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: V832M

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: N/A

PubMed Link: 36755093

Variant Present in the following documents:

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: 2494G>A; Val832Met

PubMed Link: 36436516

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: CDH1: V832M

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4

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: V832M

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: V832M

PubMed Link: 35300411

Variant Present in the following documents:

• Main text
• fcell-10-837585.pdf

View BVdb publication page

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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: CDH1: 2494G>A

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: rs35572355

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine

Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N

Publication Date: 2022-02-25

Variant appearance in text: CDH1: 2494G>A

PubMed Link: 35209950

Variant Present in the following documents:

• 13073_2022_1027_MOESM22_ESM.xls, sheet 1

View BVdb publication page

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Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer.

Npj Breast Cancer

Ji, Jung Hwan JH; Bae, Soong June SJ; Kim, Kyungsoo K; Chu, Chihhao C; Lee, Kyung-A KA; Kim, Yoonjung Y; Kim, Jee Hung JH; Jeong, Joon J; Ahn, Sung Gwe SG

Publication Date: 2022-02-16

Variant appearance in text: CDH1: 2494G>A; Val832Met

PubMed Link: 35173185

Variant Present in the following documents:

• 41523_2022_384_MOESM1_ESM.pdf

View BVdb publication page

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High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports

Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K

Publication Date: 2021-07

Variant appearance in text: CDH1: 2494G>A; Val832Met; rs35572355

PubMed Link: 34590037

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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: 2494G>A; V832M

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: V832M; rs35572355

PubMed Link: 34267306

Variant Present in the following documents:

• Main text
• 10038_2021_Article_960.pdf

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: V832M

PubMed Link: 34066044

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin.

Acta Neuropathologica

Förster, Alisa A; Brand, Frank F; Banan, Rouzbeh R; Hüneburg, Robert R; Weber, Christine A M CAM; Ewert, Wiebke W; Kronenberg, Jessica J; Previti, Christopher C; Elyan, Natalie N; Beyer, Ulrike U; Martens, Helge H; Hong, Bujung B; Bräsen, Jan H JH; Erbersdobler, Andreas A; Krauss, Joachim K JK; Stangel, Martin M; Samii, Amir A; Wolf, Stephan S; Preller, Matthias M; Aretz, Stefan S; Wiese, Bettina B; Hartmann, Christian C; Weber, Ruthild G RG

Publication Date: 2021-07

Variant appearance in text: CDH1: V832M

PubMed Link: 33929593

Variant Present in the following documents:

• Main text

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: V832M

PubMed Link: 33809393

Variant Present in the following documents:

• Main text
• cancers-13-01269-s001.pdf
• cancers-13-01269.pdf

View BVdb publication page

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Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Cancer Research And Treatment

Lee, Youngwoo Y; Lee, Soohyeon S; Sung, Jae Sook JS; Chung, Hee-Joon HJ; Lim, Ah-Reum AR; Kim, Ju Won JW; Choi, Yoon Ji YJ; Park, Kyong Hwa KH; Kim, Yeul Hong YH

Publication Date: 2021-01

Variant appearance in text: CDH1: V832M

PubMed Link: 32810930

Variant Present in the following documents:

• crt-2020-559-suppl3.pdf

View BVdb publication page

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Defined lifestyle and germline factors predispose Asian populations to gastric cancer.

Science Advances

Suzuki, Akihiro A; Katoh, Hiroto H; Komura, Daisuke D; Kakiuchi, Miwako M; Tagashira, Amane A; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Nagae, Genta G; Fukuda, Shiro S; Umeda, Takayoshi T; Totoki, Yasushi Y; Abe, Hiroyuki H; Ushiku, Tetsuo T; Matsuura, Tetsuya T; Sakai, Eiji E; Ohshima, Takashi T; Nomura, Sachiyo S; Seto, Yasuyuki Y; Shibata, Tatsuhiro T; Rino, Yasushi Y; Nakajima, Atsushi A; Fukayama, Masashi M; Ishikawa, Shumpei S; Aburatani, Hiroyuki H

Publication Date: 2020-05

Variant appearance in text: CDH1: V832M

PubMed Link: 32426482

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CDH1: 2494G>A; Val832Met; rs35572355

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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: V832M

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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Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.

