CDH1 c.641T>C ;(p.L214P)

Variant ID: 16-68842705-T-C

NM_004360.3(CDH1):c.641T>C;(p.L214P)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Jama Network Open
Liu, Ze-Xian ZX; Zhang, Xiao-Long XL; Zhao, Qi Q; Chen, Yungchang Y; Sheng, Hui H; He, Cai-Yun CY; Sun, Yu-Ting YT; Lai, Ming-Yu MY; Wu, Min-Qing MQ; Zuo, Zhi-Xiang ZX; Wang, Wei W; Zhou, Zhi-Wei ZW; Wang, Feng-Hua FH; Li, Yu-Hong YH; Xu, Rui-Hua RH; Qiu, Miao-Zhen MZ
Publication Date: 2022-12-01

Variant appearance in text: CDH1: L214P
PubMed Link: 36484990
Variant Present in the following documents:
  • jamanetwopen-e2245836-s002.xlsx, sheet 5
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: 641T>C
PubMed Link: 36436516
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Inter-observer agreement for the histological diagnosis of invasive lobular breast carcinoma.

The Journal Of Pathology. Clinical Research
Christgen, Matthias M; Kandt, Leonie Donata LD; Antonopoulos, Wiebke W; Bartels, Stephan S; Van Bockstal, Mieke R MR; Bredt, Martin M; Brito, Maria Jose MJ; Christgen, Henriette H; Colpaert, Cecile C; Cserni, Bálint B; Cserni, Gábor G; Daemmrich, Maximilian E ME; Danebrock, Raihanatou R; Dedeurwaerdere, Franceska F; van Deurzen, Carolien Hm CH; Erber, Ramona R; Fathke, Christine C; Feist, Henning H; Fiche, Maryse M; Gonzalez, Claudia Aura CA; Ter Hoeve, Natalie D ND; Kooreman, Loes L; Krech, Till T; Kristiansen, Glen G; Kulka, Janina J; Laenger, Florian F; Lafos, Marcel M; Lehmann, Ulrich U; Martin-Martinez, Maria Dolores MD; Mueller, Sophie S; Pelz, Enrico E; Raap, Mieke M; Ravarino, Alberto A; Reineke-Plaass, Tanja T; Schaumann, Nora N; Schelfhout, Anne-Marie AM; De Schepper, Maxim M; Schlue, Jerome J; Van de Vijver, Koen K; Waelput, Wim W; Wellmann, Axel A; Graeser, Monika M; Gluz, Oleg O; Kuemmel, Sherko S; Nitz, Ulrike U; Harbeck, Nadia N; Desmedt, Christine C; Floris, Giuseppe G; Derksen, Patrick Wb PW; van Diest, Paul J PJ; Vincent-Salomon, Anne A; Kreipe, Hans H
Publication Date: 2022-03

Variant appearance in text: CDH1: L214P
PubMed Link: 34889530
Variant Present in the following documents:
  • Main text
  • CJP2-8-191.pdf
View BVdb publication page



Inter-observer agreement for the histological diagnosis of invasive lobular breast carcinoma.

The Journal Of Pathology. Clinical Research
Christgen, Matthias M; Kandt, Leonie Donata LD; Antonopoulos, Wiebke W; Bartels, Stephan S; Van Bockstal, Mieke R MR; Bredt, Martin M; Brito, Maria Jose MJ; Christgen, Henriette H; Colpaert, Cecile C; Cserni, Bálint B; Cserni, Gábor G; Daemmrich, Maximilian E ME; Danebrock, Raihanatou R; Dedeurwaerdere, Franceska F; van Deurzen, Carolien Hm CH; Erber, Ramona R; Fathke, Christine C; Feist, Henning H; Fiche, Maryse M; Gonzalez, Claudia Aura CA; Ter Hoeve, Natalie D ND; Kooreman, Loes L; Krech, Till T; Kristiansen, Glen G; Kulka, Janina J; Laenger, Florian F; Lafos, Marcel M; Lehmann, Ulrich U; Martin-Martinez, Maria Dolores MD; Mueller, Sophie S; Pelz, Enrico E; Raap, Mieke M; Ravarino, Alberto A; Reineke-Plaass, Tanja T; Schaumann, Nora N; Schelfhout, Anne-Marie AM; De Schepper, Maxim M; Schlue, Jerome J; Van de Vijver, Koen K; Waelput, Wim W; Wellmann, Axel A; Graeser, Monika M; Gluz, Oleg O; Kuemmel, Sherko S; Nitz, Ulrike U; Harbeck, Nadia N; Desmedt, Christine C; Floris, Giuseppe G; Derksen, Patrick Wb PW; van Diest, Paul J PJ; Vincent-Salomon, Anne A; Kreipe, Hans H
Publication Date: 2021-12-10

