CDH1 c.1913G>A ;(p.W638*)

Variant ID: 16-68856105-G-A

NM_004360.3(CDH1):c.1913G>A;(p.W638*)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: CDH1: 1913G>A
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: CDH1: 1913G>A
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Multi-omic machine learning predictor of breast cancer therapy response.

Nature
Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C
Publication Date: 2022-01

Variant appearance in text: CDH1: 1913G>A
PubMed Link: 34875674
Variant Present in the following documents:
  • 41586_2021_4278_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Atlas of Lobular Breast Cancer Models: Challenges and Strategic Directions.

Cancers
Sflomos, George G; Schipper, Koen K; Koorman, Thijs T; Fitzpatrick, Amanda A; Oesterreich, Steffi S; Lee, Adrian V AV; Jonkers, Jos J; Brunton, Valerie G VG; Christgen, Matthias M; Isacke, Clare C; Derksen, Patrick W B PWB; Brisken, Cathrin C
Publication Date: 2021-10-27

Variant appearance in text: CDH1: W638X
PubMed Link: 34771558
Variant Present in the following documents:
  • Main text
  • cancers-13-05396.pdf
View BVdb publication page



Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations.

Journal Of Human Genetics
Katoh, Hiroto H; Ishikawa, Shumpei S
Publication Date: 2021-09

Variant appearance in text: CDH1: W638X
PubMed Link: 34267306
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Hierarchy and Cooperation of EMT Master Transcription Factors in Breast Cancer Metastasis.

Molecular Cancer Research : Mcr
Addison, Joseph B JB; Voronkova, Maria A MA; Fugett, James H JH; Lin, Chen-Chung CC; Linville, Nathaniel C NC; Trinh, Brandon B; Livengood, Ryan H RH; Smolkin, Matthew B MB; Schaller, Michael D MD; Ruppert, J Michael JM; Pugacheva, Elena N EN; Creighton, Chad J CJ; Ivanov, Alexey V AV
Publication Date: 2021-05

Variant appearance in text: CDH1: W638*
PubMed Link: 33500360
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: CDH1: W638*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s003.xlsx, sheet 1
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: CDH1: 1913G>A
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.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: 1913G>A; Trp638Ter
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 1
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: 1913G>A; W638*
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences
Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ
Publication Date: 2019

Variant appearance in text: CDH1: Trp638Ter
PubMed Link: 31681791
Variant Present in the following documents:
  • Data_Sheet_5.pdf
View BVdb publication page



Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.

Nature Communications
Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J
Publication Date: 2019-06-17

Variant appearance in text: CDH1: W638*
PubMed Link: 31209238
Variant Present in the following documents:
  • 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Guindalini, Rodrigo Santa Cruz RSC; Cormedi, Marina Cândido Visontai MCV; Maistro, Simone S; Pasini, Fátima Solange FS; Branas, Priscila Cristina Abduch Adas PCAA; Dos Santos, Liliane L; de Lima Pereira, Gláucia Fernanda GF; de Bock, Geertruida Hendrika GH; Saccaro, Daniela Marques DM; Katayama, Maria Lucia Hirata MLH; Faraj, Sheila Friedrich SF; Safatle-Ribeiro, Adriana A; Ribeiro Junior, Ulysses U; Diz, Maria Del Pilar Estevez MDPE; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Chammas, Roger R; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2019-09

Variant appearance in text: CDH1: 1913G>A
PubMed Link: 30895400
Variant Present in the following documents:
  • Main text
  • 10120_2019_Article_945.pdf
View BVdb publication page



Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Guindalini, Rodrigo Santa Cruz RSC; Cormedi, Marina Cândido Visontai MCV; Maistro, Simone S; Pasini, Fátima Solange FS; Branas, Priscila Cristina Abduch Adas PCAA; Dos Santos, Liliane L; de Lima Pereira, Gláucia Fernanda GF; de Bock, Geertruida Hendrika GH; Saccaro, Daniela Marques DM; Katayama, Maria Lucia Hirata MLH; Faraj, Sheila Friedrich SF; Safatle-Ribeiro, Adriana A; Ribeiro Junior, Ulysses U; Diz, Maria Del Pilar Estevez MDPE; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Chammas, Roger R; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2019-09

Variant appearance in text: CDH1: 1913G>A
PubMed Link: 30895400
Variant Present in the following documents:
  • Main text
  • 10120_2019_Article_945.pdf
View BVdb publication page



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
Publication Date: 2018-09-04

Variant appearance in text: N/A
PubMed Link: 30181556
Variant Present in the following documents:
View BVdb publication page



Genetic and transcriptional evolution alters cancer cell line drug response.

Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08

Variant appearance in text: CDH1: 1913G>A; W638*
PubMed Link: 30089904
Variant Present in the following documents:
  • NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1
View BVdb publication page



Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

European Journal Of Human Genetics : Ejhg
Kievit, Anneke A; Tessadori, Federico F; Douben, Hannie H; Jordens, Ingrid I; Maurice, Madelon M; Hoogeboom, Jeannette J; Hennekam, Raoul R; Nampoothiri, Sheela S; Kayserili, Hülya H; Castori, Marco M; Whiteford, Margo M; Motter, Connie C; Melver, Catherine C; Cunningham, Michael M; Hing, Anne A; Kokitsu-Nakata, Nancy M NM; Vendramini-Pittoli, Siulan S; Richieri-Costa, Antonio A; Baas, Annette F AF; Breugem, Corstiaan C CC; Duran, Karen K; Massink, Maarten M; Derksen, Patrick W B PWB; van IJcken, Wilfred F J WFJ; van Unen, Leontine L; Santos-Simarro, Fernando F; Lapunzina, Pablo P; Gil-da Silva Lopes, Vera L VL; Lustosa-Mendes, Elaine E; Krall, Max M; Slavotinek, Anne A; Martinez-Glez, Victor V; Bakkers, Jeroen J; van Gassen, Koen L I KLI; de Klein, Annelies A; van den Boogaard, Marie-José H MH; van Haaften, Gijs G
Publication Date: 2018-02

Variant appearance in text: CDH1: 1913G>A; Trp638*
PubMed Link: 29348693
Variant Present in the following documents:
  • Main text
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: CDH1: 1913G>A
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



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
Publication Date: 2016-07-28

Variant appearance in text: CDH1: 1913G>A; W638*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: CDH1: 1913G>A
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: CDH1: 1913G>A
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA.

European Journal Of Human Genetics : Ejhg
Bordeira-Carriço, Renata R; Ferreira, Daniel D; Mateus, Denisa D DD; Pinheiro, Hugo H; Pêgo, Ana Paula AP; Santos, Manuel A S MA; Oliveira, Carla C
Publication Date: 2014-09

Variant appearance in text: CDH1: 1913G>A
PubMed Link: 24424122
Variant Present in the following documents:
  • Main text
View BVdb publication page