APC c.531+2093A>T

Variant ID: 5-112113527-A-T

NM_000038.5(APC):c.531+2093A>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs467033
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Cancers
Fernandez-Rozadilla, Ceres C; Alvarez-Barona, Miriam M; Schamschula, Esther E; Bodo, Sahra S; Lopez-Novo, Anael A; Dacal, Andres A; Calviño-Costas, Consuelo C; Lancho, Angel A; Amigo, Jorge J; Bello, Xabier X; Cameselle-Teijeiro, Jose Manuel JM; Carracedo, Angel A; Colas, Chrystelle C; Muleris, Martine M; Wimmer, Katharina K; Ruiz-Ponte, Clara C
Publication Date: 2019-07-30

Variant appearance in text: APC: 531+2093A>T; rs467033
PubMed Link: 31366136
Variant Present in the following documents:
  • cancers-11-01081-s001.pdf
View BVdb publication page



Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients.

Plos One
Shao, Jiaofang J; Lou, Xiaoyan X; Wang, Jun J; Zhang, Jing J; Chen, Chen C; Hua, Dasong D; Mo, Fan F; Han, Xu X; Zheng, Shu S; Lin, Biaoyang B
Publication Date: 2013

Variant appearance in text: rs467033
PubMed Link: 23940558
Variant Present in the following documents:
  • pone.0070307.s002.xlsx, sheet 1
View BVdb publication page



Increased variance in germline allele-specific expression of APC associates with colorectal cancer.

Gastroenterology
Curia, Maria Cristina MC; De Iure, Sabrina S; De Lellis, Laura L; Veschi, Serena S; Mammarella, Sandra S; White, Marquitta J MJ; Bartlett, Jacquelaine J; Di Iorio, Angelo A; Amatetti, Cristina C; Lombardo, Marco M; Di Gregorio, Patrizia P; Battista, Pasquale P; Mariani-Costantini, Renato R; Williams, Scott M SM; Cama, Alessandro A
Publication Date: 2012-01

Variant appearance in text: rs467033
PubMed Link: 21995949
Variant Present in the following documents:
  • Main text
View BVdb publication page