CDH1 c.1876T>G ;(p.F626V)

Variant ID: 16-68856068-T-G

NM_004360.3(CDH1):c.1876T>G;(p.F626V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: 1876T>G
PubMed Link: 36436516
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



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
Publication Date: 2020-04-03

Variant appearance in text: CDH1: F626V
PubMed Link: 32260281
Variant Present in the following documents:
  • Main text
  • genes-11-00391.pdf
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: 1876T>G; F626V
PubMed Link: 29156750
Variant Present in the following documents:
  • oncotarget-08-85680-s002.xlsx, sheet 1
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: F626V
PubMed Link: 17660459
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fearnhead, Nicola S NS; Wilding, Jennifer L JL; Winney, Bruce B; Tonks, Susan S; Bartlett, Sylvia S; Bicknell, David C DC; Tomlinson, Ian P M IP; Mortensen, Neil J McC NJ; Bodmer, Walter F WF
Publication Date: 2004-11-09

Variant appearance in text: CDH1: F626V
PubMed Link: 15520370
Variant Present in the following documents:
  • Main text
View BVdb publication page