Publications:

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: PTEN: 389delG

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

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Tripartite antigen-agnostic combination immunotherapy cures established poorly immunogenic tumors.

Journal For Immunotherapy Of Cancer

Borchmann, Sven S; Selenz, Carolin C; Lohmann, Mia M; Ludwig, Hanna H; Gassa, Asmae A; Brägelmann, Johannes J; Lohneis, Philipp P; Meder, Lydia L; Mattlener, Julia J; Breid, Sara S; Nill, Marieke M; Fassunke, Jana J; Wisdom, Amy J AJ; Compes, Anik A; Gathof, Birgit B; Alakus, Hakan H; Kirsch, David D; Hekmat, Khosro K; Büttner, Reinhard R; Reinhardt, H Christian HC; Hallek, Michael M; Ullrich, Roland T RT

Publication Date: 2022-10

Variant appearance in text: PTEN: 389delG; R130Qfs*4

PubMed Link: 36223955

Variant Present in the following documents:

• jitc-2022-004781supp002.pdf

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Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine

Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC

Publication Date: 2022-06-16

Variant appearance in text: PTEN: 389delG; R130fs

PubMed Link: 35706047

Variant Present in the following documents:

• 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: PTEN: 389del; R130Qfs*4; rs121913292

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 12
• PCMR-35-369-s003.xlsx, sheet 6

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Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.

Journal Of Gynecologic Oncology

Hong, Jin Hwa JH; Cho, Hyun Woong HW; Ouh, Yung-Taek YT; Lee, Jae Kwan JK; Chun, Yikyeong Y; Gim, Jeong-An JA

Publication Date: 2022-05

Variant appearance in text: PTEN: 389delG; R130Qfs*4

PubMed Link: 35128859

Variant Present in the following documents:

• jgo-33-e29-s002.xls, sheet 1

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Role of ctDNA in Breast Cancer.

Cancers

Sant, Marta M; Bernat-Peguera, Adrià A; Felip, Eudald E; Margelí, Mireia M

Publication Date: 2022-01-09

Variant appearance in text: PTEN: R130Qfs*4

PubMed Link: 35053474

Variant Present in the following documents:

• Main text
• cancers-14-00310.pdf

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Role of ctDNA in Breast Cancer.

Cancers

Sant, Marta M; Bernat-Peguera, Adrià A; Felip, Eudald E; Margelí, Mireia M

Publication Date: 2022-01-09

Variant appearance in text: PTEN: R130Qfs*4

PubMed Link: 35053474

Variant Present in the following documents:

• Main text
• cancers-14-00310.pdf

View BVdb publication page

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The transcriptional landscape of Shh medulloblastoma.

Nature Communications

Skowron, Patryk P; Farooq, Hamza H; Cavalli, Florence M G FMG; Morrissy, A Sorana AS; Ly, Michelle M; Hendrikse, Liam D LD; Wang, Evan Y EY; Djambazian, Haig H; Zhu, Helen H; Mungall, Karen L KL; Trinh, Quang M QM; Zheng, Tina T; Dai, Shizhong S; Stucklin, Ana S Guerreiro ASG; Vladoiu, Maria C MC; Fong, Vernon V; Holgado, Borja L BL; Nor, Carolina C; Wu, Xiaochong X; Abd-Rabbo, Diala D; Bérubé, Pierre P; Wang, Yu Chang YC; Luu, Betty B; Suarez, Raul A RA; Rastan, Avesta A; Gillmor, Aaron H AH; Lee, John J Y JJY; Zhang, Xiao Yun XY; Daniels, Craig C; Dirks, Peter P; Malkin, David D; Bouffet, Eric E; Tabori, Uri U; Loukides, James J; Doz, François P FP; Bourdeaut, Franck F; Delattre, Olivier O OO; Masliah-Planchon, Julien J; Ayrault, Olivier O; Kim, Seung-Ki SK; Meyronet, David D; Grajkowska, Wieslawa A WA; Carlotti, Carlos G CG; de Torres, Carmen C; Mora, Jaume J; Eberhart, Charles G CG; Van Meir, Erwin G EG; Kumabe, Toshihiro T; French, Pim J PJ; Kros, Johan M JM; Jabado, Nada N; Lach, Boleslaw B; Pollack, Ian F IF; Hamilton, Ronald L RL; Rao, Amulya A Nageswara AAN; Giannini, Caterina C; Olson, James M JM; Bognár, László L; Klekner, Almos A; Zitterbart, Karel K; Phillips, Joanna J JJ; Thompson, Reid C RC; Cooper, Michael K MK; Rubin, Joshua B JB; Liau, Linda M LM; Garami, Miklós M; Hauser, Peter P; Li, Kay Ka Wai KKW; Ng, Ho-Keung HK; Poon, Wai Sang WS; Yancey Gillespie, G G; Chan, Jennifer A JA; Jung, Shin S; McLendon, Roger E RE; Thompson, Eric M EM; Zagzag, David D; Vibhakar, Rajeev R; Ra, Young Shin YS; Garre, Maria Luisa ML; Schüller, Ulrich U; Shofuda, Tomoko T; Faria, Claudia C CC; López-Aguilar, Enrique E; Zadeh, Gelareh G; Hui, Chi-Chung CC; Ramaswamy, Vijay V; Bailey, Swneke D SD; Jones, Steven J SJ; Mungall, Andrew J AJ; Moore, Richard A RA; Calarco, John A JA; Stein, Lincoln D LD; Bader, Gary D GD; Reimand, Jüri J; Ragoussis, Jiannis J; Weiss, William A WA; Marra, Marco A MA; Suzuki, Hiromichi H; Taylor, Michael D MD

Publication Date: 2021-03-19

Variant appearance in text: PTEN: 389delG; R130fs

PubMed Link: 33741928

Variant Present in the following documents:

• 41467_2021_21883_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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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: 389delG

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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Gynaecological cancers and their cell lines.

