CDH1 c.1204G>C ;(p.D402H)

Variant ID: 16-68847282-G-C

NM_004360.3(CDH1):c.1204G>C;(p.D402H)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Publication Date: 2023-01-03

Variant appearance in text: CDH1: 1204G>C
PubMed Link: 36595552
Variant Present in the following documents:
  • pgen.1010563.s004.xlsx, sheet 1
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: CDH1: D402H
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: CDH1: D402H
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 27
  • Table_1.xlsx, sheet 3
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: CDH1: D402H
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7
View BVdb publication page



Targetable alterations in invasive pleomorphic lobular carcinoma of the breast.

Breast Cancer Research : Bcr
Riedlinger, Gregory M GM; Joshi, Sonali S; Hirshfield, Kim M KM; Barnard, Nicola N; Ganesan, Shridar S
Publication Date: 2021-01-13

Variant appearance in text: CDH1: D402H
PubMed Link: 33441174
Variant Present in the following documents:
  • 13058_2020_1385_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: CDH1: D402H
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CDH1: D402H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Gene mutations distinguishing gastric from colorectal and esophageal adenocarcinomas.

Journal Of Gastrointestinal Oncology
Hoang, Tuyen T; Ganesan, Anand K AK; Hiyama, Darryl D; Dayyani, Farshid F
Publication Date: 2020-02

Variant appearance in text: CDH1: 1204G>C; Asp402His
PubMed Link: 32175104
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: CDH1: D402H
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: CDH1: 1204G>C; D402H
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: CDH1: D402H
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: CDH1: D402H
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 5
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 6
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
View BVdb publication page



Tumor molecular profiling of responders and non-responders following pembrolizumab monotherapy in chemotherapy resistant advanced cervical cancer.

Gynecologic Oncology Reports
Ngoi, N Y L NYL; Heong, V V; Lee, X W XW; Huang, Y Q YQ; Thian, Y L YL; Choo, B A BA; Lim, D D; Lim, Y W YW; Lim, S E SE; Ilancheran, A A; Soong, R R; Tan, D S P DSP
Publication Date: 2018-05

Variant appearance in text: CDH1: D402H
PubMed Link: 29892689
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: CDH1: D402H
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: CDH1: D402H
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Biomarker analysis of cetuximab plus oxaliplatin/leucovorin/5-fluorouracil in first-line metastatic gastric and oesophago-gastric junction cancer: results from a phase II trial of the Arbeitsgemeinschaft Internistische Onkologie (AIO).

Bmc Cancer
Luber, Birgit B; Deplazes, Joëlle J; Keller, Gisela G; Walch, Axel A; Rauser, Sandra S; Eichmann, Martin M; Langer, Rupert R; Höfler, Heinz H; Hegewisch-Becker, Susanna S; Folprecht, Gunnar G; Wöll, Ewald E; Decker, Thomas T; Endlicher, Esther E; Lorenzen, Sylvie S; Fend, Falko F; Peschel, Christian C; Lordick, Florian F
Publication Date: 2011-12-07

Variant appearance in text: CDH1: D402H
PubMed Link: 22152101
Variant Present in the following documents:
  • Main text
  • 1471-2407-11-509.pdf
View BVdb publication page