Publications:

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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine

El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W

Publication Date: 2023-03-14

Variant appearance in text: CDH1: 48+6C>T

PubMed Link: 36916446

Variant Present in the following documents:

• EMMM-15-e16834-s012.xlsx, sheet 1

View BVdb publication page

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Association of ATM, CDH1 and TP53 genes polymorphisms with familial breast cancer in patients of Khyber Pakhtunkhwa, Pakistan.

African Health Sciences

Rahim, Abdur A; Zakiullah, ; Jan, Asif A; Ali, Johar J; Khuda, Fazli F; Muhammad, Basir B; Khan, Hamayun H; Shah, Hussain H; Akbar, Rani R

Publication Date: 2022-09

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 36910346

Variant Present in the following documents:

• AFHS2203-0145.pdf

View BVdb publication page

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Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.

Frontiers In Oncology

Chen, Dongmei D; Zhang, Chenyang C; Yuan, Mengqi M; Zhang, Ying Y; Liu, Qing Q; Wan, Donggui D

Publication Date: 2022

Variant appearance in text: CDH1: 48+6C>T

PubMed Link: 36518309

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs3743674

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs3743674

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: rs3743674

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs3743674

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.

Genes & Diseases

Cerrato-Izaguirre, Dennis D; Chirino, Yolanda I YI; García-Cuellar, Claudia M CM; Santibáñez-Andrade, Miguel M; Prada, Diddier D; Hernández-Guerrero, Angélica A; Larraga, Octavio Alonso OA; Camacho, Javier J; Sánchez-Pérez, Yesennia Y

Publication Date: 2022-07

Variant appearance in text: CDH1: 48+6C>T

PubMed Link: 35685475

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences

Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q

Publication Date: 2021

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 34104084

Variant Present in the following documents:

• ijmsv18p2532s2.xlsx, sheet 1
• ijmsv18p2532s2.xlsx, sheet 3
• ijmsv18p2532s2.xlsx, sheet 4

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs3743674

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Therapeutic Advances In Medical Oncology

Yang, Hong H; Liu, Zhimin Z; Wang, Yufang Y; Li, Jun J; Li, Ruiqian R; Wang, Qilin Q; Hu, Chen C; Jiang, Haiyang H; Wu, Hongyi H; Song, Lele L; Bai, Yu Y

Publication Date: 2020

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 33240400

Variant Present in the following documents:

• Main text
• 10.1177_1758835920970845.pdf

View BVdb publication page

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A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports

García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-31

Variant appearance in text: CDH1: 48+6C>T

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1
• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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A novel loss-of-function mutation of PBK associated with human kidney stone disease.

Scientific Reports

Nettuwakul, Choochai C; Sawasdee, Nunghathai N; Praditsap, Oranud O; Rungroj, Nanyawan N; Pasena, Arnat A; Dechtawewat, Thanyaporn T; Deejai, Nipaporn N; Sritippayawan, Suchai S; Rojsatapong, Santi S; Chaowagul, Wipada W; Yenchitsomanus, Pa-Thai PT

Publication Date: 2020-06-24

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 32581305

Variant Present in the following documents:

• 41598_2020_66936_MOESM1_ESM.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs3743674

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: CDH1: 48+6C>T

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.

International Journal Of Molecular Sciences

Norero, Enrique E; Alarcon, M Alejandra MA; Hakkaart, Christopher C; de Mayo, Tomas T; Mellado, Cecilia C; Garrido, Marcelo M; Aguayo, Gloria G; Lagos, Marcela M; Torres, Javiera J; Calvo, Alfonso A; Guilford, Parry P; Corvalan, Alejandro H AH

Publication Date: 2019-10-09

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 31600923

Variant Present in the following documents:

• Main text
• ijms-20-04980.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs3743674

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: rs3743674

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.

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

Guindalini, Rodrigo Santa Cruz RSC; Cormedi, Marina Cândido Visontai MCV; Maistro, Simone S; Pasini, Fátima Solange FS; Branas, Priscila Cristina Abduch Adas PCAA; Dos Santos, Liliane L; de Lima Pereira, Gláucia Fernanda GF; de Bock, Geertruida Hendrika GH; Saccaro, Daniela Marques DM; Katayama, Maria Lucia Hirata MLH; Faraj, Sheila Friedrich SF; Safatle-Ribeiro, Adriana A; Ribeiro Junior, Ulysses U; Diz, Maria Del Pilar Estevez MDPE; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Chammas, Roger R; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2019-09

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 30895400

Variant Present in the following documents:

• Main text
• 10120_2019_Article_945.pdf

View BVdb publication page

---

Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.

