Publications:

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Proceedings of the 26th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Genética Humana) Coimbra, 17-19 November 2022.

Medicine

Publication Date: 2023-03-31

Variant appearance in text: CDH1: 1901C>T

PubMed Link: 37000104

Variant Present in the following documents:

• Main text
• medi-102-e33154.pdf

View BVdb publication page

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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: A634V

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Current advances in understanding the molecular profile of hereditary diffuse gastric cancer and its clinical implications.

Journal Of Experimental & Clinical Cancer Research : Cr

Lim, Hui Jun HJ; Zhuang, Lizhe L; Fitzgerald, Rebecca C RC

Publication Date: 2023-03-04

Variant appearance in text: CDH1: 1901C>T

PubMed Link: 36869400

Variant Present in the following documents:

• 13046_2023_Article_2622.pdf

View BVdb publication page

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Multilevel proteomic analyses reveal molecular diversity between diffuse-type and intestinal-type gastric cancer.

Nature Communications

Shi, Wenhao W; Wang, Yushen Y; Xu, Chen C; Li, Yan Y; Ge, Sai S; Bai, Bin B; Zhang, Kecheng K; Wang, Yunzhi Y; Zheng, Nairen N; Wang, Juan J; Wang, Shiqi S; Ji, Gang G; Li, Jipeng J; Nie, Yongzhan Y; Liang, Wenquan W; Wu, Xiaosong X; Cui, Jianxin J; Wang, Yi Y; Chen, Lin L; Zhao, Qingchuan Q; Shen, Lin L; He, Fuchu F; Qin, Jun J; Ding, Chen C

Publication Date: 2023-02-14

Variant appearance in text: CDH1: 1901C>T; A634V

PubMed Link: 36788224

Variant Present in the following documents:

• 41467_2023_35797_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics

Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G

Publication Date: 2023-01-03

Variant appearance in text: CDH1: 1901C>T; rs121964878

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.xlsx, sheet 1

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: 1901C>T

PubMed Link: 36436516

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: CDH1: A634V

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: CDH1: A634V

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Proceedings of the 25th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Genética Humana).

Medicine

Publication Date: 2022-07-29

Variant appearance in text: CDH1: 1901C>T; A634V

PubMed Link: 35905201

Variant Present in the following documents:

• Main text
• medi-101-e29313.pdf

View BVdb publication page

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The Clonal Relationship Between the Ductal and Lobular Components of Mixed Ductal-Lobular Carcinomas Suggested a Ductal Origin in Most Tumors.

The American Journal Of Surgical Pathology

Pérez-Mies, Belén B; Caniego-Casas, Tamara T; Carretero-Barrio, Irene I; Biscuola, Michele M; López-García, María A MA; Hardisson, David D; Rosas, Marta M; López Rodríguez, María J MJ; Cristóbal, Eva E; Pizarro, David D; Rosa-Rosa, Juan M JM; Palacios, José J

Publication Date: 2022-11-01

Variant appearance in text: CDH1: A634V

PubMed Link: 35877198

Variant Present in the following documents:

• pas-46-1545-s003.xlsx, sheet 1

View BVdb publication page

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Differential Impacts on Tensional Homeostasis of Gastric Cancer Cells Due to Distinct Domain Variants of E-Cadherin.

Cancers

Xu, Han H; Bunde, Katie A KA; Figueiredo, Joana J; Seruca, Raquel R; Smith, Michael L ML; Stamenović, Dimitrije D

Publication Date: 2022-05-29

Variant appearance in text: CDH1: A634V

PubMed Link: 35681670

Variant Present in the following documents:

• cancers-14-02690.pdf

View BVdb publication page

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Designing highly multiplex PCR primer sets with Simulated Annealing Design using Dimer Likelihood Estimation (SADDLE).

Nature Communications

Xie, Nina G NG; Wang, Michael X MX; Song, Ping P; Mao, Shiqi S; Wang, Yifan Y; Yang, Yuxia Y; Luo, Junfeng J; Ren, Shengxiang S; Zhang, David Yu DY

Publication Date: 2022-04-11

Variant appearance in text: CDH1: 1901C>T

PubMed Link: 35410464

Variant Present in the following documents:

• 41467_2022_29500_MOESM5_ESM.xlsx, sheet 8

View BVdb publication page

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A Comprehensive Survey of Genomic Mutations in Breast Cancer Reveals Recurrent Neoantigens as Potential Therapeutic Targets.