Variant appearance in text: CDH1: L214P
PubMed Link: 34889530
Variant Present in the following documents:
  • Main text
  • CJP2-8-191.pdf
View BVdb publication page



Diverse 'just-right' levels of chromosomal instability and their clinical implications in neoadjuvant treated gastric cancer.

British Journal Of Cancer
Kohlruss, Meike M; Krenauer, Marie M; Grosser, Bianca B; Pfarr, Nicole N; Jesinghaus, Moritz M; Slotta-Huspenina, Julia J; Novotny, Alexander A; Hapfelmeier, Alexander A; Schmidt, Thomas T; Steiger, Katja K; Gaida, Matthias M MM; Reiche, Magdalena M; Bauer, Lukas L; Ott, Katja K; Weichert, Wilko W; Keller, Gisela G
Publication Date: 2021-12

Variant appearance in text: CDH1: 641T>C; L214P
PubMed Link: 34671125
Variant Present in the following documents:
  • 41416_2021_1587_MOESM1_ESM.pdf
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: L214P
PubMed Link: 33809393
Variant Present in the following documents:
  • Main text
  • cancers-13-01269-s001.pdf
  • cancers-13-01269.pdf
View BVdb publication page



Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing.

Scientific Reports
Nemtsova, Marina V MV; Kalinkin, Alexey I AI; Kuznetsova, Ekaterina B EB; Bure, Irina V IV; Alekseeva, Ekaterina A EA; Bykov, Igor I II; Khorobrykh, Tatiana V TV; Mikhaylenko, Dmitry S DS; Tanas, Alexander S AS; Kutsev, Sergey I SI; Zaletaev, Dmitry V DV; Strelnikov, Vladimir V VV
Publication Date: 2020-01-16

Variant appearance in text: CDH1: L214P
PubMed Link: 31949278
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_57544.pdf
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: L214P
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: CDH1: L214P
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 3
View BVdb publication page



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

Gastrointestinal Endoscopy
Mi, Emma Z EZ; Mi, Ella Z EZ; di Pietro, Massimiliano M; O'Donovan, Maria M; Hardwick, Richard H RH; Richardson, Susan S; Ziauddeen, Hisham H; Fletcher, Paul C PC; Caldas, Carlos C; Tischkowitz, Marc M; Ragunath, Krish K; Fitzgerald, Rebecca C RC
Publication Date: 2018-02

Variant appearance in text: CDH1: 641T>C; Leu214Pro
PubMed Link: 28688938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic profile analysis of diffuse-type gastric cancers.

Genome Biology
Lee, Yeon-Su YS; Cho, Yun Sung YS; Lee, Geon Kook GK; Lee, Sunghoon S; Kim, Young-Woo YW; Jho, Sungwoong S; Kim, Hak-Min HM; Hong, Seung-Hyun SH; Hwang, Jung-Ah JA; Kim, Sook-young SY; Hong, Dongwan D; Choi, Il Ju IJ; Kim, Byung Chul BC; Kim, Byoung-Chul BC; Kim, Chul Hong CH; Choi, Hansol H; Kim, Youngju Y; Kim, Kyung Wook KW; Kong, Gu G; Kim, Hyung Lae HL; Bhak, Jong J; Lee, Seung Hoon SH; Lee, Jin Soo JS
Publication Date: 2014-04-01

Variant appearance in text: CDH1: L214P
PubMed Link: 24690483
Variant Present in the following documents:
  • gb-2014-15-4-r55-S1.pdf
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: L214P
PubMed Link: 22470475
Variant Present in the following documents:
  • Main text
  • pone.0033783.pdf
View BVdb publication page