CDH1 c.531+2T>A

Variant ID: 16-68842472-T-A

NM_004360.3(CDH1):c.531+2T>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: CDH1: 531+2T>A
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Journal Of Medical Genetics
Figueiredo, Joana J; Melo, Soraia S; Carneiro, Patrícia P; Moreira, Ana Margarida AM; Fernandes, Maria Sofia MS; Ribeiro, Ana Sofia AS; Guilford, Parry P; Paredes, Joana J; Seruca, Raquel R
Publication Date: 2019-04

Variant appearance in text: CDH1: 531+2T>A
PubMed Link: 30661051
Variant Present in the following documents:
  • Main text
  • jmedgenet-2018-105807.pdf
View BVdb publication page



Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Gastroenterology
Cho, Soo Young SY; Park, Jun Won JW; Liu, Yang Y; Park, Young Soo YS; Kim, Ju Hee JH; Yang, Hanna H; Um, Hyejin H; Ko, Woo Ri WR; Lee, Byung Il BI; Kwon, Sun Young SY; Ryu, Seung Wan SW; Kwon, Chae Hwa CH; Park, Do Youn DY; Lee, Jae-Hyuk JH; Lee, Sang Il SI; Song, Kyu Sang KS; Hur, Hoon H; Han, Sang-Uk SU; Chang, Heekyung H; Kim, Su-Jin SJ; Kim, Byung-Sik BS; Yook, Jeong-Hwan JH; Yoo, Moon-Won MW; Kim, Beom-Su BS; Lee, In-Seob IS; Kook, Myeong-Cherl MC; Thiessen, Nina N; He, An A; Stewart, Chip C; Dunford, Andrew A; Kim, Jaegil J; Shih, Juliann J; Saksena, Gordon G; Cherniack, Andrew D AD; Schumacher, Steven S; Weiner, Amaro-Taylor AT; Rosenberg, Mara M; Getz, Gad G; Yang, Eun Gyeong EG; Ryu, Min-Hee MH; Bass, Adam J AJ; Kim, Hark Kyun HK
Publication Date: 2017-08

Variant appearance in text: CDH1: 531+2T>A
PubMed Link: 28522256
Variant Present in the following documents:
  • NIHMS1058936-supplement-Table_S4.xlsx, sheet 2
View BVdb publication page



Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.

Journal Of Medical Genetics
Frebourg, T T; Oliveira, C C; Hochain, P P; Karam, R R; Manouvrier, S S; Graziadio, C C; Vekemans, M M; Hartmann, A A; Baert-Desurmont, S S; Alexandre, C C; Lejeune Dumoulin, S S; Marroni, C C; Martin, C C; Castedo, S S; Lovett, M M; Winston, J J; Machado, J C JC; Attié, T T; Jabs, E W EW; Cai, J J; Pellerin, Ph P; Triboulet, J P JP; Scotte, M M; Le Pessot, F F; Hedouin, A A; Carneiro, F F; Blayau, M M; Seruca, R R
Publication Date: 2006-02

Variant appearance in text:
PubMed Link: 15831593
Variant Present in the following documents:
  • Main text
View BVdb publication page