Journal Of Cellular And Molecular Medicine

Skok, Kristijan K; Gradišnik, Lidija L; Maver, Uroš U; Kozar, Nejc N; Sobočan, Monika M; Takač, Iztok I; Arko, Darja D; Kavalar, Rajko R

Publication Date: 2021-04

Variant appearance in text: PTEN: 389delG; Arg130Glnfs*4

PubMed Link: 33650759

Variant Present in the following documents:

• Main text
• JCMM-25-3680.pdf

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Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One

Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R

Publication Date: 2020

Variant appearance in text: PTEN: 389delG; rs121913292

PubMed Link: 32639993

Variant Present in the following documents:

• pone.0235766.s008.xlsx, sheet 3

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PTEN Alterations and Their Role in Cancer Management: Are We Making Headway on Precision Medicine?

Genes

Fusco, Nicola N; Sajjadi, Elham E; Venetis, Konstantinos K; Gaudioso, Gabriella G; Lopez, Gianluca G; Corti, Chiara C; Rocco, Elena Guerini EG; Criscitiello, Carmen C; Malapelle, Umberto U; Invernizzi, Marco M

Publication Date: 2020-06-28

Variant appearance in text: PTEN: 389delG; R130Qfs*4

PubMed Link: 32605290

Variant Present in the following documents:

• Main text
• genes-11-00719.pdf

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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: 389delG; Arg130fs

PubMed Link: 32022266

Variant Present in the following documents:

• IJC-147-478-s001.pdf

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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: 389delG; R130Qfs*4

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: 389delG

PubMed Link: 29876005

Variant Present in the following documents:

• oncotarget-09-25517-s001.pdf

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: PTEN: 389delG; R130fs*4

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Concurrent BRAF and PTEN mutations in melanoma of unknown origin presenting as a breast mass.

Sage Open Medical Case Reports

Agosto-Arroyo, Emmanuel E; Rosa, Marilin M; Chau, Alec A; Khazai, Laila L

Publication Date: 2017

Variant appearance in text: N/A

PubMed Link: 28607685

Variant Present in the following documents:

View BVdb publication page

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Role of YAP1 as a Marker of Sensitivity to Dual AKT and P70S6K Inhibition in Ovarian and Uterine Malignancies.

Journal Of The National Cancer Institute

Previs, Rebecca A RA; Armaiz-Pena, Guillermo N GN; Ivan, Cristina C; Dalton, Heather J HJ; Rupaimoole, Rajesha R; Hansen, Jean M JM; Lyons, Yasmin Y; Huang, Jie J; Haemmerle, Monika M; Wagner, Michael J MJ; Gharpure, Kshipra M KM; Nagaraja, Archana S AS; Filant, Justyna J; McGuire, Michael H MH; Noh, Kyunghee K; Dorniak, Piotr L PL; Linesch, Sarah L SL; Mangala, Lingegowda S LS; Pradeep, Sunila S; Wu, Sherry Y SY; Sood, Anil K AK

Publication Date: 2017-07-01

Variant appearance in text: N/A

PubMed Link: 28376174

Variant Present in the following documents:

View BVdb publication page

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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: 389delG; R130fs*4

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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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: 389delG; R130fs*4

PubMed Link: 26701847

Variant Present in the following documents:

• oncotarget-07-6201-s001.pdf

View BVdb publication page

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Precise Classification of Cervical Carcinomas Combined with Somatic Mutation Profiling Contributes to Predicting Disease Outcome.

Plos One

Spaans, Vivian M VM; Trietsch, Marjolijn D MD; Peters, Alexander A W AA; Osse, Michelle M; Ter Haar, Natalja N; Fleuren, Gert J GJ; Jordanova, Ekaterina S ES

Publication Date: 2015

Variant appearance in text: PTEN: R130fs*4

PubMed Link: 26197069

Variant Present in the following documents:

• Main text
• pone.0133670.pdf

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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: R130fs*4

PubMed Link: 24671188

Variant Present in the following documents:

• Main text
• pone.0093451.pdf

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Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Pennington, Kathryn P KP; Walsh, Tom T; Harrell, Maria I MI; Lee, Ming K MK; Pennil, Christopher C CC; Rendi, Mara H MH; Thornton, Anne A; Norquist, Barbara M BM; Casadei, Silvia S; Nord, Alexander S AS; Agnew, Kathy J KJ; Pritchard, Colin C CC; Scroggins, Sheena S; Garcia, Rochelle L RL; King, Mary-Claire MC; Swisher, Elizabeth M EM

Publication Date: 2014-02-01

Variant appearance in text: PTEN: 389delG

PubMed Link: 24240112

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 389_389delG; R130fs

PubMed Link: 22460905

Variant Present in the following documents:

• NIHMS361223-supplement-4.xlsx, sheet 3

View BVdb publication page

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