Cancer Research And Treatment

Shin, Hee-Chul HC; Lee, Han-Byoel HB; Yoo, Tae-Kyung TK; Lee, Eun-Shin ES; Kim, Ryong Nam RN; Park, Boyoung B; Yoon, Kyong-Ah KA; Park, Charny C; Lee, Eun Sook ES; Moon, Hyeong-Gon HG; Noh, Dong-Young DY; Kong, Sun-Young SY; Han, Wonshik W

Publication Date: 2020-07

Variant appearance in text: CDH1: 2494G>A

PubMed Link: 32019277

Variant Present in the following documents:

• Main text
• crt-2019-559.pdf

View BVdb publication page

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Genomic profiling of multiple breast cancer reveals inter-lesional heterogeneity.

British Journal Of Cancer

Ahn, Soomin S; Kim, Hyun Jeong HJ; Kang, Eunyoung E; Kim, Eun-Kyu EK; Kim, Se Hyun SH; Kim, Jee Hyun JH; Kim, In Ah IA; Park, So Yeon SY

Publication Date: 2020-03

Variant appearance in text: CDH1: V832M

PubMed Link: 31929516

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M Mutation.

Journal Of Cancer

Shin, Saeam S; Kim, Yoonjung Y; Lee, Jin Kyung JK; Lee, Kyung-A KA

Publication Date: 2020

Variant appearance in text: CDH1: 2494G>A; V832M

PubMed Link: 31892987

Variant Present in the following documents:

• Main text

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: 2494G>A; V832M

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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Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: CDH1: V832M; rs35572355

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

View BVdb publication page

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A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).

Cold Spring Harbor Molecular Case Studies

Ritter, Deborah I DI; Rao, Shruti S; Kulkarni, Shashikant S; Madhavan, Subha S; Offit, Kenneth K; Plon, Sharon E SE

Publication Date: 2019-10

Variant appearance in text: CDH1: 2494G>A; Val832Met

PubMed Link: 31645350

Variant Present in the following documents:

• Main text
• MCS004739Rit.pdf

View BVdb publication page

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Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing.

Jco Precision Oncology

Hamilton, Jada G JG; Long, Jessica M JM; Brandt, Amanda C AC; Brower, Jamie J; Symecko, Heather H; Salo-Mullen, Erin E EE; Christian, Stephanie N SN; Harstad, Tricia T; Couch, Fergus J FJ; Garber, Judy E JE; Offit, Kenneth K; Robson, Mark E ME; Domchek, Susan M SM

Publication Date: 2019

Variant appearance in text: CDH1: 2494G>A; Val832Met

PubMed Link: 31511843

Variant Present in the following documents:

• Main text

View BVdb publication page

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High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.

Scientific Reports

Lee, Seung Eun SE; Lee, Hye Seung HS; Kim, Kyoung-Yeon KY; Park, Jung-Hoon JH; Roh, Hanseong H; Park, Ha Young HY; Kim, Wan-Seop WS

Publication Date: 2019-07-29

Variant appearance in text: CDH1: V832M

PubMed Link: 31358837

Variant Present in the following documents:

• Main text
• 41598_2019_47439_MOESM2_ESM.xlsx, sheet 5
• 41598_2019_Article_47439.pdf

View BVdb publication page

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Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: CDH1: 2494G>A; Val832Met; rs35572355

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: CDH1: 2494G>A; Val832Met; rs35572355

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

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: V832M

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: 2494G>A; V832M

PubMed Link: 29156750

Variant Present in the following documents:

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

View BVdb publication page

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Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients.