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

Guindalini, Rodrigo Santa Cruz RSC; Cormedi, Marina Cândido Visontai MCV; Maistro, Simone S; Pasini, Fátima Solange FS; Branas, Priscila Cristina Abduch Adas PCAA; Dos Santos, Liliane L; de Lima Pereira, Gláucia Fernanda GF; de Bock, Geertruida Hendrika GH; Saccaro, Daniela Marques DM; Katayama, Maria Lucia Hirata MLH; Faraj, Sheila Friedrich SF; Safatle-Ribeiro, Adriana A; Ribeiro Junior, Ulysses U; Diz, Maria Del Pilar Estevez MDPE; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Chammas, Roger R; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2019-09

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 30895400

Variant Present in the following documents:

• Main text
• 10120_2019_Article_945.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer.

Bmc Cancer

Bustos-Carpinteyro, Andrea Rebeca AR; Oliveira, Carla C; Sousa, Abel A; Oliveira, Patricia P; Pinheiro, Hugo H; Carvalho, Joana J; Magaña-Torres, María Teresa MT; Flores-Miramontes, María Guadalupe MG; Aguilar-Lemarroy, Adriana A; Jave-Suárez, Luis Felipe LF; Peregrina-Sandoval, Jorge J; Cruz-Ramos, José Alfonso JA; Sánchez-López, Josefina Yoaly JY

Publication Date: 2019-01-14

Variant appearance in text: rs3743674

PubMed Link: 30642281

Variant Present in the following documents:

• Main text

View BVdb publication page

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High Frequency of ERBB2 Activating Mutations in Invasive Lobular Breast Carcinoma with Pleomorphic Features.

Cancers

Rosa-Rosa, Juan Manuel JM; Caniego-Casas, Tamara T; Leskela, Susanna S; Cristobal, Eva E; González-Martínez, Silvia S; Moreno-Moreno, Esther E; López-Miranda, Elena E; Holgado, Esther E; Pérez-Mies, Belén B; Garrido, Pilar P; Palacios, José J

Publication Date: 2019-01-11

Variant appearance in text: rs3743674

PubMed Link: 30641862

Variant Present in the following documents:

• Main text
• cancers-11-00074.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics

Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J

Publication Date: 2018-06-22

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 29929473

Variant Present in the following documents:

• 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
• 12881_2018_605_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis.

International Journal Of Molecular Sciences

Fornasarig, Mara M; Magris, Raffaella R; De Re, Valli V; Bidoli, Ettore E; Canzonieri, Vincenzo V; Maiero, Stefania S; Viel, Alessandra A; Cannizzaro, Renato R

Publication Date: 2018-06-06

Variant appearance in text: rs3743674

PubMed Link: 29882764

Variant Present in the following documents:

• Main text
• ijms-19-01682.pdf

View BVdb publication page

---

Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports

Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I

Publication Date: 2018-05-16

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: CDH1: 48+6C>T

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s004.xlsx, sheet 1
• pone.0195761.s005.xlsx, sheet 1

View BVdb publication page

---

Characterizing Metastatic HER2-Positive Gastric Cancer at the CDH1 Haplotype.

International Journal Of Molecular Sciences

Caggiari, Laura L; Miolo, Gianmaria G; Buonadonna, Angela A; Basile, Debora D; Santeufemia, Davide A DA; Cossu, Antonio A; Palmieri, Giuseppe G; De Zorzi, Mariangela M; Fornasarig, Mara M; Alessandrini, Lara L; Canzonieri, Vincenzo V; Lo Re, Giovanni G; Puglisi, Fabio F; Steffan, Agostino A; Cannizzaro, Renato R; De Re, Valli V

Publication Date: 2017-12-23

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 29295527

Variant Present in the following documents:

• Main text
• ijms-19-00047.pdf

View BVdb publication page

---

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3743674

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Plos One

Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM

Publication Date: 2017

Variant appearance in text: rs3743674

PubMed Link: 28076423

Variant Present in the following documents:

• pone.0167581.s001.xlsx, sheet 1

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 1

View BVdb publication page

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CDH1 mutations in gastric cancer patients from northern Brazil identified by Next- Generation Sequencing (NGS).

