Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
The Lancet. Oncology
Garcia-Pelaez, José J; Barbosa-Matos, Rita R; Lobo, Silvana S; Dias, Alexandre A; Garrido, Luzia L; Castedo, Sérgio S; Sousa, Sónia S; Pinheiro, Hugo H; Sousa, Liliana L; Monteiro, Rita R; Maqueda, Joaquin J JJ; Fernandes, Susana S; Carneiro, Fátima F; Pinto, Nádia N; Lemos, Carolina C; Pinto, Carla C; Teixeira, Manuel R MR; Aretz, Stefan S; Bajalica-Lagercrantz, Svetlana S; Balmaña, Judith J; Blatnik, Ana A; Benusiglio, Patrick R PR; Blanluet, Maud M; Bours, Vicent V; Brems, Hilde H; Brunet, Joan J; Calistri, Daniele D; Capellá, Gabriel G; Carrera, Sergio S; Colas, Chrystelle C; Dahan, Karin K; de Putter, Robin R; Desseignés, Camille C; Domínguez-Garrido, Elena E; Egas, Conceição C; Evans, D Gareth DG; Feret, Damien D; Fewings, Eleanor E; Fitzgerald, Rebecca C RC; Coulet, Florence F; Garcia-Barcina, María M; Genuardi, Maurizio M; Golmard, Lisa L; Hackmann, Karl K; Hanson, Helen H; Holinski-Feder, Elke E; Hüneburg, Robert R; Krajc, Mateja M; Lagerstedt-Robinson, Kristina K; Lázaro, Conxi C; Ligtenberg, Marjolijn J L MJL; Martínez-Bouzas, Cristina C; Merino, Sonia S; Michils, Geneviève G; Novaković, Srdjan S; Patiño-García, Ana A; Ranzani, Guglielmina Nadia GN; Schröck, Evelin E; Silva, Inês I; Silveira, Catarina C; Soto, José L JL; Spier, Isabel I; Steinke-Lange, Verena V; Tedaldi, Gianluca G; Tejada, María-Isabel MI; Woodward, Emma R ER; Tischkowitz, Marc M; Hoogerbrugge, Nicoline N; Oliveira, Carla C
CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.
British Journal Of Cancer
Adib, Elio E; El Zarif, Talal T; Nassar, Amin H AH; Akl, Elie W EW; Abou Alaiwi, Sarah S; Mouhieddine, Tarek H TH; Esplin, Edward D ED; Hatchell, Kathryn K; Nielsen, Sarah M SM; Rana, Huma Q HQ; Choueiri, Toni K TK; Kwiatkowski, David J DJ; Sonpavde, Guru G
Publication Date: 2022-03
Variant appearance in text: CDH1: 1679C>G; Thr560Arg
Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.
Cancers
Marwitz, Tim T; Hüneburg, Robert R; Spier, Isabel I; Lau, Jan-Frederic JF; Kristiansen, Glen G; Lingohr, Philipp P; Kalff, Jörg C JC; Aretz, Stefan S; Nattermann, Jacob J; Strassburg, Christian P CP
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Genes
Selvanathan, Arthavan A; Nixon, Cheng Yee CY; Zhu, Ying Y; Scietti, Luigi L; Forneris, Federico F; Uribe, Lina M Moreno LMM; Lidral, Andrew C AC; Jezewski, Peter A PA; Mulliken, John B JB; Murray, Jeffrey C JC; Buckley, Michael F MF; Cox, Timothy C TC; Roscioli, Tony T
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).
Journal Of Medical Genetics
Lo, Winifred W; Zhu, Bin B; Sabesan, Arvind A; Wu, Ho-Hsiang HH; Powers, Astin A; Sorber, Rebecca A RA; Ravichandran, Sarangan S; Chen, Ina I; McDuffie, Lucas A LA; Quadri, Humair S HS; Beane, Joal D JD; Calzone, Kathleen K; Miettinen, Markku M MM; Hewitt, Stephen M SM; Koh, Christopher C; Heller, Theo T; Wacholder, Sholom S; Rudloff, Udo U
The prognostic effects of somatic mutations in ER-positive breast cancer.
Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer.
European Journal Of Human Genetics : Ejhg
Pena-Couso, Laura L; Perea, José J; Melo, Soraia S; Mercadillo, Fátima F; Figueiredo, Joana J; Sanches, João Miguel JM; Sánchez-Ruiz, Antonio A; Robles, Luis L; Seruca, Raquel R; Urioste, Miguel M
A study of splicing mutations in disorders of sex development.
Scientific Reports
de Calais, Flavia Leme FL; Smith, Lindsay D LD; Raponi, Michela M; Maciel-Guerra, Andréa Trevas AT; Guerra-Junior, Gil G; de Mello, Maricilda Palandi MP; Baralle, Diana D
CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5' Splice Site.
Plos One
Yelskaya, Zarina Z; Bacares, Ruben R; Salo-Mullen, Erin E; Somar, Joshua J; Lehrich, Deborah A DA; Fasaye, Grace-Ann GA; Coit, Daniel G DG; Tang, Laura H LH; Stadler, Zsofia K ZK; Zhang, Liying L
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