Publications:

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Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports

Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ

Publication Date: 2021-11-16

Variant appearance in text: PTEN: 720C>A; Tyr240*

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

View BVdb publication page

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Occurence of RAS reversion in metastatic colorectal cancer patients treated with bevacizumab.

Oncotarget

Epistolio, Samantha S; Cefalì, Marco M; Spina, Paolo P; Molinari, Francesca F; Movilia, Alessandra A; Cergnul, Massimiliano M; Mazzucchelli, Luca L; De Dosso, Sara S; Frattini, Milo M; Saletti, Piercarlo P

Publication Date: 2021-05-25

Variant appearance in text: PTEN: Y240*

PubMed Link: 34084279

Variant Present in the following documents:

• oncotarget-12-1046.pdf

View BVdb publication page

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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: Y240*

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes.

Genome Biology

Sakthikumar, Sharadha S; Roy, Ananya A; Haseeb, Lulu L; Pettersson, Mats E ME; Sundström, Elisabeth E; Marinescu, Voichita D VD; Lindblad-Toh, Kerstin K; Forsberg-Nilsson, Karin K

Publication Date: 2020-06-09

Variant appearance in text: PTEN: Y240*

PubMed Link: 32513296

Variant Present in the following documents:

• 13059_2020_2035_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: 720C>A; Y240*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports

Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U

Publication Date: 2018-09-10

Variant appearance in text: PTEN: Y240*

PubMed Link: 30202034

Variant Present in the following documents:

• 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

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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: 720C>A; Y240*

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1
• PATH-245-283-s020.xlsx, sheet 1

View BVdb publication page

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Genomic and epigenomic analysis of high-risk prostate cancer reveals changes in hydroxymethylation and TET1.

Oncotarget

Spans, Lien L; Van den Broeck, Thomas T; Smeets, Elien E; Prekovic, Stefan S; Thienpont, Bernard B; Lambrechts, Diether D; Karnes, R Jeffrey RJ; Erho, Nicholas N; Alshalalfa, Mohammed M; Davicioni, Elai E; Helsen, Christine C; Gevaert, Thomas T; Tosco, Lorenzo L; Haustermans, Karin K; Lerut, Evelyne E; Joniau, Steven S; Claessens, Frank F

Publication Date: 2016-04-26

Variant appearance in text: PTEN: Y240*

PubMed Link: 27014907

Variant Present in the following documents:

• oncotarget-07-24326-s004.xlsx, sheet 1

View BVdb publication page

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Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma.

Nature Communications

De Mattos-Arruda, Leticia L; Mayor, Regina R; Ng, Charlotte K Y CKY; Weigelt, Britta B; Martínez-Ricarte, Francisco F; Torrejon, Davis D; Oliveira, Mafalda M; Arias, Alexandra A; Raventos, Carolina C; Tang, Jiabin J; Guerini-Rocco, Elena E; Martínez-Sáez, Elena E; Lois, Sergio S; Marín, Oscar O; de la Cruz, Xavier X; Piscuoglio, Salvatore S; Towers, Russel R; Vivancos, Ana A; Peg, Vicente V; Ramon y Cajal, Santiago S; Carles, Joan J; Rodon, Jordi J; González-Cao, María M; Tabernero, Josep J; Felip, Enriqueta E; Sahuquillo, Joan J; Berger, Michael F MF; Cortes, Javier J; Reis-Filho, Jorge S JS; Seoane, Joan J

Publication Date: 2015-11-10

Variant appearance in text: PTEN: Y240X

PubMed Link: 26554728

Variant Present in the following documents:

• ncomms9839-s3.xlsx, sheet 1
• ncomms9839.pdf
• ncomms9839-s1.pdf

View BVdb publication page

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Mutational and gene fusion analyses of primary large cell and large cell neuroendocrine lung cancer.

Oncotarget

Karlsson, Anna A; Brunnström, Hans H; Lindquist, Kajsa Ericson KE; Jirström, Karin K; Jönsson, Mats M; Rosengren, Frida F; Reuterswärd, Christel C; Cirenajwis, Helena H; Borg, Åke Å; Jönsson, Per P; Planck, Maria M; Jönsson, Göran G; Staaf, Johan J

Publication Date: 2015-09-08

Variant appearance in text: PTEN: 720C>A; Tyr240Ter

PubMed Link: 26124082

Variant Present in the following documents:

• oncotarget-06-22028-s003.xlsx, sheet 1
• oncotarget-06-22028-s004.xlsx, sheet 3

View BVdb publication page

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KLLN epigenotype-phenotype associations in Cowden syndrome.

European Journal Of Human Genetics : Ejhg

Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C

Publication Date: 2015-11

Variant appearance in text: PTEN: 720C>A; Tyr240*

PubMed Link: 25669429

Variant Present in the following documents:

View BVdb publication page

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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: Y240*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Ngeow, Joanne J; Stanuch, Kim K; Mester, Jessica L JL; Barnholtz-Sloan, Jill S JS; Eng, Charis C

Publication Date: 2014-06-10

Variant appearance in text: PTEN: 720C>A; Tyr240*

PubMed Link: 24778394

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

Gastroenterology

Heald, Brandie B; Mester, Jessica J; Rybicki, Lisa L; Orloff, Mohammed S MS; Burke, Carol A CA; Eng, Charis C

Publication Date: 2010-12

Variant appearance in text: N/A

PubMed Link: 20600018

Variant Present in the following documents:

View BVdb publication page

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