PTEN c.295G>T ;(p.E99*)

Variant ID: 10-89692811-G-T

NM_000314.4(PTEN):c.295G>T;(p.E99*)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Ultrasensitive tumour-agnostic non-invasive detection of colorectal cancer recurrence using ctDNA methylation.

Clinical And Translational Medicine
Xiao, Yu Y; Wang, Xiaodong X; Weng, Hong H; Ding, Zhao Z; Qian, Kaiyu K; Jin, Wan W; Lu, Sen S; Ju, Lingao L; He, Zhiwen Z; Wang, Gang G; Xie, Xiaoyu X; Liu, Dongmei D; Fan, Zhou Z; Wu, Kai K; Li, Sheng S; Guo, Huanhuan H; Qian, Guofeng G; Jiang, Wei W; Leng, Yunji Y; Zhao, Junpeng J; Cao, Xinyue X; Peng, Minsheng M; Jiang, Congqing C; Li, Li L; Zhang, Yi Y; Wang, Xinghuan X
Publication Date: 2022-09

Variant appearance in text: PTEN: 295G>T; E99*
PubMed Link: 36103400
Variant Present in the following documents:
  • CTM2-12-e1015-s002.xlsx, sheet 1
View BVdb publication page



Clinical Outcomes of Patients with Recurrent Microsatellite-Stable Endometrial Cancer in Early-Phase Immunotherapy Clinical Trials.

Cancers
How, Jeffrey A JA; Jazaeri, Amir A AA; Fu, Siqing S; Rodon Ahnert, Jordi J; Gong, Jing J; Stephen, Bettzy B; Ferreira Dalla Pria, Hanna H; Bhosale, Priya P; Johnson, Amber A; Yuan, Ying Y; Meric-Bernstam, Funda F; Naing, Aung A
Publication Date: 2022-07-29

Variant appearance in text: PTEN: 295G>T
PubMed Link: 35954359
Variant Present in the following documents:
  • cancers-14-03695.pdf
View BVdb publication page



Reliability analysis of exonic-breakpoint fusions identified by DNA sequencing for predicting the efficacy of targeted therapy in non-small cell lung cancer.

Bmc Medicine
Li, Weihua W; Wan, Rui R; Guo, Lei L; Chang, Geyun G; Jiang, Dong D; Meng, Lin L; Ying, Jianming J
Publication Date: 2022-05-10

Variant appearance in text: PTEN: E99*
PubMed Link: 35534835
Variant Present in the following documents:
  • Main text
  • 12916_2022_Article_2362.pdf
View BVdb publication page



Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10

Variant appearance in text: PTEN: 295G>T; Glu99*
PubMed Link: 35012638
Variant Present in the following documents:
  • 13073_2021_990_MOESM2_ESM.xlsx, sheet 1
  • 13073_2021_990_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10

Variant appearance in text: PTEN: 295G>T; Glu99*
PubMed Link: 35012638
Variant Present in the following documents:
  • 13073_2021_990_MOESM2_ESM.xlsx, sheet 2
  • 13073_2021_990_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical Utility of Next-Generation Sequencing-Based Panel Testing under the Universal Health-Care System in Japan: A Retrospective Analysis at a Single University Hospital.

Cancers
Inagaki, Chiaki C; Maeda, Daichi D; Hatake, Kazue K; Sato, Yuki Y; Hashimoto, Kae K; Sakai, Daisuke D; Yachida, Shinichi S; Nonomura, Norio N; Satoh, Taroh T
Publication Date: 2021-03-05

Variant appearance in text: PTEN: 295G>T
PubMed Link: 33807840
Variant Present in the following documents:
  • Main text
  • cancers-13-01121.pdf
View BVdb publication page



Prevalence of APC and PTEN Alterations in Urachal Cancer.

Pathology Oncology Research : Por
Nagy, Nikolett N; Reis, Henning H; Hadaschik, Boris B; Niedworok, Christian C; Módos, Orsolya O; Szendrői, Attila A; Bíró, Krisztina K; Hager, Thomas T; Herold, Thomas T; Ablat, Jason J; Black, Peter C PC; Okon, Krzysztof K; Tolkach, Yuri Y; Csizmarik, Anita A; Oláh, Csilla C; Keresztes, David D; Bremmer, Felix F; Gaisa, Nadine T NT; Kriegsmann, Joerg J; Kovalszky, Ilona I; Kiss, András A; Tímár, József J; Szász, Marcell A MA; Rink, Michael M; Fisch, Margit M; Nyirády, Péter P; Szarvas, Tibor T
Publication Date: 2020-10

Variant appearance in text: PTEN: E99*
PubMed Link: 32754865
Variant Present in the following documents:
  • Main text
  • 12253_2020_Article_872.pdf
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: PTEN: E99X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

International Journal Of Cancer
Reijnen, Casper C; Küsters-Vandevelde, Heidi V N HVN; Ligtenberg, Marjolijn J L MJL; Bulten, Johan J; Oosterwegel, Marloes M; Snijders, Marc P L M MPLM; Sweegers, Sanne S; de Hullu, Joanne A JA; Vos, Maria C MC; van der Wurff, Anneke A M AAM; van Altena, Anne M AM; Eijkelenboom, Astrid A; Pijnenborg, Johanna M A JMA
Publication Date: 2020-07-15

Variant appearance in text: PTEN: 295G>T; Glu99*
PubMed Link: 32022266
Variant Present in the following documents:
  • IJC-147-478-s001.pdf
View BVdb publication page



Contribution of allelic imbalance to colorectal cancer.

Nature Communications
Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA
Publication Date: 2018-09-10

Variant appearance in text: PTEN: E99X
PubMed Link: 30202008
Variant Present in the following documents:
  • 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Computational development of a molecular-based approach to improve risk stratification of endometrial cancer patients.

Oncotarget
Torricelli, Federica F; Nicoli, Davide D; Bellazzi, Riccardo R; Ciarrocchi, Alessia A; Farnetti, Enrico E; Mastrofilippo, Valentina V; Zamponi, Raffaella R; La Sala, Giovanni Battista GB; Casali, Bruno B; Mandato, Vincenzo Dario VD
Publication Date: 2018-05-22

Variant appearance in text: PTEN: 295G>T
PubMed Link: 29876005
Variant Present in the following documents:
  • oncotarget-09-25517-s001.pdf
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: 295G>T; E99*
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s023.xlsx, sheet 1
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page



The In Vitro Stability of Circulating Tumour DNA.

Plos One
Henao Diaz, Emanuela E; Yachnin, Jeffrey J; Grönberg, Henrik H; Lindberg, Johan J
Publication Date: 2016

Variant appearance in text: PTEN: 295G>T; Glu99*
PubMed Link: 27959945
Variant Present in the following documents:
  • pone.0168153.s005.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: 295G>T; E99*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



A clinically applicable molecular-based classification for endometrial cancers.

British Journal Of Cancer
Talhouk, A A; McConechy, M K MK; Leung, S S; Li-Chang, H H HH; Kwon, J S JS; Melnyk, N N; Yang, W W; Senz, J J; Boyd, N N; Karnezis, A N AN; Huntsman, D G DG; Gilks, C B CB; McAlpine, J N JN
Publication Date: 2015-07-14

Variant appearance in text: PTEN: E99*
PubMed Link: 26172027
Variant Present in the following documents:
  • bjc2015190x5.xls, sheet 1
View BVdb publication page