CDH1 c.1531C>T ;(p.Q511*)

Variant ID: 16-68849628-C-T

NM_004360.3(CDH1):c.1531C>T;(p.Q511*)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Biomedicines
Cătană, Andreea A; Trifa, Adrian P AP; Achimas-Cadariu, Patriciu A PA; Bolba-Morar, Gabriela G; Lisencu, Carmen C; Kutasi, Eniko E; Chelaru, Vlad F VF; Muntean, Maximilian M; Martin, Daniela L DL; Antone, Nicoleta Z NZ; Fetica, Bogdan B; Pop, Florina F; Militaru, Mariela S MS
Publication Date: 2023-05-08

Variant appearance in text: CDH1: 1531C>T; Gln511Ter
PubMed Link: 37239058
Variant Present in the following documents:
  • biomedicines-11-01386.pdf
View BVdb publication page



A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

Cancer Cell
Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J
Publication Date: 2023-04-24

Variant appearance in text: CDH1: Q511X
PubMed Link: 37116492
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: CDH1: 1531C>T; Q511*
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



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: 1531C>T
PubMed Link: 35685475
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma.

Genes
Ben Aissa-Haj, Jihenne J; Kabbage, Maria M; Othmen, Houcemeddine H; Saulnier, Patrick P; Kettiti, Haifa Tounsi HT; Jaballah-Gabteni, Amira A; Ferah, Azer A; Medhioub, Mouna M; Khsiba, Amal A; Mahmoudi, Moufida M; Maaloul, Afifa A; Ben Nasr, Sonia S; Chelbi, Emna E; Abdelhak, Sonia S; Boubaker, M Samir MS; Azzouz, Mohamed Mousaddak MM; Rouleau, Etienne E
Publication Date: 2022-02-23

Variant appearance in text: CDH1: 1531C>T
PubMed Link: 35327954
Variant Present in the following documents:
  • genes-13-00400.pdf
View BVdb publication page



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: 1531C>T; Gln511*
PubMed Link: 34949788
Variant Present in the following documents:
  • 41416_2021_1673_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A novel stop codon mutation in exon 5 (c.639G>A) of the cadherin-1 gene in a Vietnamese man with hereditary diffuse gastric cancer: a case report.

Journal Of Medical Case Reports
Dang, Dzung Ngoc Thi DNT; Nguyen, Huong Thanh Thi HTT; Ngo, Hoa Dieu HD; Tran, Bac Manh BM; Vu, Anh Duc AD; Dang, Huy Quang HQ; Ta, Van Thanh VT
Publication Date: 2021-05-04

Variant appearance in text: CDH1: 1531C>T; Gln511*
PubMed Link: 33941229
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Q511*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



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: 1531C>T
PubMed Link: 33809393
Variant Present in the following documents:
  • cancers-13-01269.pdf
View BVdb publication page



Targetable alterations in invasive pleomorphic lobular carcinoma of the breast.

Breast Cancer Research : Bcr
Riedlinger, Gregory M GM; Joshi, Sonali S; Hirshfield, Kim M KM; Barnard, Nicola N; Ganesan, Shridar S
Publication Date: 2021-01-13

Variant appearance in text: CDH1: Q511*
PubMed Link: 33441174
Variant Present in the following documents:
  • Main text
  • 13058_2020_Article_1385.pdf
View BVdb publication page



The Reprimo-Like Gene Is an Epigenetic-Mediated Tumor Suppressor and a Candidate Biomarker for the Non-Invasive Detection of Gastric Cancer.

International Journal Of Molecular Sciences
Alarcón, María Alejandra MA; Olivares, Wilda W; Córdova-Delgado, Miguel M; Muñoz-Medel, Matías M; de Mayo, Tomas T; Carrasco-Aviño, Gonzalo G; Wichmann, Ignacio I; Landeros, Natalia N; Amigo, Julio J; Norero, Enrique E; Villarroel-Espíndola, Franz F; Riquelme, Arnoldo A; Garrido, Marcelo M; Owen, Gareth I GI; Corvalán, Alejandro H AH
Publication Date: 2020-12-12

Variant appearance in text: CDH1: 1531C>T
PubMed Link: 33322837
Variant Present in the following documents:
  • ijms-21-09472.pdf
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: CDH1: Q511*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



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: Q511*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: CDH1: 1531C>T; Q511*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: Q511*
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: CDH1: Q511*
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



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: 1531C>T; Gln511*; rs1131690810
PubMed Link: 31600923
Variant Present in the following documents:
  • Main text
  • ijms-20-04980-s001.pdf
  • ijms-20-04980.pdf
View BVdb publication page



Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Publication Date: 2019-02-08

Variant appearance in text: CDH1: Q511*
PubMed Link: 30736836
Variant Present in the following documents:
  • 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: CDH1: Q511*
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: CDH1: Q511*
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: CDH1: Q511*
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 4
View BVdb publication page



A murine preclinical syngeneic transplantation model for breast cancer precision medicine.

Science Advances
Federico, Lorenzo L; Chong, Zechen Z; Zhang, Dong D; McGrail, Daniel J DJ; Zhao, Wei W; Jeong, Kang Jin KJ; Vellano, Christopher P CP; Ju, Zhenlin Z; Gagea, Mihai M; Liu, Shuying S; Mitra, Shreya S; Dennison, Jennifer B JB; Lorenzi, Philip L PL; Cardnell, Robert R; Diao, Lixia L; Wang, Jing J; Lu, Yiling Y; Byers, Lauren A LA; Perou, Charles M CM; Lin, Shiaw-Yih SY; Mills, Gordon B GB
Publication Date: 2017-04

Variant appearance in text: CDH1: 1531C>T
PubMed Link: 28439535
Variant Present in the following documents:
  • 1600957_SM.pdf
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: CDH1: 1531C>T; Q511*
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s003.xlsx, sheet 1
  • pone.0170843.s004.xlsx, sheet 1
View BVdb publication page



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: 1531C>T; Q511*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: CDH1: Q511X
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
View BVdb publication page



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: Q511*
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



The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay.

Plos One
Chong, Hansook Kim HK; Wang, Tao T; Lu, Hsiao-Mei HM; Seidler, Sara S; Lu, Hong H; Keiles, Steven S; Chao, Elizabeth C EC; Stuenkel, A J AJ; Li, Xiang X; Elliott, Aaron M AM
Publication Date: 2014

Variant appearance in text: CDH1: 1531C>T; Q511*
PubMed Link: 24830819
Variant Present in the following documents:
  • Main text
  • pone.0097408.pdf
View BVdb publication page