CDH1 c.1792C>T ;(p.R598*)

Variant ID: 16-68855984-C-T

NM_004360.3(CDH1):c.1792C>T;(p.R598*)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience.

Genes
Calvello, Mariarosaria M; Marabelli, Monica M; Gandini, Sara S; Marino, Elena E; Bernard, Loris L; Dal Molin, Matteo M; Di Cola, Giulia G; Zanzottera, Cristina C; Corso, Giovanni G; Fazio, Nicola N; Gervaso, Lorenzo L; Fumagalli Romario, Uberto U; Barberis, Massimo M; Guerrieri-Gonzaga, Aliana A; Bertario, Lucio L; Serrano, Davide D; Bonanni, Bernardo B
Publication Date: 2023-05-13

Variant appearance in text: CDH1: 1792C>T; Arg598Ter
PubMed Link: 37239438
Variant Present in the following documents:
  • genes-14-01077.pdf
View BVdb publication page



Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Breast Cancer Research : Bcr
Miyashita, Minoru M; Bell, Joshua S K JSK; Wenric, Stephane S; Karaesmen, Ezgi E; Rhead, Brooke B; Kase, Matthew M; Kaneva, Kristiyana K; De La Vega, Francisco M FM; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Khramtsova, Galina G; Liu, Fang F; Zhao, Fangyuan F; Howard, Frederick M FM; Nanda, Rita R; Beaubier, Nike N; White, Kevin P KP; Huo, Dezheng D; Olopade, Olufunmilayo I OI
Publication Date: 2023-05-25

Variant appearance in text: CDH1: 1792C>T; R598*
PubMed Link: 37231433
Variant Present in the following documents:
  • 13058_2023_1627_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



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: 1792C>T
PubMed Link: 36436516
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: CDH1: 1792C>T; R598W
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



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: R598X
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Genome Medicine
Berrino, Enrico E; Annaratone, Laura L; Bellomo, Sara Erika SE; Ferrero, Giulio G; Gagliardi, Amedeo A; Bragoni, Alberto A; Grassini, Dora D; Guarrera, Simonetta S; Parlato, Caterina C; Casorzo, Laura L; Panero, Mara M; Sarotto, Ivana I; Giordano, Silvia S; Cereda, Matteo M; Montemurro, Filippo F; Ponzone, Riccardo R; Crosetto, Nicola N; Naccarati, Alessio A; Sapino, Anna A; Marchiò, Caterina C
Publication Date: 2022-08-29

Variant appearance in text: CDH1: 1792C>T; Arg598Ter
PubMed Link: 36038884
Variant Present in the following documents:
  • 13073_2022_1104_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology
Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M
Publication Date: 2022-10

Variant appearance in text: CDH1: 1792C>T; R598*
PubMed Link: 35971249
Variant Present in the following documents:
  • MOL2-16-3689-s005.xlsx, sheet 1
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: CDH1: R598*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: CDH1: R598*; rs121964877
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



The upregulation of circFNDC3B aggravates the recurrence after endoscopic submucosal dissection (ESD) in early gastric cancer (EGC) patients.

Scientific Reports
Zhang, Jing J; Bai, Jun J; Zhu, Hongbing H; Li, Wei W; An, Qunxing Q; Wang, Dongxu D
Publication Date: 2022-04-13

Variant appearance in text: CDH1: R598X
PubMed Link: 35418175
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_7154.pdf
View BVdb publication page



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

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: CDH1: R598*
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
View BVdb publication page



Circulating Tumor DNA as a Predictive Marker of Recurrence for Patients With Stage II-III Breast Cancer Treated With Neoadjuvant Therapy.

Frontiers In Oncology
Lin, Po-Han PH; Wang, Ming-Yang MY; Lo, Chiao C; Tsai, Li-Wei LW; Yen, Tzu-Chun TC; Huang, Thomas Yoyan TY; Huang, Wei-Chih WC; Yang, Karen K; Chen, Chih-Kai CK; Fan, Sheng-Chih SC; Kuo, Sung-Hsin SH; Huang, Chiun-Sheng CS
Publication Date: 2021

Variant appearance in text: CDH1: R598X
PubMed Link: 34868925
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine
Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T
Publication Date: 2021-11-08

Variant appearance in text: CDH1: R598*
PubMed Link: 34749812
Variant Present in the following documents:
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 8
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 9
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 12
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 6
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 5
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 16
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 14
View BVdb publication page



Evaluation of confocal laser endomicroscopy for detection of occult gastric carcinoma in CDH1 variant carriers.

