PTEN c.17_18del ;(p.K6Rfs*4)

Variant ID: 10-89624241-CAA-C

NM_000314.4(PTEN):c.17_18del;(p.K6Rfs*4)

This variant was identified in 37 publications

View GRCh38 version.




Publications:


PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review.

Diagnostic Pathology
Rahmatinejad, Zahra Z; Goshayeshi, Ladan L; Bergquist, Robert R; Goshayeshi, Lena L; Golabpour, Amin A; Hoseini, Benyamin B
Publication Date: 2023-04-04

Variant appearance in text: PTEN: 17_18delAA
PubMed Link: 37016356
Variant Present in the following documents:
  • Main text
  • 13000_2023_Article_1331.pdf
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: PTEN: K6Rfs*4
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
View BVdb publication page



Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science
Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K
Publication Date: 2023-01-05

Variant appearance in text: PTEN: 17_18del; K6Rfs*4
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page



Double-layer omics analysis of castration- and X-ray-resistant prostate cancer cells.

Journal Of Radiation Research
Iwanaga, Mototaro M; Kawamura, Hidemasa H; Kubo, Nobuteru N; Mizukami, Tatsuji T; Oike, Takahiro T; Sato, Hiro H; Miyazawa, Yoshiyuki Y; Sekine, Yoshitaka Y; Kawabata-Iwakawa, Reika R; Nishiyama, Masahiko M; Ohno, Tatsuya T; Nakano, Takashi T
Publication Date: 2022-07-19

Variant appearance in text: PTEN: 16_17delAA; rs121913290
PubMed Link: 35589101
Variant Present in the following documents:
  • s1_table_rrac022.xlsx, sheet 1
View BVdb publication page



Identifying Phased Mutations and Complex Rearrangements in Human Prostate Cancer Cell Lines through Linked-Read Whole-Genome Sequencing.

Molecular Cancer Research : Mcr
Pham, Minh-Tam MT; Gupta, Anuj A; Gupta, Harshath H; Vaghasia, Ajay A; Skaist, Alyza A; Garrison, McKinzie A MA; Coulter, Jonathan B JB; Haffner, Michael C MC; Zheng, S Lilly SL; Xu, Jianfeng J; DeStefano Shields, Christina C; Isaacs, William B WB; Wheelan, Sarah J SJ; Nelson, William G WG; Yegnasubramanian, Srinivasan S
Publication Date: 2022-07-06

Variant appearance in text: PTEN: 17_18del; K6Rfs*4
PubMed Link: 35452513
Variant Present in the following documents:
  • mcr-21-0683_supplementary_tables_1-13_suppst1-13.xlsx, sheet 7
View BVdb publication page



Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet Journal Of Rare Diseases
Pena-Couso, Laura L; Ercibengoa, María M; Mercadillo, Fátima F; Gómez-Sánchez, David D; Inglada-Pérez, Lucía L; Santos, María M; Lanillos, Javier J; Gutiérrez-Abad, David D; Hernández, Almudena A; Carbonell, Pablo P; Letón, Rocío R; Robledo, Mercedes M; Rodríguez-Antona, Cristina C; Perea, José J; Urioste, Miguel M; ,
Publication Date: 2022-02-28

Variant appearance in text: PTEN: 17_18del; Lys6Argfs*4
PubMed Link: 35227301
Variant Present in the following documents:
  • 13023_2021_2079_MOESM1_ESM.pdf
View BVdb publication page



KIT/PDGFRA/KDR amplification defines a novel molecular subtype of adenoid cystic carcinoma patients who may benefit from treatment with tyrosine kinase inhibitors.

