CDH1 c.324A>G ;(p.R108=)

Variant ID: 16-68835733-A-G

NM_004360.3(CDH1):c.324A>G;(p.R108=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.

Genes & Diseases
Cerrato-Izaguirre, Dennis D; Chirino, Yolanda I YI; García-Cuellar, Claudia M CM; Santibáñez-Andrade, Miguel M; Prada, Diddier D; Hernández-Guerrero, Angélica A; Larraga, Octavio Alonso OA; Camacho, Javier J; Sánchez-Pérez, Yesennia Y
Publication Date: 2022-07

Variant appearance in text: CDH1: 324A>G; R108R
PubMed Link: 35685475
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Plos One
Bishop, Madison R MR; Omeler-Fenaud, Sophonie M SM; Huskey, Anna L W ALW; Merner, Nancy D ND
Publication Date: 2020

Variant appearance in text: CDH1: R108R
PubMed Link: 32866190
Variant Present in the following documents:
  • pone.0238295.s002.xlsx, sheet 1
View BVdb publication page



A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One
Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND
Publication Date: 2019

Variant appearance in text: CDH1: 324A>G; R108R
PubMed Link: 31415627
Variant Present in the following documents:
  • Main text
  • pone.0220929.pdf
View BVdb publication page



Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Guindalini, Rodrigo Santa Cruz RSC; Cormedi, Marina Cândido Visontai MCV; Maistro, Simone S; Pasini, Fátima Solange FS; Branas, Priscila Cristina Abduch Adas PCAA; Dos Santos, Liliane L; de Lima Pereira, Gláucia Fernanda GF; de Bock, Geertruida Hendrika GH; Saccaro, Daniela Marques DM; Katayama, Maria Lucia Hirata MLH; Faraj, Sheila Friedrich SF; Safatle-Ribeiro, Adriana A; Ribeiro Junior, Ulysses U; Diz, Maria Del Pilar Estevez MDPE; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Chammas, Roger R; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2019-09

Variant appearance in text: CDH1: 324A>G; R108R; rs116542018
PubMed Link: 30895400
Variant Present in the following documents:
  • Main text
  • 10120_2019_Article_945.pdf
View BVdb publication page



Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Guindalini, Rodrigo Santa Cruz RSC; Cormedi, Marina Cândido Visontai MCV; Maistro, Simone S; Pasini, Fátima Solange FS; Branas, Priscila Cristina Abduch Adas PCAA; Dos Santos, Liliane L; de Lima Pereira, Gláucia Fernanda GF; de Bock, Geertruida Hendrika GH; Saccaro, Daniela Marques DM; Katayama, Maria Lucia Hirata MLH; Faraj, Sheila Friedrich SF; Safatle-Ribeiro, Adriana A; Ribeiro Junior, Ulysses U; Diz, Maria Del Pilar Estevez MDPE; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Chammas, Roger R; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2019-09

Variant appearance in text: CDH1: 324A>G; R108R; rs116542018
PubMed Link: 30895400
Variant Present in the following documents:
  • Main text
  • 10120_2019_Article_945.pdf
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: 324A>G; Arg108=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: R108R
PubMed Link: 16801346
Variant Present in the following documents:
  • Main text
View BVdb publication page