Journal Of Gastrointestinal Oncology
Schueler, Samuel A SA; Gamble, Lauren A LA; Curtin, Bryan F BF; Ruff, Samantha M SM; Connolly, Maureen M; Hannah, Cathleen C; Quezado, Martha M; Miettinen, Markku M; George, Maureen M; Blakely, Andrew M AM; Hernandez, Jonathan M JM; Heller, Theo T; Koh, Christopher C; Davis, Jeremy L JL
Publication Date: 2021-04

Variant appearance in text: CDH1: 1792C>T
PubMed Link: 34012620
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: CDH1: R598X
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



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

Cancers
Marwitz, Tim T; Hüneburg, Robert R; Spier, Isabel I; Lau, Jan-Frederic JF; Kristiansen, Glen G; Lingohr, Philipp P; Kalff, Jörg C JC; Aretz, Stefan S; Nattermann, Jacob J; Strassburg, Christian P CP
Publication Date: 2020-12-11

Variant appearance in text: CDH1: 1792C>T; Arg598*
PubMed Link: 33322525
Variant Present in the following documents:
  • Main text
  • cancers-12-03726.pdf
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: CDH1: R598*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



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

Plos Medicine
Zivanovic Bujak, Andjelija A; Weng, Chen-Fang CF; Silva, Maria João MJ; Yeung, Miriam M; Lo, Louisa L; Ftouni, Sarah S; Litchfield, Cassandra C; Ko, Yi-An YA; Kuykhoven, Keilly K; Van Geelen, Courtney C; Chandrashekar, Sushma S; Dawson, Mark A MA; Loi, Sherene S; Wong, Stephen Q SQ; Dawson, Sarah-Jane SJ
Publication Date: 2020-10

Variant appearance in text: CDH1: R598*
PubMed Link: 33001984
Variant Present in the following documents:
  • pmed.1003363.s013.xlsx, sheet 1
View BVdb publication page



Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma.

Chinese Journal Of Cancer Research = Chung-Kuo Yen Cheng Yen Chiu
Ji, Ke K; Ao, Sheng S; He, Liu L; Zhang, Lijiao L; Feng, Li L; Lyu, Guoqing G
Publication Date: 2020-08

Variant appearance in text: CDH1: 1792C>T
PubMed Link: 32963463
Variant Present in the following documents:
  • Main text
  • cjcr-32-4-508.pdf
View BVdb publication page



Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity.

Embo Molecular Medicine
Koch, Claudia C; Kuske, Andra A; Joosse, Simon A SA; Yigit, Gökhan G; Sflomos, George G; Thaler, Sonja S; Smit, Daniel J DJ; Werner, Stefan S; Borgmann, Kerstin K; Gärtner, Sebastian S; Mossahebi Mohammadi, Parinaz P; Battista, Laura L; Cayrefourcq, Laure L; Altmüller, Janine J; Salinas-Riester, Gabriela G; Raithatha, Kaamini K; Zibat, Arne A; Goy, Yvonne Y; Ott, Leonie L; Bartkowiak, Kai K; Tan, Tuan Zea TZ; Zhou, Qing Q; Speicher, Michael R MR; Müller, Volkmar V; Gorges, Tobias M TM; Jücker, Manfred M; Thiery, Jean-Paul JP; Brisken, Cathrin C; Riethdorf, Sabine S; Alix-Panabières, Catherine C; Pantel, Klaus K
Publication Date: 2020-09-07

Variant appearance in text: CDH1: 1792C>T; R598*
PubMed Link: 32667137
Variant Present in the following documents:
  • Main text
  • EMMM-12-e11908.pdf
View BVdb publication page



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

Current Oncology (Toronto, Ont.)
Aronson, M M; Swallow, C C; Govindarajan, A A; Semotiuk, K K; Cohen, Z Z; Kaurah, P P; Velsher, L L; Ambus, I I; Buckley, K K; Forster-Gibson, C C; Meschino, W S WS; Blumenthal, A A; Kim, R H RH; Brar, S S
Publication Date: 2020-04