Frontiers In Oncology

Zhou, Si S; Liu, Songming S; Zhao, Lijian L; Sun, Hai-Xi HX

Publication Date: 2022

Variant appearance in text: CDH1: A634V

PubMed Link: 35387130

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Dynamic changes in gene alterations during chemotherapy in metastatic castrate resistant prostate cancer.

Scientific Reports

Tan, Winston W; Zheng, Tiantian T; Wang, Amy A; Roacho, Joanna J; Thao, Seng S; Du, Pan P; Jia, Shidong S; Yu, Jianjun J; King, Bonnie L BL; Kohli, Manish M

Publication Date: 2022-03-18

Variant appearance in text: CDH1: 1901C>T; Ala634Val

PubMed Link: 35304525

Variant Present in the following documents:

• 41598_2022_8520_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Integrins and Epithelial-Mesenchymal Cooperation in the Tumor Microenvironment of Muscle-Invasive Lethal Cancers.

Frontiers In Cell And Developmental Biology

Harryman, William L WL; Marr, Kendra D KD; Nagle, Ray B RB; Cress, Anne E AE

Publication Date: 2022

Variant appearance in text: CDH1: A634V

PubMed Link: 35300411

Variant Present in the following documents:

• Main text
• fcell-10-837585.pdf

View BVdb publication page

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: CDH1: A634V

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6

View BVdb publication page

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CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.

British Journal Of Cancer

Adib, Elio E; El Zarif, Talal T; Nassar, Amin H AH; Akl, Elie W EW; Abou Alaiwi, Sarah S; Mouhieddine, Tarek H TH; Esplin, Edward D ED; Hatchell, Kathryn K; Nielsen, Sarah M SM; Rana, Huma Q HQ; Choueiri, Toni K TK; Kwiatkowski, David J DJ; Sonpavde, Guru G

Publication Date: 2022-03

Variant appearance in text: CDH1: 1901C>T; Ala634Val

PubMed Link: 34949788

Variant Present in the following documents:

• 41416_2021_1673_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: CDH1: 1901C>T; A634V

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: CDH1: A634V

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.

Cancers

Barbosa-Matos, Rita R; Leal Silva, Rafaela R; Garrido, Luzia L; Aguiar, Ana Cerqueira AC; Garcia-Pelaez, José J; André, Ana A; Seixas, Susana S; Sousa, Sónia Passos SP; Ferro, Luísa L; Vilarinho, Lúcia L; Gullo, Irene I; Devezas, Vitor V; Oliveira, Renata R; Fernandes, Susana S; Costa, Susy Cabral SC; Magalhães, André A; Baptista, Manuela M; Carneiro, Fátima F; Pinheiro, Hugo H; Castedo, Sérgio S; Oliveira, Carla C

Publication Date: 2021-09-04

Variant appearance in text: CDH1: 1901C>T; A634V

PubMed Link: 34503274

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrin β1 orchestrates the abnormal cell-matrix attachment and invasive behaviour of E-cadherin dysfunctional cells.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Figueiredo, Joana J; Ferreira, Rui M RM; Xu, Han H; Gonçalves, Margarida M; Barros-Carvalho, André A; Cravo, Janine J; Maia, André F AF; Carneiro, Patrícia P; Figueiredo, Céu C; Smith, Michael L ML; Stamenović, Dimitrije D; Morais-de-Sá, Eurico E; Seruca, Raquel R

Publication Date: 2022-01

Variant appearance in text: CDH1: 1901C>T; A634V

PubMed Link: 34486077

Variant Present in the following documents:

• Main text
• 10120_2021_Article_1239.pdf

View BVdb publication page

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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: A634V

PubMed Link: 34267306

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immunogenomics of Colorectal Cancer Response to Checkpoint Blockade: Analysis of the KEYNOTE 177 Trial and Validation Cohorts.

