PTEN c.383_391del ;(p.K128_R130del)

Variant ID: 10-89692895-GGAAAGGGAC-G

NM_000314.4(PTEN):c.383_391del;(p.K128_R130del)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: PTEN: 383_391del; K128_R130del
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



A phase I dose-finding, pharmacokinetics and genotyping study of olaparib and lurbinectedin in patients with advanced solid tumors.

Scientific Reports
Poveda, Andres A; Oaknin, Ana A; Romero, Ignacio I; Guerrero-Zotano, Angel A; Fariñas-Madrid, Lorena L; Rodriguez-Freixinos, Victor V; Mallol, Pedro P; Lopez-Reig, Raquel R; Lopez-Guerrero, Jose Antonio JA
Publication Date: 2021-02-24

Variant appearance in text: PTEN: K128_R130del
PubMed Link: 33627685
Variant Present in the following documents:
  • 41598_2021_82671_MOESM1_ESM.pdf
View BVdb publication page



Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: PTEN: 380_388delGAAAGGGAC; K128_R130del
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



Loss of Both CDKN2A and CDKN2B Allows for Centrosome Overduplication in Melanoma.

The Journal Of Investigative Dermatology
Patel, Shyamal S; Wilkinson, Christopher J CJ; Sviderskaya, Elena V EV
Publication Date: 2020-09

Variant appearance in text: PTEN: Lys128_Arg130del
PubMed Link: 32067956
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.

Nature Communications
Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J
Publication Date: 2019-06-17

Variant appearance in text: PTEN: K128_R130del
PubMed Link: 31209238
Variant Present in the following documents:
  • 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Combination treatment with rucaparib (Rubraca) and MDM2 inhibitors, Nutlin-3 and RG7388, has synergistic and dose reduction potential in ovarian cancer.

Oncotarget
Zanjirband, Maryam M; Curtin, Nicola N; Edmondson, Richard J RJ; Lunec, John J
Publication Date: 2017-09-19

Variant appearance in text: PTEN: 380_388delGAAAGGGAC
PubMed Link: 29050241
Variant Present in the following documents:
  • Main text
  • oncotarget-08-69779.pdf
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: 380_388delGAAAGGGAC; K128_R130del
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: PTEN: K128_R130del
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Publication Date: 2015-09-22

Variant appearance in text: PTEN: K128_R130del
PubMed Link: 26296973
Variant Present in the following documents:
  • oncotarget-06-25619-s004.xlsx, sheet 1
View BVdb publication page



Ovarian cancer cell line panel (OCCP): clinical importance of in vitro morphological subtypes.

Plos One
Beaufort, Corine M CM; Helmijr, Jean C A JC; Piskorz, Anna M AM; Hoogstraat, Marlous M; Ruigrok-Ritstier, Kirsten K; Besselink, Nicolle N; Murtaza, Muhammed M; van IJcken, Wilfred F J WF; Heine, Anouk A J AA; Smid, Marcel M; Koudijs, Marco J MJ; Brenton, James D JD; Berns, Els M J J EM; Helleman, Jozien J
Publication Date: 2014

Variant appearance in text: PTEN: 383_391del
PubMed Link: 25230021
Variant Present in the following documents:
  • pone.0103988.s007.xlsx, sheet 1
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: PTEN: K128_R130del
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page