Variant appearance in text: CDH1: 1792C>T
PubMed Link: 32489267
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Yadav, Siddhartha S; Hu, Chunling C; Hart, Steven N SN; Boddicker, Nicholas N; Polley, Eric C EC; Na, Jie J; Gnanaolivu, Rohan R; Lee, Kun Y KY; Lindstrom, Tricia T; Armasu, Sebastian S; Fitz-Gibbon, Patrick P; Ghosh, Karthik K; Stan, Daniela L DL; Pruthi, Sandhya S; Neal, Lonzetta L; Sandhu, Nicole N; Rhodes, Deborah J DJ; Klassen, Christine C; Peethambaram, Prema P PP; Haddad, Tufia C TC; Olson, Janet E JE; Hoskin, Tanya L TL; Goetz, Matthew P MP; Domchek, Susan M SM; Boughey, Judy C JC; Ruddy, Kathryn J KJ; Couch, Fergus J FJ
Publication Date: 2020-05-01

Variant appearance in text: CDH1: Arg598X
PubMed Link: 32125938
Variant Present in the following documents:
  • JCO.19.02190.pdf
View BVdb publication page



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: R598X
PubMed Link: 32070411
Variant Present in the following documents:
  • 13073_2020_717_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: 1792C>T
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



The Genomic and Immune Landscapes of Lethal Metastatic Breast Cancer.

Cell Reports
De Mattos-Arruda, Leticia L; Sammut, Stephen-John SJ; Ross, Edith M EM; Bashford-Rogers, Rachael R; Greenstein, Erez E; Markus, Havell H; Morganella, Sandro S; Teng, Yvonne Y; Maruvka, Yosef Y; Pereira, Bernard B; Rueda, Oscar M OM; Chin, Suet-Feung SF; Contente-Cuomo, Tania T; Mayor, Regina R; Arias, Alexandra A; Ali, H Raza HR; Cope, Wei W; Tiezzi, Daniel D; Dariush, Aliakbar A; Dias Amarante, Tauanne T; Reshef, Dan D; Ciriaco, Nikaoly N; Martinez-Saez, Elena E; Peg, Vicente V; Ramon Y Cajal, Santiago S; Cortes, Javier J; Vassiliou, George G; Getz, Gad G; Nik-Zainal, Serena S; Murtaza, Muhammed M; Friedman, Nir N; Markowetz, Florian F; Seoane, Joan J; Caldas, Carlos C
Publication Date: 2019-05-28

Variant appearance in text: CDH1: R598*
PubMed Link: 31141692
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
  • mmc3.xlsx, sheet 1
View BVdb publication page



Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly.

International Journal Of Cancer
Tervasmäki, Anna A; Mantere, Tuomo T; Eshraghi, Leila L; Laurila, Niina N; Tuppurainen, Hanna H; Ronkainen, Veli-Pekka VP; Koivuluoma, Susanna S; Devarajan, Raman R; Peltoketo, Hellevi H; Pylkäs, Katri K
Publication Date: 2019-10-15

Variant appearance in text: CDH1: R598X
PubMed Link: 30809794
Variant Present in the following documents:
  • Main text
  • IJC-145-2070.pdf
View BVdb publication page



Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).

Journal Of Medical Genetics
Lo, Winifred W; Zhu, Bin B; Sabesan, Arvind A; Wu, Ho-Hsiang HH; Powers, Astin A; Sorber, Rebecca A RA; Ravichandran, Sarangan S; Chen, Ina I; McDuffie, Lucas A LA; Quadri, Humair S HS; Beane, Joal D JD; Calzone, Kathleen K; Miettinen, Markku M MM; Hewitt, Stephen M SM; Koh, Christopher C; Heller, Theo T; Wacholder, Sholom S; Rudloff, Udo U
Publication Date: 2019-06

Variant appearance in text: CDH1: 1792C>T
PubMed Link: 30745422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice
Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S
Publication Date: 2019

Variant appearance in text: CDH1: 1792C>T; Arg598*
PubMed Link: 30680046
Variant Present in the following documents:
  • 13053_2018_102_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Germline CDH1 mutations are a significant contributor to the high frequency of early-onset diffuse gastric cancer cases in New Zealand Māori.