Gastroenterology

Bortolomeazzi, Michele M; Keddar, Mohamed Reda MR; Montorsi, Lucia L; Acha-Sagredo, Amelia A; Benedetti, Lorena L; Temelkovski, Damjan D; Choi, Subin S; Petrov, Nedyalko N; Todd, Katrina K; Wai, Patty P; Kohl, Johannes J; Denner, Tamara T; Nye, Emma E; Goldstone, Robert R; Ward, Sophia S; Wilson, Gareth A GA; Al Bakir, Maise M; Swanton, Charles C; John, Susan S; Miles, James J; Larijani, Banafshe B; Kunene, Victoria V; Fontana, Elisa E; Arkenau, Hendrik-Tobias HT; Parker, Peter J PJ; Rodriguez-Justo, Manuel M; Shiu, Kai-Keen KK; Spencer, Jo J; Ciccarelli, Francesca D FD

Publication Date: 2021-10

Variant appearance in text: CDH1: A634V

PubMed Link: 34197832

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.

Cancers

Massari, Giulia G; Magnoni, Francesca F; Favia, Giorgio G; Peradze, Nickolas N; Veronesi, Paolo P; La Vecchia, Carlo C; Corso, Giovanni G

Publication Date: 2021-05-12

Variant appearance in text: CDH1: A634V

PubMed Link: 34066044

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: CDH1: A634V

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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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: A634V

PubMed Link: 33809393

Variant Present in the following documents:

• Main text
• cancers-13-01269-s001.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: Ala634Val

PubMed Link: 33553733

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: CDH1: 1901C>T

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Hereditary Diffuse Gastric Cancer: A Comparative Cohort Study According to Pathogenic Variant Status.

Cancers

Marwitz, Tim T; Hüneburg, Robert R; Spier, Isabel I; Lau, Jan-Frederic JF; Kristiansen, Glen G; Lingohr, Philipp P; Kalff, Jörg C JC; Aretz, Stefan S; Nattermann, Jacob J; Strassburg, Christian P CP

Publication Date: 2020-12-11

Variant appearance in text: CDH1: 1901C>T

PubMed Link: 33322525

Variant Present in the following documents:

• Main text
• cancers-12-03726.pdf

View BVdb publication page

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Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Plos Medicine

Zivanovic Bujak, Andjelija A; Weng, Chen-Fang CF; Silva, Maria João MJ; Yeung, Miriam M; Lo, Louisa L; Ftouni, Sarah S; Litchfield, Cassandra C; Ko, Yi-An YA; Kuykhoven, Keilly K; Van Geelen, Courtney C; Chandrashekar, Sushma S; Dawson, Mark A MA; Loi, Sherene S; Wong, Stephen Q SQ; Dawson, Sarah-Jane SJ

Publication Date: 2020-10

Variant appearance in text: CDH1: A634V

PubMed Link: 33001984

Variant Present in the following documents:

• pmed.1003363.s013.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: CDH1: A634V

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.

Current Oncology (Toronto, Ont.)

Aronson, M M; Swallow, C C; Govindarajan, A A; Semotiuk, K K; Cohen, Z Z; Kaurah, P P; Velsher, L L; Ambus, I I; Buckley, K K; Forster-Gibson, C C; Meschino, W S WS; Blumenthal, A A; Kim, R H RH; Brar, S S

Publication Date: 2020-04

Variant appearance in text: CDH1: 1901C>T

PubMed Link: 32489267

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: CDH1: 1901C>T; A634V

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: CDH1: A634V

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Comprehensive pharmacogenomic characterization of gastric cancer.

Genome Medicine

Sa, Jason K JK; Hong, Jung Yong JY; Lee, In-Kyoung IK; Kim, Ju-Sun JS; Sim, Moon-Hee MH; Kim, Ha Jung HJ; An, Ji Yeong JY; Sohn, Tae Sung TS; Lee, Joon Ho JH; Bae, Jae Moon JM; Kim, Sung S; Kim, Kyoung-Mee KM; Kim, Seung Tae ST; Park, Se Hoon SH; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Her, Nam-Gu NG; Lee, Yeri Y; Cho, Hee Jin HJ; Shin, Yong Jae YJ; Kim, Misuk M; Koo, Harim H; Kim, Mirinae M; Seo, Yun Jee YJ; Kim, Ja Yeon JY; Choi, Min-Gew MG; Nam, Do-Hyun DH; Lee, Jeeyun J

Publication Date: 2020-02-18

Variant appearance in text: CDH1: A634V

PubMed Link: 32070411

Variant Present in the following documents:

• 13073_2020_717_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: CDH1: A634V

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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: 1901C>T; A634V

