Publications:

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Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Molecular Diagnosis & Therapy

Fitzgerald, Sandra S; Blenkiron, Cherie C; Stephens, Rosalie R; Mathy, Jon A JA; Somers-Edgar, Tiffany T; Rolfe, Gill G; Martin, Richard R; Jackson, Christopher C; Eccles, Michael M; Robb, Tamsin T; Rodger, Euan E; Lawrence, Ben B; Guilford, Parry P; Lasham, Annette A; Print, Cristin G CG

Publication Date: 2023-04-26

Variant appearance in text: TERT: R248W

PubMed Link: 37099071

Variant Present in the following documents:

• 40291_2023_651_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Phase Ib study of eprenetapopt (APR-246) in combination with pembrolizumab in patients with advanced or metastatic solid tumors.

Esmo Open

Park, H H; Shapiro, G I GI; Gao, X X; Mahipal, A A; Starr, J J; Furqan, M M; Singh, P P; Ahrorov, A A; Gandhi, L L; Ghosh, A A; Hickman, D D; Gallacher, P D PD; Wennborg, A A; Attar, E C EC; Awad, M M MM; Das, S S; Dumbrava, E E EE

Publication Date: 2022-10

Variant appearance in text: TERT: R248W

PubMed Link: 36084396

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Sequencing of Cutaneous Squamous Cell Carcinoma Primary Tumors and Patient-Matched Metastases Reveals ALK as a Potential Driver in Metastases and Low Mutational Concordance in Immunocompromised Patients.

Jid Innovations : Skin Science From Molecules To Population Health

Lobl, Marissa B MB; Clarey, Dillon D DD; Higgins, Shauna S; Sutton, Adam A; Wysong, Ashley A

Publication Date: 2022-07

Variant appearance in text: TERT: R248W

PubMed Link: 35620707

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One

Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S

Publication Date: 2022

Variant appearance in text: TERT: R248W

PubMed Link: 35358259

Variant Present in the following documents:

• pone.0266112.s001.xlsx, sheet 1

View BVdb publication page

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Clinicopathologic and Molecular Characteristics of Gastrointestinal MiNENs.

Frontiers In Oncology

Yeo, Min-Kyung MK; Yoon, Nara N; Bae, Go Eun GE

Publication Date: 2021

Variant appearance in text: TERT: 742C>T; Arg248Trp

PubMed Link: 34422662

Variant Present in the following documents:

• fonc-11-709097.pdf

View BVdb publication page

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The clonal relation of primary upper urinary tract urothelial carcinoma and paired urothelial carcinoma of the bladder.

International Journal Of Cancer

van Doeveren, Thomas T; Nakauma-Gonzalez, Jose A JA; Mason, Andrew S AS; van Leenders, Geert J L H GJLH; Zuiverloon, Tahlita C M TCM; Zwarthoff, Ellen C EC; Meijssen, Isabelle C IC; van der Made, Angelique C AC; van der Heijden, Antoine G AG; Hendricksen, Kees K; van Rhijn, Bas W G BWG; Voskuilen, Charlotte S CS; van Riet, Job J; Dinjens, Winand N M WNM; Dubbink, Hendrikus J HJ; van de Werken, Harmen J G HJG; Boormans, Joost L JL

Publication Date: 2021-02-15

Variant appearance in text: TERT: 742C>T

PubMed Link: 33006377

Variant Present in the following documents:

• Main text
• IJC-148-981.pdf

View BVdb publication page

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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: TERT: R248W

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Different responses to anti-programmed cell death protein 1 (PD-1) immunotherapy in a patient with Lynch syndrome and metachronous urothelial and colon cancer: A case report.

Oncology Letters

Feng, Yu Y; Cao, Yufeng Y; Yuan, Mingming M; Chen, Rongrong R; Ji, Xue X; Hu, Xingsheng X

Publication Date: 2019-11

Variant appearance in text: TERT: 742C>T; R248C

PubMed Link: 31612019

Variant Present in the following documents:

• Supplementary_Data.pdf

View BVdb publication page

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Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.

Nature Communications

Yan, Ting T; Cui, Heyang H; Zhou, Yong Y; Yang, Bin B; Kong, Pengzhou P; Zhang, Yingchun Y; Liu, Yiqian Y; Wang, Bin B; Cheng, Yikun Y; Li, Jiayi J; Guo, Shixing S; Xu, Enwei E; Liu, Huijuan H; Cheng, Caixia C; Zhang, Ling L; Chen, Ling L; Zhuang, Xiaofei X; Qian, Yu Y; Yang, Jian J; Ma, Yanchun Y; Li, Hongyi H; Wang, Fang F; Liu, Jing J; Liu, Xuefeng X; Su, Dan D; Wang, Yan Y; Sun, Ruifang R; Guo, Shiping S; Li, Yaoping Y; Cheng, Xiaolong X; Liu, Zhihua Z; Zhan, Qimin Q; Cui, Yongping Y

Publication Date: 2019-04-11

Variant appearance in text: TERT: 742C>T; R248W

PubMed Link: 30975989

Variant Present in the following documents:

• 41467_2019_9255_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Granular cell astrocytoma: an aggressive IDH-wildtype diffuse glioma with molecular genetic features of primary glioblastoma.

Brain Pathology (Zurich, Switzerland)

Vizcaino, M Adelita MA; Palsgrove, Doreen N DN; Yuan, Ming M; Giannini, Caterina C; Cabrera-Aldana, Eibar Ernesto EE; Pallavajjala, Aparna A; Burger, Peter C PC; Rodriguez, Fausto J FJ

Publication Date: 2019-03

Variant appearance in text: TERT: R248W

PubMed Link: 30222900

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical, pathological and genetic features of anaplastic and poorly differentiated thyroid cancer: A single institute experience.

Oncology Letters

Romei, Cristina C; Tacito, Alessia A; Molinaro, Eleonora E; Piaggi, Paolo P; Cappagli, Virginia V; Pieruzzi, Letizia L; Matrone, Antonio A; Viola, David D; Agate, Laura L; Torregrossa, Liborio L; Ugolini, Clara C; Basolo, Fulvio F; De Napoli, Luigi L; Curcio, Michele M; Ciampi, Raffaele R; Materazzi, Gabriele G; Vitti, Paolo P; Elisei, Rossella R

Publication Date: 2018-06

Variant appearance in text: TERT: R248W

PubMed Link: 29805648

Variant Present in the following documents:

• ol-15-06-9174.pdf

View BVdb publication page

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RGS7 is recurrently mutated in melanoma and promotes migration and invasion of human cancer cells.

Scientific Reports

Qutob, Nouar N; Masuho, Ikuo I; Alon, Michal M; Emmanuel, Rafi R; Cohen, Isadora I; Di Pizio, Antonella A; Madore, Jason J; Elkahloun, Abdel A; Ziv, Tamar T; Levy, Ronen R; Gartner, Jared J JJ; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Greenberg, Polina P; Brodezki, Alexandra A; Rosenberg, Steven A SA; Kosloff, Mickey M; Hayward, Nicholas K NK; Admon, Arie A; Niv, Masha Y MY; Scolyer, Richard A RA; Martemyanov, Kirill A KA; Samuels, Yardena Y

Publication Date: 2018-01-12

Variant appearance in text: TERT: R248W

PubMed Link: 29330521

Variant Present in the following documents:

• 41598_2017_18851_MOESM3_ESM.xlsx, sheet 1
• 41598_2017_18851_MOESM2_ESM.xlsx, sheet 1

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: TERT: 742C>T; R248W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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: TERT: R248W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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