Familial Cancer
Hakkaart, Christopher C; Ellison-Loschmann, Lis L; Day, Robert R; Sporle, Andrew A; Koea, Jonathan J; Harawira, Pauline P; Cheng, Soo S; Gray, Michelle M; Whaanga, Tracey T; Pearce, Neil N; Guilford, Parry P
Publication Date: 2019-01

Variant appearance in text: CDH1: 1792C>T; Arg598*
PubMed Link: 29589180
Variant Present in the following documents:
  • Main text
  • 10689_2018_Article_80.pdf
View BVdb publication page



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: 1792C>T; R598*
PubMed Link: 29156750
Variant Present in the following documents:
  • oncotarget-08-85680-s002.xlsx, sheet 1
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Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status.

Gastrointestinal Endoscopy
Mi, Emma Z EZ; Mi, Ella Z EZ; di Pietro, Massimiliano M; O'Donovan, Maria M; Hardwick, Richard H RH; Richardson, Susan S; Ziauddeen, Hisham H; Fletcher, Paul C PC; Caldas, Carlos C; Tischkowitz, Marc M; Ragunath, Krish K; Fitzgerald, Rebecca C RC
Publication Date: 2018-02

Variant appearance in text: CDH1: 1792C>T
PubMed Link: 28688938
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1792C>T; Arg598Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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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: CDH1: R598X
PubMed Link: 28522256
Variant Present in the following documents:
  • NIHMS1058936-supplement-Table_S4.xlsx, sheet 1
  • NIHMS1058936-supplement-Table_S3.xlsx, sheet 1
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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: 1792C>T; R598*
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: CDH1: 1792C>T; R598*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 3
View BVdb publication page



Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.

Nature Communications
De Mattos-Arruda, Leticia L; Mayor, Regina R; Ng, Charlotte K Y CKY; Weigelt, Britta B; Martínez-Ricarte, Francisco F; Torrejon, Davis D; Oliveira, Mafalda M; Arias, Alexandra A; Raventos, Carolina C; Tang, Jiabin J; Guerini-Rocco, Elena E; Martínez-Sáez, Elena E; Lois, Sergio S; Marín, Oscar O; de la Cruz, Xavier X; Piscuoglio, Salvatore S; Towers, Russel R; Vivancos, Ana A; Peg, Vicente V; Ramon y Cajal, Santiago S; Carles, Joan J; Rodon, Jordi J; González-Cao, María M; Tabernero, Josep J; Felip, Enriqueta E; Sahuquillo, Joan J; Berger, Michael F MF; Cortes, Javier J; Reis-Filho, Jorge S JS; Seoane, Joan J
Publication Date: 2015-11-10

Variant appearance in text: CDH1: R598*
PubMed Link: 26554728
Variant Present in the following documents:
  • ncomms9839-s1.pdf
  • ncomms9839-s3.xlsx, sheet 1
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Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA.

European Journal Of Human Genetics : Ejhg
Bordeira-Carriço, Renata R; Ferreira, Daniel D; Mateus, Denisa D DD; Pinheiro, Hugo H; Pêgo, Ana Paula AP; Santos, Manuel A S MA; Oliveira, Carla C
Publication Date: 2014-09

Variant appearance in text: CDH1: 1792C>T
PubMed Link: 24424122
Variant Present in the following documents:
  • Main text
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Early-onset diffuse gastric cancer associated with a de novo large genomic deletion of CDH1 gene.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Sugimoto, Shinya S; Yamada, Hidetaka H; Takahashi, Masazumi M; Morohoshi, Yuichi Y; Yamaguchi, Naotaka N; Tsunoda, Yuya Y; Hayashi, Hiroyuki H; Sugimura, Haruhiko H; Komatsu, Hirokazu H
Publication Date: 2014-10

Variant appearance in text: CDH1: 1792C>T; R598X
PubMed Link: 23812922
Variant Present in the following documents:
  • Main text
  • 10120_2013_Article_278.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: R598X
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: ARG598TER
PubMed Link: 19357641
Variant Present in the following documents:
  • msb200916-s1.pdf
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