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: 1901C>T; A634V

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: Ala634Val

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: CDH1: Ala634Val

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: CDH1: 1901C>T; A634V

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

Human Mutation

Lee, Kristy K; Krempely, Kate K; Roberts, Maegan E ME; Anderson, Michael J MJ; Carneiro, Fatima F; Chao, Elizabeth E; Dixon, Katherine K; Figueiredo, Joana J; Ghosh, Rajarshi R; Huntsman, David D; Kaurah, Pardeep P; Kesserwan, Chimene C; Landrith, Tyler T; Li, Shuwei S; Mensenkamp, Arjen R AR; Oliveira, Carla C; Pardo, Carolina C; Pesaran, Tina T; Richardson, Matthew M; Slavin, Thomas P TP; Spurdle, Amanda B AB; Trapp, Mackenzie M; Witkowski, Leora L; Yi, Charles S CS; Zhang, Liying L; Plon, Sharon E SE; Schrader, Kasmintan A KA; Karam, Rachid R

Publication Date: 2018-11

Variant appearance in text: CDH1: 1901C>T

PubMed Link: 30311375

Variant Present in the following documents:

• Main text

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: CDH1: 1901C>T; A634V

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: CDH1: A634V

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

View BVdb publication page

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Germline mutations in hereditary diffuse gastric cancer.

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

Zhang, Hao H; Feng, Mengmeng M; Feng, Yi Y; Bu, Zhaode Z; Li, Ziyu Z; Jia, Shuqin S; Ji, Jiafu J

Publication Date: 2018-02

Variant appearance in text: CDH1: 1901C>T

PubMed Link: 29545726

Variant Present in the following documents:

• Main text

View BVdb publication page

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A proteomic landscape of diffuse-type gastric cancer.

Nature Communications

Ge, Sai S; Xia, Xia X; Ding, Chen C; Zhen, Bei B; Zhou, Quan Q; Feng, Jinwen J; Yuan, Jiajia J; Chen, Rui R; Li, Yumei Y; Ge, Zhongqi Z; Ji, Jiafu J; Zhang, Lianhai L; Wang, Jiayuan J; Li, Zhongwu Z; Lai, Yumei Y; Hu, Ying Y; Li, Yanyan Y; Li, Yilin Y; Gao, Jing J; Chen, Lin L; Xu, Jianming J; Zhang, Chunchao C; Jung, Sung Yun SY; Choi, Jong Min JM; Jain, Antrix A; Liu, Mingwei M; Song, Lei L; Liu, Wanlin W; Guo, Gaigai G; Gong, Tongqing T; Huang, Yin Y; Qiu, Yang Y; Huang, Wenwen W; Shi, Tieliu T; Zhu, Weimin W; Wang, Yi Y; He, Fuchu F; Shen, Lin L; Qin, Jun J

Publication Date: 2018-03-08

Variant appearance in text: CDH1: 1901C>T; A634V

PubMed Link: 29520031

Variant Present in the following documents:

• 41467_2018_3121_MOESM5_ESM.xlsx, sheet 8

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: CDH1: A634V; rs121964878

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer.

International Journal Of Molecular Sciences

Melo, Soraia S; Figueiredo, Joana J; Fernandes, Maria Sofia MS; Gonçalves, Margarida M; Morais-de-Sá, Eurico E; Sanches, João Miguel JM; Seruca, Raquel R

Publication Date: 2017-12-12

Variant appearance in text: CDH1: A634V

PubMed Link: 29231860

Variant Present in the following documents:

• Main text
• ijms-18-02687.pdf

View BVdb publication page

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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: 1901C>T; A634V

PubMed Link: 29156750

Variant Present in the following documents:

• oncotarget-08-85680-s002.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CDH1: 1901C>T; Ala634Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Roles for E-cadherin cell surface regulation in cancer.

Molecular Biology Of The Cell

Petrova, Yuliya I YI; Schecterson, Leslayann L; Gumbiner, Barry M BM

Publication Date: 2016-11-01

Variant appearance in text: CDH1: A634V

PubMed Link: 27582386

Variant Present in the following documents:

• Main text
• 3233.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: CDH1: A634V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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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: 1901C>T; A634V

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Quantification of topological features in cell meshes to explore E-cadherin dysfunction.

Scientific Reports

Mestre, Tânia T; Figueiredo, Joana J; Ribeiro, Ana Sofia AS; Paredes, Joana J; Seruca, Raquel R; Sanches, João Miguel JM

Publication Date: 2016-05-06

Variant appearance in text: CDH1: A634V

PubMed Link: 27151223

Variant Present in the following documents:

• srep25101.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: A634V

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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Uncovering the genomic heterogeneity of multifocal breast cancer.