Oncotarget

Kim, Yoonjung Y; Cho, Mee-Yon MY; Kim, Juwon J; Kim, Sung Nam SN; Oh, Seoung Chul SC; Lee, Kyung-A KA

Publication Date: 2017-09-19

Variant appearance in text: CDH1: V832M

PubMed Link: 29050249

Variant Present in the following documents:

• Main text
• oncotarget-08-69888.pdf

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: CDH1: 2494G>A; Val832Met; rs35572355

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

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: 2494G>A; Val832Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: CDH1: V832M

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs35572355

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: V832M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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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: 2494G>A; Val832Met

PubMed Link: 25388006

Variant Present in the following documents:

• Main text
• ejhg2014240a.pdf

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: CDH1: V832M; rs35572355

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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Identification and characterization of CDH1 germline variants in sporadic gastric cancer patients and in individuals at risk of gastric cancer.

Plos One

Garziera, Marica M; Canzonieri, Vincenzo V; Cannizzaro, Renato R; Geremia, Silvano S; Caggiari, Laura L; De Zorzi, Mariangela M; Maiero, Stefania S; Orzes, Enrico E; Perin, Tiziana T; Zanussi, Stefania S; De Paoli, Paolo P; De Re, Valli V

Publication Date: 2013

Variant appearance in text: CDH1: V832M

PubMed Link: 24204729

Variant Present in the following documents:

• pone.0077035.pdf

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

American Journal Of Human Genetics

Dorschner, Michael O MO; Amendola, Laura M LM; Turner, Emily H EH; Robertson, Peggy D PD; Shirts, Brian H BH; Gallego, Carlos J CJ; Bennett, Robin L RL; Jones, Kelly L KL; Tokita, Mari J MJ; Bennett, James T JT; Kim, Jerry H JH; Rosenthal, Elisabeth A EA; Kim, Daniel S DS; , ; Tabor, Holly K HK; Bamshad, Michael J MJ; Motulsky, Arno G AG; Scott, C Ronald CR; Pritchard, Colin C CC; Walsh, Tom T; Burke, Wylie W; Raskind, Wendy H WH; Byers, Peter P; Hisama, Fuki M FM; Nickerson, Deborah A DA; Jarvik, Gail P GP

Publication Date: 2013-10-03

Variant appearance in text: CDH1: 2494G>A; Val832Met; rs35572355

PubMed Link: 24055113

Variant Present in the following documents:

• Main text

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: CDH1: 2494G>A; V832M; rs35572355

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

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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: V832M

PubMed Link: 22850631

Variant Present in the following documents:

• Main text

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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: V832M

PubMed Link: 22470475

Variant Present in the following documents:

• Main text
• pone.0033783.pdf

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Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers.

Journal Of Medical Genetics

Schrader, K A KA; Masciari, S S; Boyd, N N; Salamanca, C C; Senz, J J; Saunders, D N DN; Yorida, E E; Maines-Bandiera, S S; Kaurah, P P; Tung, N N; Robson, M E ME; Ryan, P D PD; Olopade, O I OI; Domchek, S M SM; Ford, J J; Isaacs, C C; Brown, P P; Balmana, J J; Razzak, A R AR; Miron, P P; Coffey, K K; Terry, M B MB; John, E M EM; Andrulis, I L IL; Knight, J A JA; O'Malley, F P FP; Daly, M M; Bender, P P; , ; Moore, R R; Southey, M C MC; Hopper, J L JL; Garber, J E JE; Huntsman, D G DG

Publication Date: 2011-01

Variant appearance in text: CDH1: V832M

PubMed Link: 20921021

Variant Present in the following documents:

• Main text
• jmedgenet79814.pdf

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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: V832M

PubMed Link: 20233471

Variant Present in the following documents:

• Main text

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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: VAL832MET

PubMed Link: 19357641

Variant Present in the following documents:

• msb200916-s1.pdf

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