PTEN c.375A>C ;(p.K125N)

Variant ID: 10-89692891-A-C

NM_000314.4(PTEN):c.375A>C;(p.K125N)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Targeting the FGF/FGFR axis and its co-alteration allies.

Esmo Open
Uehara, Y Y; Ikeda, S S; Kim, K H KH; Lim, H J HJ; Adashek, J J JJ; Persha, H E HE; Okamura, R R; Lee, S S; Sicklick, J K JK; Kato, S S; Kurzrock, R R
Publication Date: 2022-11-28

Variant appearance in text: PTEN: K125N
PubMed Link: 36455506
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
View BVdb publication page



A comparison of DNA sequencing and gene expression profiling to assist tissue of origin diagnosis in cancer of unknown primary.

The Journal Of Pathology
Posner, Atara A; Prall, Owen Wj OW; Sivakumaran, Tharani T; Etemadamoghadam, Dariush D; Thio, Niko N; Pattison, Andrew A; Balachander, Shiva S; Fisher, Krista K; Webb, Samantha S; Wood, Colin C; DeFazio, Anna A; Wilcken, Nicholas N; Gao, Bo B; Karapetis, Christos S CS; Singh, Madhu M; Collins, Ian M IM; Richardson, Gary G; Steer, Christopher C; Warren, Mark M; Karanth, Narayan N; Wright, Gavin G; Williams, Scott S; George, Joshy J; Hicks, Rodney J RJ; Boussioutas, Alex A; Gill, Anthony J AJ; Solomon, Benjamin J BJ; Xu, Huiling H; Fellowes, Andrew A; Fox, Stephen B SB; Schofield, Penelope P; Bowtell, David D; Mileshkin, Linda L; Tothill, Richard W RW
Publication Date: 2022-10-26

Variant appearance in text: PTEN: Lys125Asn
PubMed Link: 36287571
Variant Present in the following documents:
  • PATH-259-81-s011.xlsx, sheet 2
  • PATH-259-81-s009.xlsx, sheet 2
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: K125N
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Clinical significance of stromal ER and PR expression in periampullary adenocarcinoma.

Biomarker Research
Andersson, Gustav G; Lundgren, Sebastian S; Heby, Margareta M; Nodin, Björn B; Elebro, Jacob J; Jirström, Karin K
Publication Date: 2019

Variant appearance in text: PTEN: 375A>C; Lys125Asn
PubMed Link: 31827798
Variant Present in the following documents:
  • 40364_2019_176_MOESM1_ESM.xlsx, sheet 1
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: N/A
PubMed Link: 31819097
Variant Present in the following documents:
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: PTEN: 375A>C; K125N
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations.

Nature Communications
Brown, David D; Smeets, Dominiek D; Székely, Borbála B; Larsimont, Denis D; Szász, A Marcell AM; Adnet, Pierre-Yves PY; Rothé, Françoise F; Rouas, Ghizlane G; Nagy, Zsófia I ZI; Faragó, Zsófia Z; Tőkés, Anna-Mária AM; Dank, Magdolna M; Szentmártoni, Gyöngyvér G; Udvarhelyi, Nóra N; Zoppoli, Gabriele G; Pusztai, Lajos L; Piccart, Martine M; Kulka, Janina J; Lambrechts, Diether D; Sotiriou, Christos C; Desmedt, Christine C
Publication Date: 2017-04-20

Variant appearance in text: PTEN: K125N
PubMed Link: 28429735
Variant Present in the following documents:
  • ncomms14944-s4.xlsx, sheet 6
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: 375A>C; K125N
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Plos One
Ricketts, Christopher J CJ; Linehan, W Marston WM
Publication Date: 2015

Variant appearance in text: PTEN: K125N
PubMed Link: 26484545
Variant Present in the following documents:
  • pone.0140257.s003.xlsx, sheet 1
View BVdb publication page



A method to control phosphoinositides and to analyze PTEN function in living cells using voltage sensitive phosphatases.

Frontiers In Pharmacology
Mavrantoni, Angeliki A; Thallmair, Veronika V; Leitner, Michael G MG; Schreiber, Daniela N DN; Oliver, Dominik D; Halaszovich, Christian R CR
Publication Date: 2015

Variant appearance in text: PTEN: K125N
PubMed Link: 25873899
Variant Present in the following documents:
  • Main text
  • fphar-06-00068.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PTEN: K125N
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
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: K125N
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page