The Journal Of Pathology

Desmedt, Christine C; Fumagalli, Debora D; Pietri, Elisabetta E; Zoppoli, Gabriele G; Brown, David D; Nik-Zainal, Serena S; Gundem, Gunes G; Rothé, Françoise F; Majjaj, Samira S; Garuti, Anna A; Carminati, Enrico E; Loi, Sherene S; Van Brussel, Thomas T; Boeckx, Bram B; Maetens, Marion M; Mudie, Laura L; Vincent, Delphine D; Kheddoumi, Naima N; Serra, Luigi L; Massa, Ilaria I; Ballestrero, Alberto A; Amadori, Dino D; Salgado, Roberto R; de Wind, Alexandre A; Lambrechts, Diether D; Piccart, Martine M; Larsimont, Denis D; Campbell, Peter J PJ; Sotiriou, Christos C

Publication Date: 2015-08

Variant appearance in text: CDH1: 1901C>T; A634V

PubMed Link: 25850943

Variant Present in the following documents:

• path0236-0457-sd9.xlsx, sheet 1

View BVdb publication page

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Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

European Journal Of Human Genetics : Ejhg

Sanches, João Miguel JM; Figueiredo, Joana J; Fonseca, Martina M; Durães, Cecília C; Melo, Soraia S; Esménio, Sofia S; Seruca, Raquel R

Publication Date: 2015-08

Variant appearance in text: CDH1: 1901C>T; Ala634Val

PubMed Link: 25388006

Variant Present in the following documents:

• Main text
• ejhg2014240a.pdf

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: CDH1: A634V

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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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: A634V

PubMed Link: 24690483

Variant Present in the following documents:

• gb-2014-15-4-r55-S1.pdf

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: CDH1: A634V

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.

Journal Of Human Genetics

Lefevre, Jérémie H JH; Bonilla, Carolina C; Colas, Chrystelle C; Winney, Bruce B; Johnstone, Elaine E; Tonks, Susan S; Day, Tammy T; Hutnik, Katarzyna K; Boumertit, Abdelhamid A; Soubrier, Florent F; Midgley, Rachel R; Kerr, David D; Parc, Yann Y; Bodmer, Walter F WF

Publication Date: 2012-11-26

Variant appearance in text: CDH1: A634V

PubMed Link: 22875147

Variant Present in the following documents:

• Main text

View BVdb publication page

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The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC.

European Journal Of Human Genetics : Ejhg

Figueiredo, Joana J; Söderberg, Ola O; Simões-Correia, Joana J; Grannas, Karin K; Suriano, Gianpaolo G; Seruca, Raquel R

Publication Date: 2013-03

Variant appearance in text: CDH1: A634V

PubMed Link: 22850631

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: A634V

PubMed Link: 22470475

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: CDH1: A634V

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Genetic screening for familial gastric cancer.

Hereditary Cancer In Clinical Practice

Oliveira, Carla C; Suriano, Gianpaolo G; Ferreira, Paulo P; Canedo, Paulo P; Kaurah, Pardeep P; Mateus, Rita R; Ferreira, Ana A; Ferreira, António C AC; Oliveira, Maria José MJ; Figueiredo, Céu C; Carneiro, Fátima F; Keller, Gisela G; Huntsman, David D; Machado, José Carlos JC; Seruca, Raquel R

Publication Date: 2004-05-15

Variant appearance in text: CDH1: A634V

PubMed Link: 20233471

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of cellular networks on disease comorbidity.

Molecular Systems Biology

Park, Juyong J; Lee, Deok-Sun DS; Christakis, Nicholas A NA; Barabási, Albert-László AL

Publication Date: 2009

Variant appearance in text: CDH1: ALA634VAL

PubMed Link: 19357641

Variant Present in the following documents:

• msb200916-s1.pdf

View BVdb publication page

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CDH1/E-cadherin germline mutations in early-onset gastric cancer.

Journal Of Medical Genetics

Bacani, J T JT; Soares, M M; Zwingerman, R R; di Nicola, N N; Senz, J J; Riddell, R R; Huntsman, D G DG; Gallinger, S S

Publication Date: 2006-11

Variant appearance in text: CDH1: A634V

PubMed Link: 16801346

Variant Present in the following documents:

• Main text

View BVdb publication page

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