PTEN c.652T>C ;(p.C218R)

Variant ID: 10-89717627-T-C

NM_000314.4(PTEN):c.652T>C;(p.C218R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: PTEN: 652T>C; Cys218Arg
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s006.xlsx, sheet 1
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: PTEN: C218R
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
View BVdb publication page



Advances in dynamic modeling of colorectal cancer signaling-network regions, a path toward targeted therapies.

Oncotarget
Tortolina, Lorenzo L; Duffy, David J DJ; Maffei, Massimo M; Castagnino, Nicoletta N; Carmody, Aimée M AM; Kolch, Walter W; Kholodenko, Boris N BN; De Ambrosi, Cristina C; Barla, Annalisa A; Biganzoli, Elia M EM; Nencioni, Alessio A; Patrone, Franco F; Ballestrero, Alberto A; Zoppoli, Gabriele G; Verri, Alessandro A; Parodi, Silvio S
Publication Date: 2015-03-10

Variant appearance in text: PTEN: c218r
PubMed Link: 25671297
Variant Present in the following documents:
  • oncotarget-06-5041-s001.pdf
View BVdb publication page



Nuclear receptor coregulator SNP discovery and impact on breast cancer risk.

Bmc Cancer
Hartmaier, Ryan J RJ; Tchatchou, Sandrine S; Richter, Alexandra S AS; Wang, Jay J; McGuire, Sean E SE; Skaar, Todd C TC; Rae, Jimmy M JM; Hemminki, Kari K; Sutter, Christian C; Ditsch, Nina N; Bugert, Peter P; Weber, Bernhard H F BH; Niederacher, Dieter D; Arnold, Norbert N; Varon-Mateeva, Raymonda R; Wappenschmidt, Barbara B; Schmutzler, Rita K RK; Meindl, Alfons A; Bartram, Claus R CR; Burwinkel, Barbara B; Oesterreich, Steffi S
Publication Date: 2009-12-14

Variant appearance in text: PTEN: C218R
PubMed Link: 20003447
Variant Present in the following documents:
  • 1471-2407-9-438.pdf
View BVdb publication page