PTEN c.371G>T ;(p.C124F)

Variant ID: 10-89692887-G-T

NM_000314.4(PTEN):c.371G>T;(p.C124F)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: PTEN: 371G>T; C124F
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: PTEN: C124F
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



AKT phosphorylation as a predictive biomarker for PI3K/mTOR dual inhibition-induced proteolytic cleavage of mTOR companion proteins in small cell lung cancer.

Cell & Bioscience
Hung, Ming-Chun MC; Wang, Wan-Ping WP; Chi, Ya-Hui YH
Publication Date: 2022-08-02

Variant appearance in text: PTEN: C124F
PubMed Link: 35918763
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: PTEN: C124F
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 31
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: C124F
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: 371G>T; C124F
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: 371G>T; C124F
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: PTEN: C124F
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



A catalog of HLA type, HLA expression, and neo-epitope candidates in human cancer cell lines.

Oncoimmunology
Boegel, Sebastian S; Löwer, Martin M; Bukur, Thomas T; Sahin, Ugur U; Castle, John C JC
Publication Date: 2014

Variant appearance in text: PTEN: C124F
PubMed Link: 25960936
Variant Present in the following documents:
  • Main text
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: c124f
PubMed Link: 25671297
Variant Present in the following documents:
  • oncotarget-06-5041-s001.pdf
View BVdb publication page



Discovery of novel AKT inhibitors with enhanced anti-tumor effects in combination with the MEK inhibitor.

Plos One
Dumble, Melissa M; Crouthamel, Ming-Chih MC; Zhang, Shu-Yun SY; Schaber, Michael M; Levy, Dana D; Robell, Kimberly K; Liu, Qi Q; Figueroa, David J DJ; Minthorn, Elisabeth A EA; Seefeld, Mark A MA; Rouse, Meagan B MB; Rabindran, Sridhar K SK; Heerding, Dirk A DA; Kumar, Rakesh R
Publication Date: 2014

Variant appearance in text: PTEN: C124F
PubMed Link: 24978597
Variant Present in the following documents:
  • pone.0100880.s006.xlsx, sheet 1
View BVdb publication page



Annotating cancer variants and anti-cancer therapeutics in reactome.

Cancers
Milacic, Marija M; Haw, Robin R; Rothfels, Karen K; Wu, Guanming G; Croft, David D; Hermjakob, Henning H; D'Eustachio, Peter P; Stein, Lincoln L
Publication Date: 2012-11-08

Variant appearance in text: PTEN: C124F
PubMed Link: 24213504
Variant Present in the following documents:
  • Main text
  • cancers-04-01180.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PTEN: C124F
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page