CDH1 c.1774G>A ;(p.A592T)

Variant ID: 16-68855966-G-A

NM_004360.3(CDH1):c.1774G>A;(p.A592T)

This variant was identified in 64 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: CDH1: A592T
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2022-11-24

Variant appearance in text: CDH1: 1774G>A; Ala592Thr
PubMed Link: 36436516
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Nature Communications
Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V
Publication Date: 2022-09-07

Variant appearance in text: CDH1: 1774G>A; A592T
PubMed Link: 36071033
Variant Present in the following documents:
  • 41467_2022_32828_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Overexpression of the miR-17-92 cluster in colorectal adenoma organoids causes a carcinoma-like gene expression signature.

Neoplasia (New York, N.Y.)
Martens-de Kemp, Sanne R SR; Komor, Malgorzata A MA; Hegi, Rosa R; Bolijn, Anne S AS; Tijssen, Marianne M; de Groen, Florence L M FLM; Depla, Annekatrien A; van Leerdam, Monique M; Meijer, Gerrit A GA; Fijneman, Remond J A RJA; Carvalho, Beatriz B
Publication Date: 2022-10

Variant appearance in text: CDH1: A592T
PubMed Link: 35872559
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



PROM1, CXCL8, RUNX1, NAV1 and TP73 genes as independent markers predictive of prognosis or response to treatment in two cohorts of high-grade serous ovarian cancer patients.

Plos One
Dansonka-Mieszkowska, Agnieszka A; Szafron, Laura Aleksandra LA; Kulesza, Magdalena M; Stachurska, Anna A; Leszczynski, Pawel P; Tomczyk-Szatkowska, Agnieszka A; Sobiczewski, Piotr P; Parada, Joanna J; Kulinczak, Mariusz M; Moes-Sosnowska, Joanna J; Pienkowska-Grela, Barbara B; Kupryjanczyk, Jolanta J; Chechlinska, Magdalena M; Szafron, Lukasz Michal LM
Publication Date: 2022

Variant appearance in text: CDH1: 1774G>A; Ala592Thr; rs35187787
PubMed Link: 35867729
Variant Present in the following documents:
  • pone.0271539.s007.xlsx, sheet 1
View BVdb publication page



Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports
Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2022-03-09

Variant appearance in text: CDH1: 1774G>A
PubMed Link: 35264596
Variant Present in the following documents:
  • 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer
Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM
Publication Date: 2021-11

Variant appearance in text: CDH1: 1774G>A; Ala592Thr
PubMed Link: 34870237
Variant Present in the following documents:
  • EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: CDH1: 1774G>A; Ala592Thr; rs35187787
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: CDH1: 1774G>A; Ala592Thr; rs35187787
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.

Cancers
Corso, Giovanni G; Corso, Federica F; Bellerba, Federica F; Carneiro, Patrícia P; Seixas, Susana S; Cioffi, Antonio A; La Vecchia, Carlo C; Magnoni, Francesca F; Bonanni, Bernardo B; Veronesi, Paolo P; Gandini, Sara S; Figueiredo, Joana J
Publication Date: 2021-03-12

Variant appearance in text: CDH1: A592T
PubMed Link: 33809393
Variant Present in the following documents:
  • Main text
  • cancers-13-01269-s001.pdf
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: CDH1: 1774G>A; Ala592Thr; rs35187787
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Breast Cancer Research : Bcr
Priedigkeit, Nolan N; Ding, Kai K; Horne, William W; Kolls, Jay K JK; Du, Tian T; Lucas, Peter C PC; Blohmer, Jens-Uwe JU; Denkert, Carsten C; Machleidt, Anna A; Ingold-Heppner, Barbara B; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2021-01-06

Variant appearance in text: CDH1: A592T; rs35187787
PubMed Link: 33407744
Variant Present in the following documents:
  • 13058_2020_1379_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



STAT3 and TP53 mutations associate with poor prognosis in anaplastic large cell lymphoma.

