CDH1 c.1118C>T ;(p.P373L)

Variant ID: 16-68846147-C-T

NM_004360.3(CDH1):c.1118C>T;(p.P373L)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


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: P373L
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



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: P373L
PubMed Link: 34066044
Variant Present in the following documents:
  • Main text
  • cancers-13-02321.pdf
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: P373L
PubMed Link: 33809393
Variant Present in the following documents:
  • Main text
  • cancers-13-01269.pdf
  • cancers-13-01269-s001.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: P373L
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer.

World Journal Of Clinical Oncology
Manchana, Tarinee T; Phowthongkum, Prasit P; Teerapakpinyo, Chinachote C
Publication Date: 2019-11-24

Variant appearance in text: CDH1: 1118C>T; Pro373Leu
PubMed Link: 31815095
Variant Present in the following documents:
  • Main text
  • WJCO-10-358.pdf
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: 1118C>T; Pro373Leu
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Cancer Science
Shao, Di D; Cheng, Shaomin S; Guo, Fengming F; Zhu, Changbin C; Yuan, Yuying Y; Hu, Kunling K; Wang, Zhe Z; Meng, Xuan X; Jin, Xin X; Xiong, Yun Y; Chai, Xianghua X; Li, Hong H; Zhang, Yu Y; Zhang, Hongyun H; Liu, Jihong J; Ye, Mingzhi M
Publication Date: 2020-02

Variant appearance in text: CDH1: 1118C>T; Pro373Leu; rs587782359
PubMed Link: 31742824
Variant Present in the following documents:
  • CAS-111-647-s002.xlsx, sheet 1
View BVdb publication page



TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: CDH1: P373L; rs587782359
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 7
  • pcbi.1007453.s004.xlsx, sheet 2
  • pcbi.1007453.s002.xlsx, sheet 1
View BVdb publication page



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: 1118C>T; Pro373Leu
PubMed Link: 31511843
Variant Present in the following documents:
  • Main text
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: CDH1: 1118C>T; P373L
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Cancer Medicine
Wang, Jiayu J; Li, Weiwei W; Shi, Yujian Y; Huang, Yan Y; Sun, Tao T; Tang, Lili L; Lu, Qing Q; Lei, Qiumo Q; Liao, Ning N; Jin, Feng F; Li, Hui H; Huang, Tao T; Qian, Jun J; Pang, Danmei D; Wang, Shusen S; Fan, Peizhi P; Wu, Xinhong X; Lin, Ying Y; Qin, Haiyan H; Xu, Binghe B
Publication Date: 2019-05

Variant appearance in text: CDH1: 1118C>T; Pro373Leu
PubMed Link: 30982232
Variant Present in the following documents:
  • CAM4-8-2074-s006.xlsx, sheet 1
  • CAM4-8-2074-s004.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: CDH1: 1118C>T; Pro373Leu
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7
View BVdb publication page



Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.

Npj Genomic Medicine
Chan, Sock Hoai SH; Chew, Winston W; Ishak, Nur Diana Binte NDB; Lim, Weng Khong WK; Li, Shao-Tzu ST; Tan, Sheng Hui SH; Teo, Jing Xian JX; Shaw, Tarryn T; Chang, Kenneth K; Chen, Yong Y; Iyer, Prasad P; Tan, Enrica Ee Kar EEK; Seng, Michaela Su-Fern MS; Chan, Mei Yoke MY; Tan, Ah Moy AM; Low, Sharon Yin Yee SYY; Soh, Shui Yen SY; Loh, Amos Hong Pheng AHP; Ngeow, Joanne J
Publication Date: 2018

Variant appearance in text: CDH1: P373L
PubMed Link: 30455982
Variant Present in the following documents:
  • Main text
  • 41525_2018_Article_70.pdf
View BVdb publication page



Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

Human Mutation
Lee, Kristy K; Krempely, Kate K; Roberts, Maegan E ME; Anderson, Michael J MJ; Carneiro, Fatima F; Chao, Elizabeth E; Dixon, Katherine K; Figueiredo, Joana J; Ghosh, Rajarshi R; Huntsman, David D; Kaurah, Pardeep P; Kesserwan, Chimene C; Landrith, Tyler T; Li, Shuwei S; Mensenkamp, Arjen R AR; Oliveira, Carla C; Pardo, Carolina C; Pesaran, Tina T; Richardson, Matthew M; Slavin, Thomas P TP; Spurdle, Amanda B AB; Trapp, Mackenzie M; Witkowski, Leora L; Yi, Charles S CS; Zhang, Liying L; Plon, Sharon E SE; Schrader, Kasmintan A KA; Karam, Rachid R
Publication Date: 2018-11

Variant appearance in text: CDH1: Pro373Leu
PubMed Link: 30311375
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Bayesian framework for efficient and accurate variant prediction.

Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018

Variant appearance in text: CDH1: 1118C>T; P373L
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
View BVdb publication page



Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

European Journal Of Human Genetics : Ejhg
Kievit, Anneke A; Tessadori, Federico F; Douben, Hannie H; Jordens, Ingrid I; Maurice, Madelon M; Hoogeboom, Jeannette J; Hennekam, Raoul R; Nampoothiri, Sheela S; Kayserili, Hülya H; Castori, Marco M; Whiteford, Margo M; Motter, Connie C; Melver, Catherine C; Cunningham, Michael M; Hing, Anne A; Kokitsu-Nakata, Nancy M NM; Vendramini-Pittoli, Siulan S; Richieri-Costa, Antonio A; Baas, Annette F AF; Breugem, Corstiaan C CC; Duran, Karen K; Massink, Maarten M; Derksen, Patrick W B PWB; van IJcken, Wilfred F J WFJ; van Unen, Leontine L; Santos-Simarro, Fernando F; Lapunzina, Pablo P; Gil-da Silva Lopes, Vera L VL; Lustosa-Mendes, Elaine E; Krall, Max M; Slavotinek, Anne A; Martinez-Glez, Victor V; Bakkers, Jeroen J; van Gassen, Koen L I KLI; de Klein, Annelies A; van den Boogaard, Marie-José H MH; van Haaften, Gijs G
Publication Date: 2018-02

Variant appearance in text: CDH1: Pro373Leu
PubMed Link: 29348693
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: P373L
PubMed Link: 29231860
Variant Present in the following documents:
  • ijms-18-02687.pdf
View BVdb publication page



Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Shindo, Koji K; Yu, Jun J; Suenaga, Masaya M; Fesharakizadeh, Shahriar S; Cho, Christy C; Macgregor-Das, Anne A; Siddiqui, Abdulrehman A; Witmer, P Dane PD; Tamura, Koji K; Song, Tae Jun TJ; Navarro Almario, Jose Alejandro JA; Brant, Aaron A; Borges, Michael M; Ford, Madeline M; Barkley, Thomas T; He, Jin J; Weiss, Matthew J MJ; Wolfgang, Christopher L CL; Roberts, Nicholas J NJ; Hruban, Ralph H RH; Klein, Alison P AP; Goggins, Michael M
Publication Date: 2017-10-20

Variant appearance in text: CDH1: P373L
PubMed Link: 28767289
Variant Present in the following documents:
  • Main text
View BVdb publication page



The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.

Npj Breast Cancer
Slavin, Thomas P TP; Maxwell, Kara N KN; Lilyquist, Jenna J; Vijai, Joseph J; Neuhausen, Susan L SL; Hart, Steven N SN; Ravichandran, Vignesh V; Thomas, Tinu T; Maria, Ann A; Villano, Danylo D; Schrader, Kasmintan A KA; Moore, Raymond R; Hu, Chunling C; Wubbenhorst, Bradley B; Wenz, Brandon M BM; D'Andrea, Kurt K; Robson, Mark E ME; Peterlongo, Paolo P; Bonanni, Bernardo B; Ford, James M JM; Garber, Judy E JE; Domchek, Susan M SM; Szabo, Csilla C; Offit, Kenneth K; Nathanson, Katherine L KL; Weitzel, Jeffrey N JN; Couch, Fergus J FJ
Publication Date: 2017

Variant appearance in text: CDH1: 1118C>T; Pro373Leu
PubMed Link: 28649662
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: 1118C>T; Pro373Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Nykamp, Keith K; Anderson, Michael M; Powers, Martin M; Garcia, John J; Herrera, Blanca B; Ho, Yuan-Yuan YY; Kobayashi, Yuya Y; Patil, Nila N; Thusberg, Janita J; Westbrook, Marjorie M; , ; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: CDH1: Pro373Leu
PubMed Link: 28492532
Variant Present in the following documents:
  • Main text
  • gim201737a.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: 1118C>T; P373L
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



Mismatch repair deficiency may be common in ductal adenocarcinoma of the prostate.

