Publications:

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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: E336D

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: CDH1: 1008G>T; E336D

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 3
• Table_2.xlsx, sheet 2

View BVdb publication page

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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: 1008G>T; Glu336Asp

PubMed Link: 36436516

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Understanding protein structural changes for oncogenic missense variants.

Heliyon

Hernandez, Rolando R; Facelli, Julio C JC

Publication Date: 2021-01

Variant appearance in text: CDH1: 1008G>T; Glu336Asp

PubMed Link: 33553733

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.

Chinese Journal Of Cancer Research = Chung-Kuo Yen Cheng Yen Chiu

Ji, Ke K; Ao, Sheng S; He, Liu L; Zhang, Lijiao L; Feng, Li L; Lyu, Guoqing G

Publication Date: 2020-08

Variant appearance in text: CDH1: 1008G>T

PubMed Link: 32963463

Variant Present in the following documents:

• Main text
• cjcr-32-4-508.pdf

View BVdb publication page

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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: 1008G>T; E336D

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

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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Jama Network Open

Karam, Rachid R; Conner, Blair B; LaDuca, Holly H; McGoldrick, Kelly K; Krempely, Kate K; Richardson, Marcy E ME; Zimmermann, Heather H; Gutierrez, Stephanie S; Reineke, Patrick P; Hoang, Lily L; Allen, Kyle K; Yussuf, Amal A; Farber-Katz, Suzette S; Rana, Huma Q HQ; Culver, Samantha S; Lee, John J; Nashed, Sarah S; Toppmeyer, Deborah D; Collins, Debra D; Haynes, Ginger G; Pesaran, Tina T; Dolinsky, Jill S JS; Tippin Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E

Publication Date: 2019-10-02

Variant appearance in text: CDH1: 1008G>T; E336D

PubMed Link: 31642931

Variant Present in the following documents:

• jamanetwopen-2-e1913900-s001.pdf

View BVdb publication page

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Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).

Journal Of Medical Genetics

Lo, Winifred W; Zhu, Bin B; Sabesan, Arvind A; Wu, Ho-Hsiang HH; Powers, Astin A; Sorber, Rebecca A RA; Ravichandran, Sarangan S; Chen, Ina I; McDuffie, Lucas A LA; Quadri, Humair S HS; Beane, Joal D JD; Calzone, Kathleen K; Miettinen, Markku M MM; Hewitt, Stephen M SM; Koh, Christopher C; Heller, Theo T; Wacholder, Sholom S; Rudloff, Udo U

Publication Date: 2019-06

Variant appearance in text: CDH1: 1008G>T

PubMed Link: 30745422

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1008G>T

PubMed Link: 30661051

Variant Present in the following documents:

• Main text
• jmedgenet-2018-105807.pdf

View BVdb publication page

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Merging perspectives: genotype-directed molecular therapy for hereditary diffuse gastric cancer (HDGC) and E-cadherin-EGFR crosstalk.

Clinical And Translational Medicine

Li, Dandan D; Lo, Winifred W; Rudloff, Udo U

Publication Date: 2018-02-22

Variant appearance in text: CDH1: 1008G>T

PubMed Link: 29468433

Variant Present in the following documents:

• Main text
• 40169_2018_Article_184.pdf

View BVdb publication page

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Transcriptomic profiling and quantitative high-throughput (qHTS) drug screening of CDH1 deficient hereditary diffuse gastric cancer (HDGC) cells identify treatment leads for familial gastric cancer.

Journal Of Translational Medicine

Chen, Ina I; Mathews-Greiner, Lesley L; Li, Dandan D; Abisoye-Ogunniyan, Abisola A; Ray, Satyajit S; Bian, Yansong Y; Shukla, Vivek V; Zhang, Xiaohu X; Guha, Raj R; Thomas, Craig C; Gryder, Berkley B; Zacharia, Athina A; Beane, Joal D JD; Ravichandran, Sarangan S; Ferrer, Marc M; Rudloff, Udo U

Publication Date: 2017-05-01

Variant appearance in text: CDH1: 1008G>T

PubMed Link: 28460635

Variant Present in the following documents:

• Main text
• 12967_2017_Article_1197.pdf

View BVdb publication page

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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: E336D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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