Leukemia
Lobello, Cosimo C; Tichy, Boris B; Bystry, Vojtech V; Radova, Lenka L; Filip, Daniel D; Mraz, Marek M; Montes-Mojarro, Ivonne-Aidee IA; Prokoph, Nina N; Larose, Hugo H; Liang, Huan-Chang HC; Sharma, Geeta G GG; Mologni, Luca L; Belada, David D; Kamaradova, Katerina K; Fend, Falko F; Gambacorti-Passerini, Carlo C; Merkel, Olaf O; Turner, Suzanne D SD; Janikova, Andrea A; Pospisilova, Sarka S
Publication Date: 2021-05

Variant appearance in text: CDH1: 1774G>A; A592T; rs35187787
PubMed Link: 33247178
Variant Present in the following documents:
  • 41375_2020_1093_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj
Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F
Publication Date: 2020

Variant appearance in text: CDH1: 1774G>A; Ala592Thr; rs35187787
PubMed Link: 33083132
Variant Present in the following documents:
  • peerj-08-10069-s013.xlsx, sheet 1
  • peerj-08-10069-s012.xlsx, sheet 1
  • peerj-08-10069-s010.xlsx, sheet 1
  • peerj-08-10069-s009.xlsx, sheet 1
View BVdb publication page



Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period.

Jco Precision Oncology
Esterling, Lisa L; Wijayatunge, Ranjula R; Brown, Krystal K; Morris, Brian B; Hughes, Elisha E; Pruss, Dmitry D; Manley, Susan S; Bowles, Karla R KR; Ross, Theodora S TS
Publication Date: 2020

Variant appearance in text: CDH1: 1774G>A; Ala592Thr
PubMed Link: 32923914
Variant Present in the following documents:
  • Main text
  • PO.20.00020.pdf
View BVdb publication page



Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Plos One
Bishop, Madison R MR; Omeler-Fenaud, Sophonie M SM; Huskey, Anna L W ALW; Merner, Nancy D ND
Publication Date: 2020

Variant appearance in text: CDH1: A592T
PubMed Link: 32866190
Variant Present in the following documents:
  • pone.0238295.s002.xlsx, sheet 1
View BVdb publication page



Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One
Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R
Publication Date: 2020

Variant appearance in text: CDH1: 1774G>A; rs35187787
PubMed Link: 32639993
Variant Present in the following documents:
  • pone.0235766.s008.xlsx, sheet 3
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: CDH1: 1774G>A; A592T; rs35187787
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: CDH1: 1774G>A; A592T
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 1
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: CDH1: 1774G>A; A592T
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs35187787
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
  • DataSheet_1.xlsx, sheet 13
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: CDH1: 1774G>A; A592T
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: CDH1: A592T; rs35187787
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: rs35187787
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Journal Of Medical Genetics
Figueiredo, Joana J; Melo, Soraia S; Carneiro, Patrícia P; Moreira, Ana Margarida AM; Fernandes, Maria Sofia MS; Ribeiro, Ana Sofia AS; Guilford, Parry P; Paredes, Joana J; Seruca, Raquel R
Publication Date: 2019-04

Variant appearance in text: CDH1: 1774G>A; Ala592Thr
PubMed Link: 30661051
Variant Present in the following documents:
  • Main text
  • jmedgenet-2018-105807.pdf
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: CDH1: A592T; rs35187787
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: CDH1: 1774G>A; Ala592Thr; rs35187787
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



A Bayesian framework for efficient and accurate variant prediction.

Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018

Variant appearance in text: CDH1: 1774G>A; A592T
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics
Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2018-02-20

Variant appearance in text: CDH1: A592T; rs35187787
PubMed Link: 29458332
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_533.pdf
View BVdb publication page



Characterizing Metastatic HER2-Positive Gastric Cancer at the CDH1 Haplotype.

International Journal Of Molecular Sciences
Caggiari, Laura L; Miolo, Gianmaria G; Buonadonna, Angela A; Basile, Debora D; Santeufemia, Davide A DA; Cossu, Antonio A; Palmieri, Giuseppe G; De Zorzi, Mariangela M; Fornasarig, Mara M; Alessandrini, Lara L; Canzonieri, Vincenzo V; Lo Re, Giovanni G; Puglisi, Fabio F; Steffan, Agostino A; Cannizzaro, Renato R; De Re, Valli V
Publication Date: 2017-12-23

Variant appearance in text: CDH1: 1774G>A; Ala592Thr; rs35187787
PubMed Link: 29295527
Variant Present in the following documents:
  • Main text
  • ijms-19-00047.pdf
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: CDH1: 1774G>A; A592T; rs35187787
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.

