CDH1 c.712A>G ;(p.N238D)

Variant ID: 16-68844124-A-G

NM_004360.3(CDH1):c.712A>G;(p.N238D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: CDH1: 712A>G; Asn238Asp
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Targeted next generation sequencing of well-differentiated/dedifferentiated liposarcoma reveals novel gene amplifications and mutations.

Oncotarget
Somaiah, Neeta N; Beird, Hannah C HC; Barbo, Andrea A; Song, Juhee J; Mills Shaw, Kenna R KR; Wang, Wei-Lien WL; Eterovic, Karina K; Chen, Ken K; Lazar, Alexander A; Conley, Anthony P AP; Ravi, Vinod V; Hwu, Patrick P; Futreal, Andrew A; Simon, George G; Meric-Bernstam, Funda F; Hong, David D
Publication Date: 2018-04-13

Variant appearance in text: CDH1: N238D
PubMed Link: 29731991
Variant Present in the following documents:
  • Main text
  • oncotarget-09-19891.pdf
View BVdb publication page



Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy.

Nature Genetics
Barretina, Jordi J; Taylor, Barry S BS; Banerji, Shantanu S; Ramos, Alexis H AH; Lagos-Quintana, Mariana M; Decarolis, Penelope L PL; Shah, Kinjal K; Socci, Nicholas D ND; Weir, Barbara A BA; Ho, Alan A; Chiang, Derek Y DY; Reva, Boris B; Mermel, Craig H CH; Getz, Gad G; Antipin, Yevgenyi Y; Beroukhim, Rameen R; Major, John E JE; Hatton, Charles C; Nicoletti, Richard R; Hanna, Megan M; Sharpe, Ted T; Fennell, Tim J TJ; Cibulskis, Kristian K; Onofrio, Robert C RC; Saito, Tsuyoshi T; Shukla, Neerav N; Lau, Christopher C; Nelander, Sven S; Silver, Serena J SJ; Sougnez, Carrie C; Viale, Agnes A; Winckler, Wendy W; Maki, Robert G RG; Garraway, Levi A LA; Lash, Alex A; Greulich, Heidi H; Root, David E DE; Sellers, William R WR; Schwartz, Gary K GK; Antonescu, Cristina R CR; Lander, Eric S ES; Varmus, Harold E HE; Ladanyi, Marc M; Sander, Chris C; Meyerson, Matthew M; Singer, Samuel S
Publication Date: 2010-08

Variant appearance in text: CDH1: N238D
PubMed Link: 20601955
Variant Present in the following documents:
  • Main text
  • NIHMS212743-supplement-4.xlsx, sheet 1
  • NIHMS212743-supplement-1.pdf
  • nihms212743.pdf
View BVdb publication page