the identification of a new family with a CTNNA1 mutation and the first prophylactic total gastrectomy in an asymptomatic carrier after a normal upper endoscopy. Diffuse gastric cancer foci with loss of catenin alpha-1 expression were seen in the resected tissue, suggesting that CTNNA1 and CDH1 germline mutations behave in a similar manner. Life-changing prophylactic total gastrectomy should therefore also be considered in CTNNA1 mutation carriers.

Entities:  

Keywords:  CDH1; CTNNA1; Diffuse gastric cancer; Hereditary cancer; Signet-ring cell

Mesh：

Substances：

Year:  2018        PMID： 30515673     DOI： 10.1007/s10120-018-00907-7

Source DB:  PubMed          Journal:  Gastric Cancer        ISSN： 1436-3291            Impact factor:   7.370


  13 in total

1.  Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation.

Authors:  Patrick R Benusiglio; Chystelle Colas; Etienne Rouleau; Nancy Uhrhammer; Pierre Romero; Audrey Remenieras; Jessica Moretta; Qing Wang; Antoine De Pauw; Bruno Buecher; Dominique Stoppa-Lyonnet; Emmanuelle Mouret-Fourme; Catherine Noguès; Marina Di Maria; Camille Tlemsani; Mathilde Warcoin; Sophie Grandjouan; David Malka; Olivier Caron; Martine Blayau
Journal:  J Med Genet       Date:  2015-05-29       Impact factor: 6.318

2.  Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

Authors:  Samantha Hansford; Pardeep Kaurah; Hector Li-Chang; Michelle Woo; Janine Senz; Hugo Pinheiro; Kasmintan A Schrader; David F Schaeffer; Karey Shumansky; George Zogopoulos; Teresa Almeida Santos; Isabel Claro; Joana Carvalho; Cydney Nielsen; Sarah Padilla; Amy Lum; Aline Talhouk; Katie Baker-Lange; Sue Richardson; Ivy Lewis; Noralane M Lindor; Erin Pennell; Andree MacMillan; Bridget Fernandez; Gisella Keller; Henry Lynch; Sohrab P Shah; Parry Guilford; Steven Gallinger; Giovanni Corso; Franco Roviello; Carlos Caldas; Carla Oliveira; Paul D P Pharoah; David G Huntsman
Journal:  JAMA Oncol       Date:  2015-04       Impact factor: 31.777

3.  An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer.

Authors:  Ian J Majewski; Irma Kluijt; Annemieke Cats; Thomas S Scerri; Daphne de Jong; Roelof J C Kluin; Samantha Hansford; Frans B L Hogervorst; Astrid J Bosma; Ingrid Hofland; Marcel Winter; David Huntsman; Jos Jonkers; Melanie Bahlo; René Bernards
Journal:  J Pathol       Date:  2013-03       Impact factor: 7.996

4.  Abnormal expression of E-cadherin in early gastric carcinoma: its relationship with macroscopic growth patterns and catenin alpha and beta.

Authors:  Sang Yong Song; Seonwoo Kim; Dae Shick Kim; Hee Jung Son; Jong Chul Rhee; Yong Il Kim
Journal:  J Clin Gastroenterol       Date:  2004-03       Impact factor: 3.062

5.  Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications.

Authors:  William M Rogers; Erika Dobo; Jeffrey A Norton; Jacques Van Dam; R Brooke Jeffrey; David G Huntsman; Kerry Kingham; Nicki Chun; James M Ford; Teri A Longacre
Journal:  Am J Surg Pathol       Date:  2008-06       Impact factor: 6.394

6.  Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research.

Authors:  Rebecca C Fitzgerald; Richard Hardwick; David Huntsman; Fatima Carneiro; Parry Guilford; Vanessa Blair; Daniel C Chung; Jeff Norton; Krishnadath Ragunath; J Han Van Krieken; Sarah Dwerryhouse; Carlos Caldas
Journal:  J Med Genet       Date:  2010-07       Impact factor: 6.318

Review 7.  Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.

Authors:  Rachel S van der Post; Ingrid P Vogelaar; Fátima Carneiro; Parry Guilford; David Huntsman; Nicoline Hoogerbrugge; Carlos Caldas; Karen E Chelcun Schreiber; Richard H Hardwick; Margreet G E M Ausems; Linda Bardram; Patrick R Benusiglio; Tanya M Bisseling; Vanessa Blair; Eveline Bleiker; Alex Boussioutas; Annemieke Cats; Daniel Coit; Lynn DeGregorio; Joana Figueiredo; James M Ford; Esther Heijkoop; Rosella Hermens; Bostjan Humar; Pardeep Kaurah; Gisella Keller; Jennifer Lai; Marjolijn J L Ligtenberg; Maria O'Donovan; Carla Oliveira; Hugo Pinheiro; Krish Ragunath; Esther Rasenberg; Susan Richardson; Franco Roviello; Hans Schackert; Raquel Seruca; Amy Taylor; Anouk Ter Huurne; Marc Tischkowitz; Sheena Tjon A Joe; Benjamin van Dijck; Nicole C T van Grieken; Richard van Hillegersberg; Johanna W van Sandick; Rianne Vehof; J Han van Krieken; Rebecca C Fitzgerald
Journal:  J Med Genet       Date:  2015-05-15       Impact factor: 6.318

8.  Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status.

