CDH1 c.*54C>G

Variant ID: 16-68867456-C-G

NM_004360.3(CDH1):c.*54C>G

This variant was identified in 24 publications

View GRCh38 version.




Publications:


The utility of a type 2 diabetes polygenic score in addition to clinical variables for prediction of type 2 diabetes incidence in birth, youth and adult cohorts in an Indigenous study population.

Diabetologia
Wedekind, Lauren E LE; Mahajan, Anubha A; Hsueh, Wen-Chi WC; Chen, Peng P; Olaiya, Muideen T MT; Kobes, Sayuko S; Sinha, Madhumita M; Baier, Leslie J LJ; Knowler, William C WC; McCarthy, Mark I MI; Hanson, Robert L RL
Publication Date: 2023-03-02

Variant appearance in text: rs1801026
PubMed Link: 36862161
Variant Present in the following documents:
  • 125_2023_5870_MOESM1_ESM.pdf
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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs1801026
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Case Report: Male Lobular Breast Cancer in Hereditary Cancer Syndromes.

Frontiers In Oncology
Carnevali, Ileana I; Tedaldi, Gianluca G; Pensotti, Valeria V; Sahnane, Nora N; Micello, Donata D; Rovera, Francesca F; Sessa, Fausto F; Tibiletti, Maria Grazia MG
Publication Date: 2022

Variant appearance in text: rs1801026
PubMed Link: 35686104
Variant Present in the following documents:
  • Main text
  • fonc-12-891426.pdf
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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs1801026
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: rs1801026
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: rs1801026
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



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: rs1801026
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: rs1801026
PubMed Link: 30642281
Variant Present in the following documents:
  • Main text
  • 12885_2019_Article_5294.pdf
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Genetic polymorphisms in CDH1 are associated with endometrial carcinoma susceptibility among Chinese Han women.

Oncology Letters
Geng, Yue-Hang YH; Wang, Zi-Fan ZF; Jia, Yu-Mian YM; Zheng, Li-Yuan LY; Chen, Lan L; Liu, Dong-Ge DG; Li, Xiang-Hong XH; Tian, Xin-Xia XX; Fang, Wei-Gang WG
Publication Date: 2018-11

Variant appearance in text: rs1801026
PubMed Link: 30405831
Variant Present in the following documents:
  • Main text
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs1801026
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
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Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Gastroenterology
Cho, Soo Young SY; Park, Jun Won JW; Liu, Yang Y; Park, Young Soo YS; Kim, Ju Hee JH; Yang, Hanna H; Um, Hyejin H; Ko, Woo Ri WR; Lee, Byung Il BI; Kwon, Sun Young SY; Ryu, Seung Wan SW; Kwon, Chae Hwa CH; Park, Do Youn DY; Lee, Jae-Hyuk JH; Lee, Sang Il SI; Song, Kyu Sang KS; Hur, Hoon H; Han, Sang-Uk SU; Chang, Heekyung H; Kim, Su-Jin SJ; Kim, Byung-Sik BS; Yook, Jeong-Hwan JH; Yoo, Moon-Won MW; Kim, Beom-Su BS; Lee, In-Seob IS; Kook, Myeong-Cherl MC; Thiessen, Nina N; He, An A; Stewart, Chip C; Dunford, Andrew A; Kim, Jaegil J; Shih, Juliann J; Saksena, Gordon G; Cherniack, Andrew D AD; Schumacher, Steven S; Weiner, Amaro-Taylor AT; Rosenberg, Mara M; Getz, Gad G; Yang, Eun Gyeong EG; Ryu, Min-Hee MH; Bass, Adam J AJ; Kim, Hark Kyun HK
Publication Date: 2017-08

Variant appearance in text: rs1801026
PubMed Link: 28522256
Variant Present in the following documents:
  • NIHMS1058936-supplement-1.pdf
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs1801026
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Inherited variants in genes somatically mutated in thyroid cancer.

