APC c.3740C>T ;(p.A1247V)

Variant ID: 5-112175031-C-T

NM_000038.5(APC):c.3740C>T;(p.A1247V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


APC Mutations Are Not Confined to Hotspot Regions in Early-Onset Colorectal Cancer.

Cancers
Aitchison, Alan A; Hakkaart, Christopher C; Day, Robert C RC; Morrin, Helen R HR; Frizelle, Frank A FA; Keenan, Jacqueline I JI
Publication Date: 2020-12-18

Variant appearance in text: APC: 3740C>T; A1247V
PubMed Link: 33352971
Variant Present in the following documents:
  • Main text
  • cancers-12-03829.pdf
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: APC: 3740C>T
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: APC: 3740C>T; A1247V
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget
Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-11-21

Variant appearance in text: APC: A1247V
PubMed Link: 29245953
Variant Present in the following documents:
  • oncotarget-08-99966-s003.xlsx, sheet 3
View BVdb publication page



Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion.

Nature Genetics
Bass, Adam J AJ; Lawrence, Michael S MS; Brace, Lear E LE; Ramos, Alex H AH; Drier, Yotam Y; Cibulskis, Kristian K; Sougnez, Carrie C; Voet, Douglas D; Saksena, Gordon G; Sivachenko, Andrey A; Jing, Rui R; Parkin, Melissa M; Pugh, Trevor T; Verhaak, Roel G RG; Stransky, Nicolas N; Boutin, Adam T AT; Barretina, Jordi J; Solit, David B DB; Vakiani, Evi E; Shao, Wenlin W; Mishina, Yuji Y; Warmuth, Markus M; Jimenez, Jose J; Chiang, Derek Y DY; Signoretti, Sabina S; Kaelin, William G WG; Spardy, Nicole N; Hahn, William C WC; Hoshida, Yujin Y; Ogino, Shuji S; DePinho, Ronald A RA; Chin, Lynda L; Garraway, Levi A LA; Fuchs, Charles S CS; Baselga, Jose J; Tabernero, Josep J; Gabriel, Stacey S; Lander, Eric S ES; Getz, Gad G; Meyerson, Matthew M
Publication Date: 2011-09-04

Variant appearance in text: APC: Ala1247Val
PubMed Link: 21892161
Variant Present in the following documents:
  • Main text
View BVdb publication page