Oncotarget
Hovelson, Daniel H DH; Liu, Chia-Jen CJ; Wang, Yugang Y; Kang, Qing Q; Henderson, James J; Gursky, Amy A; Brockman, Scott S; Ramnath, Nithya N; Krauss, John C JC; Talpaz, Moshe M; Kandarpa, Malathi M; Chugh, Rashmi R; Tuck, Missy M; Herman, Kirk K; Grasso, Catherine S CS; Quist, Michael J MJ; Feng, Felix Y FY; Haakenson, Christine C; Langmore, John J; Kamberov, Emmanuel E; Tesmer, Tim T; Husain, Hatim H; Lonigro, Robert J RJ; Robinson, Dan D; Smith, David C DC; Alva, Ajjai S AS; Hussain, Maha H MH; Chinnaiyan, Arul M AM; Tewari, Muneesh M; Mills, Ryan E RE; Morgan, Todd M TM; Tomlins, Scott A SA
Publication Date: 2017-10-27

Variant appearance in text: CDH1: A592T
PubMed Link: 29163793
Variant Present in the following documents:
  • oncotarget-08-89848-s005.xlsx, sheet 1
View BVdb publication page



Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.

Oncotarget
Busch, Evan L EL; Hornick, Jason L JL; Umeton, Renato R; Albayrak, Adem A; Lindeman, Neal I NI; MacConaill, Laura E LE; Garcia, Elizabeth P EP; Ducar, Matthew M; Rebbeck, Timothy R TR
Publication Date: 2017-10-17

Variant appearance in text: CDH1: 1774G>A; A592T
PubMed Link: 29156750
Variant Present in the following documents:
  • oncotarget-08-85680-s002.xlsx, sheet 1
View BVdb publication page



Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09

Variant appearance in text: CDH1: 1774G>A; Ala592Thr; rs35187787
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx, sheet 2
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: CDH1: 1774G>A; Ala592Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Targeted sequencing may facilitate differential diagnostics of pulmonary tumours: a case series.

Diagnostic Pathology
Ericson-Lindquist, Kajsa K; Johansson, Anna A; Levéen, Per P; Elmberger, Göran G; Jönsson, Göran G; Staaf, Johan J; Brunnström, Hans H
Publication Date: 2017-03-27

Variant appearance in text: CDH1: 1774G>A; rs35187787
PubMed Link: 28347348
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing in familial breast cancer patients from Lebanon.

Bmc Medical Genomics
Jalkh, Nadine N; Chouery, Eliane E; Haidar, Zahraa Z; Khater, Christina C; Atallah, David D; Ali, Hamad H; Marafie, Makia J MJ; Al-Mulla, Mohamed R MR; Al-Mulla, Fahd F; Megarbane, Andre A
Publication Date: 2017-02-15

Variant appearance in text: CDH1: A592T
PubMed Link: 28202063
Variant Present in the following documents:
  • Main text
  • 12920_2017_Article_244.pdf
View BVdb publication page



Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One
He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM
Publication Date: 2016

Variant appearance in text: CDH1: A592T; rs35187787
PubMed Link: 27930734
Variant Present in the following documents:
  • pone.0167847.s002.xls, sheet 1
View BVdb publication page



Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

Familial Cancer
Rohlin, Anna A; Rambech, Eva E; Kvist, Anders A; Törngren, Therese T; Eiengård, Frida F; Lundstam, Ulf U; Zagoras, Theofanis T; Gebre-Medhin, Samuel S; Borg, Åke Å; Björk, Jan J; Nilbert, Mef M; Nordling, Margareta M
Publication Date: 2017-04

Variant appearance in text: rs35187787
PubMed Link: 27696107
Variant Present in the following documents:
  • Main text
View BVdb publication page



Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Balmaña, Judith J; Digiovanni, Laura L; Gaddam, Pragna P; Walsh, Michael F MF; Joseph, Vijai V; Stadler, Zsofia K ZK; Nathanson, Katherine L KL; Garber, Judy E JE; Couch, Fergus J FJ; Offit, Kenneth K; Robson, Mark E ME; Domchek, Susan M SM
Publication Date: 2016-12

Variant appearance in text: CDH1: Ala592Thr
PubMed Link: 27621404
Variant Present in the following documents:
  • JCO.2016.68.4316.pdf
View BVdb publication page



Roles for E-cadherin cell surface regulation in cancer.

Molecular Biology Of The Cell
Petrova, Yuliya I YI; Schecterson, Leslayann L; Gumbiner, Barry M BM
Publication Date: 2016-11-01

Variant appearance in text: CDH1: A592T
PubMed Link: 27582386
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: CDH1: A592T
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: CDH1: A592T
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
View BVdb publication page



Myelodysplastic syndrome associated with acquired beta thalassemia: "BTMDS".

American Journal Of Hematology
Brunner, Andrew M AM; Steensma, David P DP
Publication Date: 2016-08

Variant appearance in text: CDH1: A592T
PubMed Link: 27121565
Variant Present in the following documents:
  • Main text
View BVdb publication page



A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Bmc Medical Genomics
Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK
Publication Date: 2016-04-11

Variant appearance in text: CDH1: 1774G>A; Ala592Thr; rs35187787
PubMed Link: 27067391
Variant Present in the following documents:
  • 12920_2016_178_MOESM13_ESM.xlsx, sheet 1
  • 12920_2016_178_MOESM14_ESM.xlsx, sheet 1
  • 12920_2016_178_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20

Variant appearance in text: CDH1: 1774G>A; A592T; rs35187787
PubMed Link: 27060149
Variant Present in the following documents:
  • supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs35187787
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Detection of Dual IDH1 and IDH2 Mutations by Targeted Next-Generation Sequencing in Acute Myeloid Leukemia and Myelodysplastic Syndromes.

The Journal Of Molecular Diagnostics : Jmd
Platt, Mia Y MY; Fathi, Amir T AT; Borger, Darrell R DR; Brunner, Andrew M AM; Hasserjian, Robert P RP; Balaj, Leonora L; Lum, Amy A; Yip, Stephen S; Dias-Santagata, Dora D; Zheng, Zongli Z; Le, Long P LP; Graubert, Timothy A TA; Iafrate, A John AJ; Nardi, Valentina V
Publication Date: 2015-11

Variant appearance in text: CDH1: 1774G>A; Ala592Thr
PubMed Link: 26331834
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CDH1: A592T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: rs35187787
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma.

Oncotarget
Costa, Valerio V; Esposito, Roberta R; Ziviello, Carmela C; Sepe, Romina R; Bim, Larissa Valdemarin LV; Cacciola, Nunzio Antonio NA; Decaussin-Petrucci, Myriam M; Pallante, Pierlorenzo P; Fusco, Alfredo A; Ciccodicola, Alfredo A
Publication Date: 2015-05-10

Variant appearance in text: CDH1: A592T
PubMed Link: 25803323
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CDH1: A592T; rs35187787
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Sequence-based detection of mutations in cadherin 1 to determine the prevalence of germline mutations in patients with invasive lobular carcinoma of the breast.

Hereditary Cancer In Clinical Practice
Valente, Allyson L AL; Rummel, Seth S; Shriver, Craig D CD; Ellsworth, Rachel E RE
Publication Date: 2014

Variant appearance in text: CDH1: A592T
PubMed Link: 25067988
Variant Present in the following documents:
  • Main text
  • 1897-4287-12-17.pdf
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: CDH1: A592T; rs35187787
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: CDH1: A592T
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr
Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA
Publication Date: 2013-12-10

Variant appearance in text: rs35187787
PubMed Link: 24326041
Variant Present in the following documents:
  • bcr3584-S1.pdf
View BVdb publication page



Identification and characterization of CDH1 germline variants in sporadic gastric cancer patients and in individuals at risk of gastric cancer.