Authors:  Emma Z Mi; Ella Z Mi; Massimiliano di Pietro; Maria O'Donovan; Richard H Hardwick; Susan Richardson; Hisham Ziauddeen; Paul C Fletcher; Carlos Caldas; Marc Tischkowitz; Krish Ragunath; Rebecca C Fitzgerald
Journal:  Gastrointest Endosc       Date:  2017-07-06       Impact factor: 9.427

9.  Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Authors:  Ingrid P Vogelaar; Rachel S van der Post; J Han Jm van Krieken; Liesbeth Spruijt; Wendy Ag van Zelst-Stams; C Marleen Kets; Jan Lubinski; Anna Jakubowska; Urszula Teodorczyk; Cora M Aalfs; Liselotte P van Hest; Hugo Pinheiro; Carla Oliveira; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Joep de Ligt; Lisenka E L M Vissers; Alexander Hoischen; Christian Gilissen; Maartje van de Vorst; Jelle J Goeman; Hans K Schackert; Guglielmina N Ranzani; Valeria Molinaro; Encarna B Gómez García; Frederik J Hes; Elke Holinski-Feder; Maurizio Genuardi; Margreet G E M Ausems; Rolf H Sijmons; Anja Wagner; Lizet E van der Kolk; Inga Bjørnevoll; Hildegunn Høberg-Vetti; Ad Geurts van Kessel; Roland P Kuiper; Marjolijn J L Ligtenberg; Nicoline Hoogerbrugge
Journal:  Eur J Hum Genet       Date:  2017-09-06       Impact factor: 4.246

10.  Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

Authors:  Robbert D A Weren; Rachel S van der Post; Ingrid P Vogelaar; J Han van Krieken; Liesbeth Spruijt; Jan Lubinski; Anna Jakubowska; Urszula Teodorczyk; Cora M Aalfs; Liselotte P van Hest; Carla Oliveira; Eveline J Kamping; Hans K Schackert; Guglielmina N Ranzani; Encarna B Gómez García; Frederik J Hes; Elke Holinski-Feder; Maurizio Genuardi; Margreet G E M Ausems; Rolf H Sijmons; Anja Wagner; Lizet E van der Kolk; Annemieke Cats; Inga Bjørnevoll; Nicoline Hoogerbrugge; Marjolijn J L Ligtenberg
Journal:  J Med Genet       Date:  2018-01-12       Impact factor: 6.318
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  4 in total

Review 1.  Hereditary diffuse gastric cancer: updated clinical practice guidelines.

Authors:  Vanessa R Blair; Maybelle McLeod; Fátima Carneiro; Daniel G Coit; Johanna L D'Addario; Jolanda M van Dieren; Kirsty L Harris; Nicoline Hoogerbrugge; Carla Oliveira; Rachel S van der Post; Julie Arnold; Patrick R Benusiglio; Tanya M Bisseling; Alex Boussioutas; Annemieke Cats; Amanda Charlton; Karen E Chelcun Schreiber; Jeremy L Davis; Massimiliano di Pietro; Rebecca C Fitzgerald; James M Ford; Kimberley Gamet; Irene Gullo; Richard H Hardwick; David G Huntsman; Pardeep Kaurah; Sonia S Kupfer; Andrew Latchford; Paul F Mansfield; Takeshi Nakajima; Susan Parry; Jeremy Rossaak; Haruhiko Sugimura; Magali Svrcek; Marc Tischkowitz; Toshikazu Ushijima; Hidetaka Yamada; Han-Kwang Yang; Adrian Claydon; Joana Figueiredo; Karyn Paringatai; Raquel Seruca; Nicola Bougen-Zhukov; Tom Brew; Simone Busija; Patricia Carneiro; Lynn DeGregorio; Helen Fisher; Erin Gardner; Tanis D Godwin; Katharine N Holm; Bostjan Humar; Caroline J Lintott; Elizabeth C Monroe; Mark D Muller; Enrique Norero; Yasmin Nouri; Joana Paredes; João M Sanches; Emily Schulpen; Ana S Ribeiro; Andrew Sporle; James Whitworth; Liying Zhang; Anthony E Reeve; Parry Guilford
Journal:  Lancet Oncol       Date:  2020-08       Impact factor: 41.316

2.  Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.

Authors:  Tim Marwitz; Robert Hüneburg; Isabel Spier; Jan-Frederic Lau; Glen Kristiansen; Philipp Lingohr; Jörg C Kalff; Stefan Aretz; Jacob Nattermann; Christian P Strassburg
Journal:  Cancers (Basel)       Date:  2020-12-11       Impact factor: 6.639

Review 3.  Hereditary Diffuse Gastric Cancer: Molecular Genetics, Biological Mechanisms and Current Therapeutic Approaches.

Authors:  Lidia-Sabina Cosma; Sophie Schlosser; Hauke C Tews; Martina Müller; Arne Kandulski
Journal:  Int J Mol Sci       Date:  2022-07-15       Impact factor: 6.208

Review 4.  Environmental and genetic risk factors for gastric cancer.

Authors:  Dhavan Shah; David Bentrem
Journal:  J Surg Oncol       Date:  2022-06       Impact factor: 2.885
  4 in total

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