Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer
作者： Laura Pena-Couso , José Perea , Soraia Melo , Fátima Mercadillo , Joana Figueiredo
DOI: 10.1038/S41431-018-0173-8
关键词:
摘要: Germline changes in the CDH1 tumor suppressor gene predispose to diffuse gastric cancer and lobular breast cancer. In carriers of deleterious germline variants, prophylactic gastrectomy is recommended. case missense it mandatory assess functional impact on E-cadherin, protein encoded by CDH1, predict their clinical significance. Herein, we have identified a recurrent variant, c.1679C>G, segregating with three unrelated Spanish families. Through genetic, transcriptional, silico vitro studies, demonstrate effect c.1679C>G variant its association hereditary cancer, providing relevant data relatives allowing an accurate genetic counseling.
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sci-hub.se 参考文章(15)
Joana Figueiredo, Raquel Seruca, Germline Missense Mutants in Hereditary Diffuse Gastric Cancer Springer, Dordrecht. pp. 77- 86 ,(2013) , 10.1007/978-94-007-6570-2_7
A Almeida, B Hessling, J Figueiredo, F Gärtner, J M Sanches, T Ruppert, E Miyoshi, M Pierce, F Carneiro, D Kolarich, R Seruca, Y Yamaguchi, N Taniguchi, C A Reis, S S Pinho, S Carvalho, T A Catarino, A M Dias, M Kato, Preventing E-cadherin aberrant N-glycosylation at Asn-554 improves its critical function in gastric cancer Oncogene. ,vol. 35, pp. 1619- 1631 ,(2016) , 10.1038/ONC.2015.225
Giovanni Corso, Daniele Marrelli, Valeria Pascale, Carla Vindigni, Franco Roviello, Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature BMC Cancer. ,vol. 12, pp. 8- 17 ,(2012) , 10.1186/1471-2407-12-8
Feng Zhou, Jianmin Su, Le Fu, Yong Yang, Lineng Zhang, Liying Wang, Hongbo Zhao, Diancai Zhang, Zengxia Li, Xiliang Zha, Unglycosylation at Asn-633 made extracellular domain of E-cadherin folded incorrectly and arrested in endoplasmic reticulum, then sequentially degraded by ERAD Glycoconjugate Journal. ,vol. 25, pp. 727- 740 ,(2008) , 10.1007/S10719-008-9133-9
Liying Zhang, Alexander Xiao, Jeanine Ruggeri, Ruben Bacares, Joshua Somar, Soraia Melo, Joana Figueiredo, Joana Simões-Correia, Raquel Seruca, Manish A. Shah, The germline CDH1 c.48 G > C substitution contributes to cancer predisposition through generation of a pro-invasive mutation Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. ,vol. 770, pp. 106- 111 ,(2014) , 10.1016/J.MRFMMM.2014.10.001
Salomé S. Pinho, Sandra Carvalho, Ricardo Marcos-Pinto, Ana Magalhães, Carla Oliveira, Jianguo Gu, Mário Dinis-Ribeiro, Fátima Carneiro, Raquel Seruca, Celso A. Reis, Gastric cancer: adding glycosylation to the equation Trends in Molecular Medicine. ,vol. 19, pp. 664- 676 ,(2013) , 10.1016/J.MOLMED.2013.07.003
Giovanni Corso, Joana Figueiredo, Roberto Biffi, Chiara Trentin, Bernardo Bonanni, Irene Feroce, Davide Serrano, Enrico Cassano, Bruno Annibale, Soraia Melo, Raquel Seruca, Francesca De Lorenzi, Francesco Ferrara, Riccardo Piagnerelli, Franco Roviello, Viviana Galimberti, E-cadherin germline mutation carriers: clinical management and genetic implications Cancer and Metastasis Reviews. ,vol. 33, pp. 1081- 1094 ,(2014) , 10.1007/S10555-014-9528-Y
Carla Oliveira, Hugo Pinheiro, Joana Figueiredo, Raquel Seruca, Fátima Carneiro, Familial gastric cancer: genetic susceptibility, pathology, and implications for management. Lancet Oncology. ,vol. 16, ,(2015) , 10.1016/S1470-2045(14)71016-2
Liying Zhang, Alexander Xiao, Jeanine Ruggeri, Ruben Bacares, Joshua Somar, Syma Iqbal, Charite Ricker, Soraia Melo, Joana Figueiredo, Joana Simões-Correia, Raquel Seruca, Manish A. Shah, Corrigendum to “The germline CDH1 c.48 G > C substitution contributes to cancer predisposition through generation of a pro-invasive mutation” [Mutat. Res. 770 (2014) 106–111] Mutation Research. ,vol. 774, pp. 59- ,(2015) , 10.1016/J.MRFMMM.2015.04.001
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 GEM 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 JL 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 CT Van Grieken, Richard Van Hillegersberg, Johanna W Van Sandick, Rianne Vehof, J Han van Krieken, Rebecca C Fitzgerald, None, Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers Journal of Medical Genetics. ,vol. 52, pp. 361- 374 ,(2015) , 10.1136/JMEDGENET-2015-103094