CDH1 c.1139_1197del ;(p.Y380*)

Variant ID: 16-68847216-GTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGAC-G

NM_004360.3(CDH1):c.1139_1197del;(p.Y380*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Atlas of Lobular Breast Cancer Models: Challenges and Strategic Directions.

Cancers
Sflomos, George G; Schipper, Koen K; Koorman, Thijs T; Fitzpatrick, Amanda A; Oesterreich, Steffi S; Lee, Adrian V AV; Jonkers, Jos J; Brunton, Valerie G VG; Christgen, Matthias M; Isacke, Clare C; Derksen, Patrick W B PWB; Brisken, Cathrin C
Publication Date: 2021-10-27

Variant appearance in text: CDH1: Y380_K440del
PubMed Link: 34771558
Variant Present in the following documents:
  • Main text
  • cancers-13-05396.pdf
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: Tyr380_Lys440del
PubMed Link: 29348693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: CDH1: Y380_K440del
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Exon expression arrays as a tool to identify new cancer genes.

Plos One
Schutte, Mieke M; Elstrodt, Fons F; Bralten, Linda B C LB; Nagel, Jord H A JH; Duijm, Elza E; Hollestelle, Antoinette A; Vuerhard, Maartje J MJ; Wasielewski, Marijke M; Peeters, Justine K JK; van der Spek, Peter P; Sillevis Smitt, Peter A PA; French, Pim J PJ
Publication Date: 2007-08-20

Variant appearance in text: CDH1: 1138_1320del
PubMed Link: 18688287
Variant Present in the following documents:
  • Main text
  • pone.0003007.pdf
View BVdb publication page