Genetics And Molecular Biology

El-Husny, Antonette A; Raiol-Moraes, Milene M; Amador, Marcos M; Ribeiro-Dos-Santos, André M AM; Montagnini, André A; Barbosa, Silvanira S; Silva, Artur A; Assumpção, Paulo P; Ishak, Geraldo G; Santos, Sidney S; Pinto, Pablo P; Cruz, Aline A; Ribeiro-Dos-Santos, Ândrea Â

Publication Date: 2016-05-13

Variant appearance in text: rs3743674

PubMed Link: 27192129

Variant Present in the following documents:

• Main text
• 1415-4757-gmb-1678-4685-GMB-2014-0342.pdf

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs3743674

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

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Association between E-cadherin (CDH1) polymorphisms and pancreatic cancer risk in Han Chinese population.

International Journal Of Clinical And Experimental Pathology

Zhao, Lei L; Wang, Ying-Xue YX; Xi, Mian M; Liu, Shi-Liang SL; Zhang, Peng P; Luo, Li-Ling LL; Liu, Meng-Zhong MZ

Publication Date: 2015

Variant appearance in text: rs3743674

PubMed Link: 26191293

Variant Present in the following documents:

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Association of genetic variants in and promoter hypermethylation of CDH1 with gastric cancer: a meta-analysis.

Medicine

Jing, Huiquan H; Dai, Fei F; Zhao, Chuntao C; Yang, Juan J; Li, Lizhuo L; Kota, Pravina P; Mao, Lijuan L; Xiang, Kaimin K; Zheng, Changqing C; Yang, Jingyun J

Publication Date: 2014-10

Variant appearance in text: rs3743674

PubMed Link: 25340495

Variant Present in the following documents:

• Main text
• medi-93-e107.pdf

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CDH1 polymorphisms and haplotypes in sporadic diffuse and intestinal gastric cancer: a case-control study based on direct sequencing analysis.

World Journal Of Surgical Oncology

Chu, Chi-Ming CM; Chen, Cheng-Jueng CJ; Chan, De-Chuan DC; Wu, Hurng-Sheng HS; Liu, Yao-Chi YC; Shen, Chen-Yang CY; Chang, Tzu-Ming TM; Yu, Jyh-Cherng JC; Harn, Horng-Jyh HJ; Yu, Cheng-Ping CP; Yang, Ming-Hsin MH

Publication Date: 2014-03-31

Variant appearance in text: rs3743674

PubMed Link: 24684952

Variant Present in the following documents:

• Main text
• 1477-7819-12-80.pdf

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Novel CDH1 germline mutations identified in Chinese gastric cancer patients.

World Journal Of Gastroenterology

Chen, Qin-Hua QH; Deng, Wei W; Li, Xiao-Wei XW; Liu, Xiu-Fang XF; Wang, Jing-Mei JM; Wang, Li-Feng LF; Xiao, Nong N; He, Qiong Q; Wang, Ya-Ping YP; Fan, Yi-Mei YM

Publication Date: 2013-02-14

Variant appearance in text: CDH1: 48+6C>T; rs3743674

PubMed Link: 23431106

Variant Present in the following documents:

• Main text

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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: rs3743674

PubMed Link: 22875147

Variant Present in the following documents:

• Main text

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Discovery of common SNPs in the miR-205/200 family-regulated epithelial to mesenchymal transition pathway and their association with risk for non-small cell lung cancer.

International Journal Of Molecular Epidemiology And Genetics

Leng, Shuguang S; Bernauer, Amanda M AM; Zhai, Rihong R; Tellez, Carmen S CS; Su, Li L; Burki, Elizabeth A EA; Picchi, Maria A MA; Stidley, Christine A CA; Crowell, Richard E RE; Christiani, David C DC; Belinsky, Steven A SA

Publication Date: 2011

Variant appearance in text: rs3743674

PubMed Link: 21686129

Variant Present in the following documents:

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