CDH1 c.2266G>T ;(p.D756Y)

Variant ID: 16-68862178-G-T

NM_004360.3(CDH1):c.2266G>T;(p.D756Y)

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: 2266G>T
PubMed Link: 36436516
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: CDH1: 2266G>T; D756Y
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



The genomics and epigenetics of olfactory neuroblastoma: A systematic review.

Laryngoscope Investigative Otolaryngology
Kaur, Raman Preet RP; Izumchenko, Evgeny E; Blakaj, Dukagjin M DM; Mladkova, Nikol N; Lechner, Matt M; Beaumont, Thomas L TL; Floudas, Charalampos S CS; Gallia, Gary L GL; London, Nyall R NR
Publication Date: 2021-08

Variant appearance in text: CDH1: D756Y
PubMed Link: 34401496
Variant Present in the following documents:
  • Main text
View BVdb publication page



Durable Major Response With Pazopanib in Recurrent, Heavily Pretreated Metastatic Esthesioneuroblastoma Harboring a Fumarate Hydratase Mutation.

Jco Precision Oncology
Spengler, Marianne M; Wheelden, Megan M; Mackley, Heath B HB; Drabick, Joseph J JJ
Publication Date: 2021

Variant appearance in text: CDH1: D756Y
PubMed Link: 34036225
Variant Present in the following documents:
  • po-5-po.20.00486.pdf
View BVdb publication page



Comprehensive molecular profiling of advanced/metastatic olfactory neuroblastomas.

Plos One
Topcagic, Jasmina J; Feldman, Rebecca R; Ghazalpour, Anatole A; Swensen, Jeffrey J; Gatalica, Zoran Z; Vranic, Semir S
Publication Date: 2018

Variant appearance in text: CDH1: D756Y
PubMed Link: 29324814
Variant Present in the following documents:
  • Main text
  • pone.0191244.pdf
View BVdb publication page