Translational Cancer Research
Hou, Helei H; Jia, Dongmei D; Yan, Weihua W; Zhang, Xiaoping X; Wang, Chunbao C; Li, Yujun Y; Chen, Hua H; Huang, Weiqing W; Li, Zhuokun Z; Zhang, Xiaochun X
Publication Date: 2020-08

Variant appearance in text: PTEN: K6Rfs*4
PubMed Link: 35117834
Variant Present in the following documents:
  • Main text
  • tcr-09-08-4703.pdf
View BVdb publication page



Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Waks, Adrienne G AG; Kim, Dewey D; Jain, Esha E; Snow, Craig C; Kirkner, Gregory J GJ; Rosenberg, Shoshana M SM; Oh, Coyin C; Poorvu, Philip D PD; Ruddy, Kathryn J KJ; Tamimi, Rulla M RM; Peppercorn, Jeffrey J; Schapira, Lidia L; Borges, Virginia F VF; Come, Steven E SE; Brachtel, Elena F EF; Warner, Ellen E; Collins, Laura C LC; Partridge, Ann H AH; Wagle, Nikhil N
Publication Date: 2022-06-01

Variant appearance in text: PTEN: 16_17delAA; K6fs; rs121913290
PubMed Link: 35101884
Variant Present in the following documents:
  • ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 1
  • ccr-21-2572_supplementary_table_s1_supps1.xlsx, sheet 2
View BVdb publication page



"Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)".

Endocrine
Tuli, Gerdi G; Munarin, Jessica J; Mussa, Alessandro A; Carli, Diana D; Gastaldi, Roberto R; Borgia, Paola P; Vigone, Maria Cristina MC; Abbate, Marco M; Ferrero, Giovanni Battista GB; De Sanctis, Luisa L
Publication Date: 2021-12

Variant appearance in text: PTEN: 17_18delAA; Lys6Argfs
PubMed Link: 34184188
Variant Present in the following documents:
  • Main text
  • 12020_2021_Article_2805.pdf
View BVdb publication page



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: 16_17delAA
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.

Communications Biology
Inagaki-Kawata, Yukiko Y; Yoshida, Kenichi K; Kawaguchi-Sakita, Nobuko N; Kawashima, Masahiro M; Nishimura, Tomomi T; Senda, Noriko N; Shiozawa, Yusuke Y; Takeuchi, Yasuhide Y; Inoue, Yoshikage Y; Sato-Otsubo, Aiko A; Fujii, Yoichi Y; Nannya, Yasuhito Y; Suzuki, Eiji E; Takada, Masahiro M; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Chiba, Kenichi K; Kataoka, Yuki Y; Torii, Masae M; Yoshibayashi, Hiroshi H; Yamagami, Kazuhiko K; Okamura, Ryuji R; Moriguchi, Yoshio Y; Kato, Hironori H; Tsuyuki, Shigeru S; Yamauchi, Akira A; Suwa, Hirofumi H; Inamoto, Takashi T; Miyano, Satoru S; Ogawa, Seishi S; Toi, Masakazu M
Publication Date: 2020-10-16

Variant appearance in text: PTEN: 16_17del; K6fs
PubMed Link: 33067557
Variant Present in the following documents:
  • 42003_2020_1301_MOESM1_ESM.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PTEN: K6Rfs*4
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: PTEN: 17_18delAA; K6Rfs*4
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: PTEN: 16_17delAA; Lys6fs
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 5
  • Supplementary_Data2.xlsx, sheet 8
  • Supplementary_Data2.xlsx, sheet 7
  • Supplementary_Data2.xlsx, sheet 6
View BVdb publication page



Analysis of gene expression signatures identifies prognostic and functionally distinct ovarian clear cell carcinoma subtypes.

Ebiomedicine
Tan, Tuan Zea TZ; Ye, Jieru J; Yee, Chung Vin CV; Lim, Diana D; Ngoi, Natalie Yan Li NYL; Tan, David Shao Peng DSP; Huang, Ruby Yun-Ju RY
Publication Date: 2019-12

Variant appearance in text: PTEN: 17_18delAA; K6fs; rs121913290
PubMed Link: 31761620
Variant Present in the following documents:
  • mmc1.xlsx, sheet 8
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: K6fs*4
PubMed Link: 31209238
Variant Present in the following documents:
  • 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.