Oncotarget
Schweizer, Michael T MT; Cheng, Heather H HH; Tretiakova, Maria S MS; Vakar-Lopez, Funda F; Klemfuss, Nola N; Konnick, Eric Q EQ; Mostaghel, Elahe A EA; Nelson, Peter S PS; Yu, Evan Y EY; Montgomery, Bruce B; True, Lawrence D LD; Pritchard, Colin C CC
Publication Date: 2016-12-13

Variant appearance in text: CDH1: P373L
PubMed Link: 27756888
Variant Present in the following documents:
  • Main text
View BVdb publication page



Roles for E-cadherin cell surface regulation in cancer.

Molecular Biology Of The Cell
Petrova, Yuliya I YI; Schecterson, Leslayann L; Gumbiner, Barry M BM
Publication Date: 2016-11-01

Variant appearance in text: CDH1: P373L
PubMed Link: 27582386
Variant Present in the following documents:
  • Main text
  • 3233.pdf
View BVdb publication page



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: P373L
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Genetic screening analysis of patients with hereditary diffuse gastric cancer from northern and northeastern Brazil.

Hereditary Cancer In Clinical Practice
Moreira-Nunes, Caroline Aquino CA; Barros, Mariceli Baia Leão MBL; do Nascimento Borges, Bárbara B; Montenegro, Raquel Carvalho RC; Lamarão, Leticia Martins LM; Ribeiro, Helem Ferreira HF; Bona, Amanda Braga AB; Assumpção, Paulo Pimentel PP; Rey, Juan Antonio JA; Pinto, Giovanny Rebouças GR; Burbano, Rommel Rodriguez RR
Publication Date: 2014

Variant appearance in text: CDH1: P373L
PubMed Link: 25180051
Variant Present in the following documents:
  • 1897-4287-12-18.pdf
View BVdb publication page



Genomic profile analysis of diffuse-type gastric cancers.

Genome Biology
Lee, Yeon-Su YS; Cho, Yun Sung YS; Lee, Geon Kook GK; Lee, Sunghoon S; Kim, Young-Woo YW; Jho, Sungwoong S; Kim, Hak-Min HM; Hong, Seung-Hyun SH; Hwang, Jung-Ah JA; Kim, Sook-young SY; Hong, Dongwan D; Choi, Il Ju IJ; Kim, Byung Chul BC; Kim, Byoung-Chul BC; Kim, Chul Hong CH; Choi, Hansol H; Kim, Youngju Y; Kim, Kyung Wook KW; Kong, Gu G; Kim, Hyung Lae HL; Bhak, Jong J; Lee, Seung Hoon SH; Lee, Jin Soo JS
Publication Date: 2014-04-01

Variant appearance in text: CDH1: P373L
PubMed Link: 24690483
Variant Present in the following documents:
  • gb-2014-15-4-r55-S1.pdf
View BVdb publication page



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: P373L
PubMed Link: 22470475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.

Bmc Cancer
Corso, Giovanni G; Marrelli, Daniele D; Pascale, Valeria V; Vindigni, Carla C; Roviello, Franco F
Publication Date: 2012-01-06

Variant appearance in text: CDH1: P373L
PubMed Link: 22225527
Variant Present in the following documents:
  • 1471-2407-12-8.pdf
View BVdb publication page



Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research.

Journal Of Medical Genetics
Fitzgerald, Rebecca C RC; Hardwick, Richard R; Huntsman, David D; Carneiro, Fatima F; Guilford, Parry P; Blair, Vanessa V; Chung, Daniel C DC; Norton, Jeff J; Ragunath, Krishnadath K; Van Krieken, J Han JH; Dwerryhouse, Sarah S; Caldas, Carlos C; ,
Publication Date: 2010-07

Variant appearance in text: CDH1: P373L
PubMed Link: 20591882
Variant Present in the following documents:
  • jmedgenet74237.pdf
View BVdb publication page