Plos One
Garziera, Marica M; Canzonieri, Vincenzo V; Cannizzaro, Renato R; Geremia, Silvano S; Caggiari, Laura L; De Zorzi, Mariangela M; Maiero, Stefania S; Orzes, Enrico E; Perin, Tiziana T; Zanussi, Stefania S; De Paoli, Paolo P; De Re, Valli V
Publication Date: 2013

Variant appearance in text: CDH1: A592T
PubMed Link: 24204729
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.

Journal Of Human Genetics
Lefevre, Jérémie H JH; Bonilla, Carolina C; Colas, Chrystelle C; Winney, Bruce B; Johnstone, Elaine E; Tonks, Susan S; Day, Tammy T; Hutnik, Katarzyna K; Boumertit, Abdelhamid A; Soubrier, Florent F; Midgley, Rachel R; Kerr, David D; Parc, Yann Y; Bodmer, Walter F WF
Publication Date: 2012-11-26

Variant appearance in text: CDH1: A592T; rs35187787
PubMed Link: 22875147
Variant Present in the following documents:
  • Main text
View BVdb publication page



E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.

Plos One
Simões-Correia, Joana J; Figueiredo, Joana J; Lopes, Rui R; Stricher, François F; Oliveira, Carla C; Serrano, Luis L; Seruca, Raquel R
Publication Date: 2012

Variant appearance in text: CDH1: A592T
PubMed Link: 22470475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: CDH1: A592T
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.

Journal Of Medical Genetics
Schrader, K A KA; Masciari, S S; Boyd, N N; Salamanca, C C; Senz, J J; Saunders, D N DN; Yorida, E E; Maines-Bandiera, S S; Kaurah, P P; Tung, N N; Robson, M E ME; Ryan, P D PD; Olopade, O I OI; Domchek, S M SM; Ford, J J; Isaacs, C C; Brown, P P; Balmana, J J; Razzak, A R AR; Miron, P P; Coffey, K K; Terry, M B MB; John, E M EM; Andrulis, I L IL; Knight, J A JA; O'Malley, F P FP; Daly, M M; Bender, P P; , ; Moore, R R; Southey, M C MC; Hopper, J L JL; Garber, J E JE; Huntsman, D G DG
Publication Date: 2011-01

Variant appearance in text: CDH1: A592T
PubMed Link: 20921021
Variant Present in the following documents:
  • Main text
  • jmedgenet79814.pdf
View BVdb publication page



Genetic screening for familial gastric cancer.

Hereditary Cancer In Clinical Practice
Oliveira, Carla C; Suriano, Gianpaolo G; Ferreira, Paulo P; Canedo, Paulo P; Kaurah, Pardeep P; Mateus, Rita R; Ferreira, Ana A; Ferreira, António C AC; Oliveira, Maria José MJ; Figueiredo, Céu C; Carneiro, Fátima F; Keller, Gisela G; Huntsman, David D; Machado, José Carlos JC; Seruca, Raquel R
Publication Date: 2004-05-15

Variant appearance in text: CDH1: A592T
PubMed Link: 20233471
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline E-cadherin mutations in familial lobular breast cancer.

Journal Of Medical Genetics
Masciari, S S; Larsson, N N; Senz, J J; Boyd, N N; Kaurah, P P; Kandel, M J MJ; Harris, L N LN; Pinheiro, H C HC; Troussard, A A; Miron, P P; Tung, N N; Oliveira, C C; Collins, L L; Schnitt, S S; Garber, J E JE; Huntsman, D D
Publication Date: 2007-11

Variant appearance in text: CDH1: A592T
PubMed Link: 17660459
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alterations of E-cadherin and beta-catenin in gastric cancer.

Bmc Cancer
Huiping, C C; Kristjansdottir, S S; Jonasson, J G JG; Magnusson, J J; Egilsson, V V; Ingvarsson, S S
Publication Date: 2001

Variant appearance in text: CDH1: A592T
PubMed Link: 11747475
Variant Present in the following documents:
  • 1471-2407-1-16.pdf
View BVdb publication page