Academic Pathology
Nasrallah, MacLean P MP; Binder, Zev A ZA; Oldridge, Derek A DA; Zhao, Jianhua J; Lieberman, David B DB; Roth, Jacquelyn J JJ; Watt, Christopher D CD; Sukhadia, Shrey S; Klinman, Eva E; Daber, Robert D RD; Desai, Arati A; Brem, Steven S; O'Rourke, Donald M DM; Morrissette, Jennifer J D JJD
Publication Date: 2019

Variant appearance in text: PTEN: K6RFS*4
PubMed Link: 31206012
Variant Present in the following documents:
  • Supplementary_Table_1.xlsx, sheet 1
View BVdb publication page



Heterogeneous pathway activation and drug response modelled in colorectal-tumor-derived 3D cultures.

Plos Genetics
Schumacher, Dirk D; Andrieux, Geoffroy G; Boehnke, Karsten K; Keil, Marlen M; Silvestri, Alessandra A; Silvestrov, Maxine M; Keilholz, Ulrich U; Haybaeck, Johannes J; Erdmann, Gerrit G; Sachse, Christoph C; Templin, Markus M; Hoffmann, Jens J; Boerries, Melanie M; Schäfer, Reinhold R; Regenbrecht, Christian R A CRA
Publication Date: 2019-03

Variant appearance in text: PTEN: 17_18delAA; K6Rfs*4
PubMed Link: 30925167
Variant Present in the following documents:
  • pgen.1008076.s007.xlsx, sheet 1
View BVdb publication page



Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology
Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH
Publication Date: 2018-07-31

Variant appearance in text: PTEN: 16_17delAA
PubMed Link: 30064409
Variant Present in the following documents:
  • 12894_2018_380_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Label-free isolation of prostate circulating tumor cells using Vortex microfluidic technology.

Npj Precision Oncology
Renier, Corinne C; Pao, Edward E; Che, James J; Liu, Haiyan E HE; Lemaire, Clementine A CA; Matsumoto, Melissa M; Triboulet, Melanie M; Srivinas, Sandy S; Jeffrey, Stefanie S SS; Rettig, Matthew M; Kulkarni, Rajan P RP; Di Carlo, Dino D; Sollier-Christen, Elodie E
Publication Date: 2017

Variant appearance in text: PTEN: 17_18delAA; K6fs*4
PubMed Link: 29872702
Variant Present in the following documents:
  • Main text
  • 41698_2017_Article_15.pdf
View BVdb publication page



Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology
Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M
Publication Date: 2018-06-01

Variant appearance in text: PTEN: 16_17delAA
PubMed Link: 29659903
Variant Present in the following documents:
  • hyy052supplementaltable1ionver1.xls, sheet 1
View BVdb publication page



Novel Germline PTEN Mutation Associated with Cowden Syndrome and Osteosarcoma.

Cancer Genomics & Proteomics
Lopez, Christian C; Abuel-Haija, Mohammad M; Pena, Luis L; Coppola, Domenico D
Publication Date: 2018

Variant appearance in text: PTEN: 17_18delAA
PubMed Link: 29496690
Variant Present in the following documents:
  • Main text
View BVdb publication page



Olaparib is effective in combination with, and as maintenance therapy after, first-line endocrine therapy in prostate cancer cells.

Molecular Oncology
Feiersinger, Gertrud E GE; Trattnig, Kristina K; Leitner, Peter D PD; Guggenberger, Fabian F; Oberhuber, Alexander A; Peer, Sarah S; Hermann, Martin M; Skvortsova, Ira I; Vrbkova, Jana J; Bouchal, Jan J; Culig, Zoran Z; Santer, Frédéric R FR
Publication Date: 2018-04

Variant appearance in text: PTEN: 16_17delAA; K6fs*4
PubMed Link: 29465803
Variant Present in the following documents:
  • MOL2-12-561-s006.xlsx, sheet 3
View BVdb publication page



Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Translational Oncology
Lee, Ji Yun JY; Kim, Kyung K; Sung, Hyun Hwan HH; Jeon, Hwang Gyun HG; Jeong, Byong Chang BC; Seo, Seong Il SI; Jeon, Seong Soo SS; Lee, Hyun Moo HM; Choi, Han-Yong HY; Kwon, Ghee-Young GY; Kim, Kyoung-Mee KM; Lee, Jeeyun J; Lim, Ho Yeong HY; Park, Se Hoon SH
Publication Date: 2018-02

Variant appearance in text: PTEN: 16_17delAA
PubMed Link: 29161613
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PTEN: 17_18delAA; Lys6Argfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Personalized In Vitro and In Vivo Cancer Models to Guide Precision Medicine.

Cancer Discovery
Pauli, Chantal C; Hopkins, Benjamin D BD; Prandi, Davide D; Shaw, Reid R; Fedrizzi, Tarcisio T; Sboner, Andrea A; Sailer, Verena V; Augello, Michael M; Puca, Loredana L; Rosati, Rachele R; McNary, Terra J TJ; Churakova, Yelena Y; Cheung, Cynthia C; Triscott, Joanna J; Pisapia, David D; Rao, Rema R; Mosquera, Juan Miguel JM; Robinson, Brian B; Faltas, Bishoy M BM; Emerling, Brooke E BE; Gadi, Vijayakrishna K VK; Bernard, Brady B; Elemento, Olivier O; Beltran, Himisha H; Demichelis, Francesca F; Kemp, Christopher J CJ; Grandori, Carla C; Cantley, Lewis C LC; Rubin, Mark A MA
Publication Date: 2017-05

Variant appearance in text: PTEN: K6fs*4
PubMed Link: 28331002
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: PTEN: 16_17del
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

The Journal Of Pathology. Clinical Research
Presneau, Nadège N; Baumhoer, Daniel D; Behjati, Sam S; Pillay, Nischalan N; Tarpey, Patrick P; Campbell, Peter J PJ; Jundt, Gernot G; Hamoudi, Rifat R; Wedge, David C DC; Loo, Peter Van PV; Hassan, A Bassim AB; Khatri, Bhavisha B; Ye, Hongtao H; Tirabosco, Roberto R; Amary, M Fernanda MF; Flanagan, Adrienne M AM
Publication Date: 2015-04

Variant appearance in text: PTEN: 16_17delAA
PubMed Link: 27499898
Variant Present in the following documents:
  • CJP2-1-113-s004.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: 16_17delAA; K6fs*4
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



Mutations in PI3K/AKT pathway genes and amplifications of PIK3CA are associated with patterns of recurrence in gastric cancers.

Oncotarget
Fang, Wen-Liang WL; Huang, Kuo-Hung KH; Lan, Yuan-Tzu YT; Lin, Chien-Hsing CH; Chang, Shih-Ching SC; Chen, Ming-Huang MH; Chao, Yee Y; Lin, Wen-Chang WC; Lo, Su-Shun SS; Li, Anna Fen-Yau AF; Wu, Chew-Wun CW; Chiou, Shih-Hwa SH; Shyr, Yi-Ming YM
Publication Date: 2016-02-02

Variant appearance in text: PTEN: 16_17delAA; K6fs*4
PubMed Link: 26701847
Variant Present in the following documents:
  • oncotarget-07-6201-s001.pdf
View BVdb publication page



Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-12-22

Variant appearance in text: PTEN: 16_17delAA
PubMed Link: 26527317
Variant Present in the following documents:
  • oncotarget-06-43731-s002.xlsx, sheet 1
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: 16_17delAA
PubMed Link: 26296973
Variant Present in the following documents:
  • oncotarget-06-25619-s003.xls, sheet 1
View BVdb publication page



Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-09-15

Variant appearance in text: PTEN: 16_17delAA
PubMed Link: 26009992
Variant Present in the following documents:
  • oncotarget-06-24499-s002.xlsx, sheet 1
View BVdb publication page



Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.

