PTEN c.688G>T ;(p.G230*)

Variant ID: 10-89717663-G-T

NM_000314.4(PTEN):c.688G>T;(p.G230*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Genomic landscape of gliosarcoma: distinguishing features and targetable alterations.

Scientific Reports
Zaki, Mark M MM; Mashouf, Leila A LA; Woodward, Eleanor E; Langat, Pinky P; Gupta, Saksham S; Dunn, Ian F IF; Wen, Patrick Y PY; Nahed, Brian V BV; Bi, Wenya Linda WL
Publication Date: 2021-09-09

Variant appearance in text: PTEN: G230*
PubMed Link: 34504233
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_97454.pdf
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: PTEN: G230*
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Circulating tumor DNA analysis depicts subclonal architecture and genomic evolution of small cell lung cancer.

Nature Communications
Nong, Jingying J; Gong, Yuhua Y; Guan, Yanfang Y; Yi, Xin X; Yi, Yuting Y; Chang, Lianpeng L; Yang, Ling L; Lv, Jialin J; Guo, Zhirong Z; Jia, Hongyan H; Chu, Yuxing Y; Liu, Tao T; Chen, Ming M; Byers, Lauren L; Roarty, Emily E; Lam, Vincent K VK; Papadimitrakopoulou, Vassiliki A VA; Wistuba, Ignacio I; Heymach, John V JV; Glisson, Bonnie B; Liao, Zhongxing Z; Lee, J Jack JJ; Futreal, P Andrew PA; Zhang, Shucai S; Xia, Xuefeng X; Zhang, Jianjun J; Wang, Jinghui J
Publication Date: 2018-08-06

Variant appearance in text: PTEN: 688G>T; G230*
PubMed Link: 30082701
Variant Present in the following documents:
  • 41467_2018_5327_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_5327_MOESM7_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: PTEN: 688G>T; G230*
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: PTEN: 688G>T; G230*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

Pigment Cell & Melanoma Research
Masaki, Taro T; Wang, Yun Y; DiGiovanna, John J JJ; Khan, Sikandar G SG; Raffeld, Mark M; Beltaifa, Senda S; Hornyak, Thomas J TJ; Darling, Thomas N TN; Lee, Chyi-Chia R CC; Kraemer, Kenneth H KH
Publication Date: 2014-05

Variant appearance in text: PTEN: G230X
PubMed Link: 24483290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Yun Y; Digiovanna, John J JJ; Stern, Jere B JB; Hornyak, Thomas J TJ; Raffeld, Mark M; Khan, Sikandar G SG; Oh, Kyu-Seon KS; Hollander, M Christine MC; Dennis, Philip A PA; Kraemer, Kenneth H KH
Publication Date: 2009-04-14

Variant appearance in text: PTEN: G230X
PubMed Link: 19329485
Variant Present in the following documents:
  • Main text
View BVdb publication page