CDH1 c.1285C>T ;(p.P429S)

Variant ID: 16-68847363-C-T

NM_004360.3(CDH1):c.1285C>T;(p.P429S)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: 1285C>T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
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: P429S
PubMed Link: 33809393
Variant Present in the following documents:
  • Main text
  • cancers-13-01269-s001.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: 1285C>T; P429S
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Monitoring colorectal cancer following surgery using plasma circulating tumor DNA.

Oncology Letters
Sun, Xiao X; Huang, Tanxiao T; Cheng, Fangsheng F; Huang, Kaibing K; Liu, Ming M; He, Wan W; Li, Mingwei M; Zhang, Xiaoni X; Xu, Mingyan M; Chen, Shifu S; Xia, Ligang L
Publication Date: 2018-04

Variant appearance in text: CDH1: P429S
PubMed Link: 29541205
Variant Present in the following documents:
  • ol-15-04-4365.pdf
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: CDH1: P429S
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
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: P429S
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: P429S
PubMed Link: 22470475
Variant Present in the following documents:
  • Main text
  • pone.0033783.pdf
View BVdb publication page



CDH1/E-cadherin germline mutations in early-onset gastric cancer.

Journal Of Medical Genetics
Bacani, J T JT; Soares, M M; Zwingerman, R R; di Nicola, N N; Senz, J J; Riddell, R R; Huntsman, D G DG; Gallinger, S S
Publication Date: 2006-11

Variant appearance in text: CDH1: P429S
PubMed Link: 16801346
Variant Present in the following documents:
  • Main text
View BVdb publication page