Bmc Cancer
Tone, Alicia A AA; McConechy, Melissa K MK; Yang, Winnie W; Ding, Jiarui J; Yip, Stephen S; Kong, Esther E; Wong, Kwong-Kwok KK; Gershenson, David M DM; Mackay, Helen H; Shah, Sohrab S; Gilks, Blake B; Tinker, Anna V AV; Clarke, Blaise B; McAlpine, Jessica N JN; Huntsman, David D
Publication Date: 2014-12-18

Variant appearance in text: PTEN: K6fs*4
PubMed Link: 25523272
Variant Present in the following documents:
  • 12885_2014_5198_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Plos One
Kim, Seokhwi S; Lee, Jeeyun J; Hong, Min Eui ME; Do, In-Gu IG; Kang, So Young SY; Ha, Sang Yun SY; Kim, Seung Tae ST; Park, Se Hoon SH; Kang, Won Ki WK; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Duk-Hwan DH; Kim, Kyoung-Mee KM
Publication Date: 2014

Variant appearance in text: PTEN: 16_17delAA
PubMed Link: 25372287
Variant Present in the following documents:
  • pone.0111693.s003.xls, sheet 1
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Designing a high-throughput somatic mutation profiling panel specifically for gynaecological cancers.

Plos One
Spaans, Vivian M VM; Trietsch, Marjolijn D MD; Crobach, Stijn S; Stelloo, Ellen E; Kremer, Dennis D; Osse, Elisabeth M EM; Haar, Natalja T ter NT; van Eijk, Ronald R; Muller, Susanne S; van Wezel, Tom T; Trimbos, J Baptist JB; Bosse, Tjalling T; Smit, Vincent T H B M VT; Fleuren, Gert Jan GJ
Publication Date: 2014

Variant appearance in text: PTEN: K6fs*4
PubMed Link: 24671188
Variant Present in the following documents:
  • Main text
  • pone.0093451.pdf
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The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity.

Nature
Barretina, Jordi J; Caponigro, Giordano G; Stransky, Nicolas N; Venkatesan, Kavitha K; Margolin, Adam A AA; Kim, Sungjoon S; Wilson, Christopher J CJ; Lehár, Joseph J; Kryukov, Gregory V GV; Sonkin, Dmitriy D; Reddy, Anupama A; Liu, Manway M; Murray, Lauren L; Berger, Michael F MF; Monahan, John E JE; Morais, Paula P; Meltzer, Jodi J; Korejwa, Adam A; Jané-Valbuena, Judit J; Mapa, Felipa A FA; Thibault, Joseph J; Bric-Furlong, Eva E; Raman, Pichai P; Shipway, Aaron A; Engels, Ingo H IH; Cheng, Jill J; Yu, Guoying K GK; Yu, Jianjun J; Aspesi, Peter P; de Silva, Melanie M; Jagtap, Kalpana K; Jones, Michael D MD; Wang, Li L; Hatton, Charles C; Palescandolo, Emanuele E; Gupta, Supriya S; Mahan, Scott S; Sougnez, Carrie C; Onofrio, Robert C RC; Liefeld, Ted T; MacConaill, Laura L; Winckler, Wendy W; Reich, Michael M; Li, Nanxin N; Mesirov, Jill P JP; Gabriel, Stacey B SB; Getz, Gad G; Ardlie, Kristin K; Chan, Vivien V; Myer, Vic E VE; Weber, Barbara L BL; Porter, Jeff J; Warmuth, Markus M; Finan, Peter P; Harris, Jennifer L JL; Meyerson, Matthew M; Golub, Todd R TR; Morrissey, Michael P MP; Sellers, William R WR; Schlegel, Robert R; Garraway, Levi A LA
Publication Date: 2012-03-28

Variant appearance in text: PTEN: 17_18delAA; K6fs
PubMed Link: 22460905
Variant Present in the following documents:
  • NIHMS361223-supplement-4.xlsx, sheet 3
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