Plos One
Campo, Chiara C; Köhler, Aleksandra A; Figlioli, Gisella G; Elisei, Rossella R; Romei, Cristina C; Cipollini, Monica M; Bambi, Franco F; Hemminki, Kari K; Gemignani, Federica F; Landi, Stefano S; Försti, Asta A
Publication Date: 2017

Variant appearance in text: rs1801026
PubMed Link: 28410400
Variant Present in the following documents:
  • Main text
  • pone.0174995.pdf
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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: rs1801026
PubMed Link: 28076423
Variant Present in the following documents:
  • pone.0167581.s001.xlsx, sheet 1
View BVdb publication page



Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget
Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X
Publication Date: 2017-04-04

Variant appearance in text: rs1801026
PubMed Link: 28009986
Variant Present in the following documents:
  • oncotarget-08-22741-s003.xlsx, sheet 1
View BVdb publication page



E-cadherin genetic variants predict survival outcome in breast cancer patients.

Journal Of Translational Medicine
Memni, Hager H; Macherki, Yosra Y; Klayech, Zahra Z; Ben-Haj-Ayed, Ahlem A; Farhat, Karim K; Remadi, Yassmine Y; Gabbouj, Sallouha S; Mahfoudh, Wijden W; Bouzid, Nadia N; Bouaouina, Noureddine N; Chouchane, Lotfi L; Zakhama, Abdelfattah A; Hassen, Elham E
Publication Date: 2016-11-16

Variant appearance in text: rs1801026
PubMed Link: 27852262
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_1077.pdf
View BVdb publication page



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: rs1801026
PubMed Link: 27192129
Variant Present in the following documents:
  • Main text
  • 1415-4757-gmb-1678-4685-GMB-2014-0342.pdf
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Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Plos One
Olsson, Eleonor E; Winter, Christof C; George, Anthony A; Chen, Yilun Y; Törngren, Therese T; Bendahl, Pär-Ola PO; Borg, Åke Å; Gruvberger-Saal, Sofia K SK; Saal, Lao H LH
Publication Date: 2015

Variant appearance in text: rs1801026
PubMed Link: 26670335
Variant Present in the following documents:
  • pone.0144528.s005.xlsx, sheet 1
View BVdb publication page



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: rs1801026
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



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: rs1801026
PubMed Link: 25340495
Variant Present in the following documents:
  • Main text
  • medi-93-e107.pdf
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Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate.

Familial Cancer
Hozyasz, Kamil K KK; Mostowska, Adrianna A; Wójcicki, Piotr P; Lasota, Agnieszka A; Offert, Barbara B; Balcerek, Adam A; Dunin-Wilczyńska, Izabella I; Jagodziński, Paweł P PP
Publication Date: 2014-09

Variant appearance in text: rs1801026
PubMed Link: 24838934
Variant Present in the following documents:
  • Main text
  • 10689_2014_Article_9727.pdf
View BVdb publication page



Polymorphisms in the 3'-untranslated region of the CDH1 gene are a risk factor for primary gastric diffuse large B-cell lymphoma.

Haematologica
Jacobs, Gunnar G; Hellmig, Stephan S; Huse, Klaus K; Titz, Andrea A; Franke, Andre A; Kwiatkowski, Ruta R; Ott, Stephan S; Kosmahl, Markus M; Fischbach, Wolfgang W; Lucius, Ralph R; Klapper, Wolfram W; Fölsch, Ulrich R UR; Hampe, Jochen J; Schreiber, Stefan S; Rosenstiel, Philip P
Publication Date: 2011-07

Variant appearance in text: rs1801026
PubMed Link: 21459793
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer.

Human Molecular Genetics
Pinheiro, Hugo H; Bordeira-Carriço, Renata R; Seixas, Susana S; Carvalho, Joana J; Senz, Janine J; Oliveira, Patrícia P; Inácio, Patrícia P; Gusmão, Leonor L; Rocha, Jorge J; Huntsman, David D; Seruca, Raquel R; Oliveira, Carla C
Publication Date: 2010-03-01

Variant appearance in text: rs1801026
PubMed Link: 19965908
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

Human Reproduction Update
Tempfer, C B CB; Simoni, M M; Destenaves, B B; Fauser, B C J M BC
Publication Date: 2009

Variant appearance in text: rs1801026
PubMed Link: 18805939
Variant Present in the following documents:
  • Main text
  • dmn040.pdf
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