Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TSC2: R988C; rs763047420

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1
• mmc3.xlsx, sheet 1

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Evolutionary Trajectories of Primary and Metastatic Pancreatic Neuroendocrine Tumors Based on Genomic Variations.

Genes

Xu, Midie M; Yan, Jiuliang J; Hu, Beiyuan B; Wu, Chuntao C; Gu, Haitao H; Qi, Zihao Z; Chen, Tao T; Yang, Wenting W; Zheng, Yan Y; Dong, Hanguang H; Sheng, Weiqi W; Long, Jiang J

Publication Date: 2022-09-04

Variant appearance in text: TSC2: 2962C>T; Arg988Cys

PubMed Link: 36140756

Variant Present in the following documents:

• genes-13-01588.pdf

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Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.

Journal Of Hepatology

Sumazin, Pavel P; Peters, Tricia L TL; Sarabia, Stephen F SF; Kim, Hyunjae R HR; Urbicain, Martin M; Hollingsworth, Emporia Faith EF; Alvarez, Karla R KR; Perez, Cintia R CR; Pozza, Alice A; Najaf Panah, Mohammad Javad MJ; Epps, Jessica L JL; Scorsone, Kathy K; Zorman, Barry B; Katzenstein, Howard H; O'Neill, Allison F AF; Meyers, Rebecka R; Tiao, Greg G; Geller, Jim J; Ranganathan, Sarangarajan S; Rangaswami, Arun A AA; Woodfield, Sarah E SE; Goss, John A JA; Vasudevan, Sanjeev A SA; Heczey, Andras A; Roy, Angshumoy A; Fisher, Kevin E KE; Alaggio, Rita R; Patel, Kalyani R KR; Finegold, Milton J MJ; López-Terrada, Dolores H DH

Publication Date: 2022-10

Variant appearance in text: TSC2: 2962C>T; R988C

PubMed Link: 35577029

Variant Present in the following documents:

• mmc5.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: TSC2: R988C

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 12

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Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology

Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G

Publication Date: 2021-01-22

Variant appearance in text: TSC2: R988C

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.pdf

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Clinicopathological characteristics and genetic analysis of pulmonary carcinoid tumors: A single-center retrospective cohort study and literature review.

Oncology Letters

Li, Xiongfei X; Hou, Yuelong Y; Shi, Tao T; He, Yue Y; Ren, Dian D; Song, Zuoqing Z; Wei, Sen S; Chen, Gang G; Chen, Jun J; Xu, Song S

Publication Date: 2020-03

Variant appearance in text: TSC2: R988C

PubMed Link: 32194744

Variant Present in the following documents:

• Main text
• ol-19-03-2446.pdf

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: TSC2: 2962C>T; R988C

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

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DRUGPATH - a novel bioinformatic approach identifies DNA-damage pathway as a regulator of size maintenance in human ESCs and iPSCs.

Scientific Reports

Kovacic, Boris B; Rosner, Margit M; Schlangen, Karin K; Kramer, Nina N; Hengstschläger, Markus M

Publication Date: 2019-02-13

Variant appearance in text: TSC2: R988C

PubMed Link: 30760778

Variant Present in the following documents:

• 41598_2018_37491_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: TSC2: R988C

PubMed Link: 29684080

Variant Present in the following documents:

• Main text
• pgen.1007352.pdf

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Wide spetcrum mutational analysis of metastatic renal cell cancer: a retrospective next generation sequencing approach.

Oncotarget

Fiorentino, Michelangelo M; Gruppioni, Elisa E; Massari, Francesco F; Giunchi, Francesca F; Altimari, Annalisa A; Ciccarese, Chiara C; Bimbatti, Davide D; Scarpa, Aldo A; Iacovelli, Roberto R; Porta, Camillo C; Virinder, Sarhadi S; Tortora, Giampaolo G; Artibani, Walter W; Schiavina, Riccardo R; Ardizzoni, Andrea A; Brunelli, Matteo M; Knuutila, Sakari S; Martignoni, Guido G

Publication Date: 2017-01-31

Variant appearance in text: TSC2: 2962C>T; R988C

PubMed Link: 27741505

Variant Present in the following documents:

• oncotarget-08-7328.pdf

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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: TSC2: 2962C>T; R988C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: TSC2: 2962C>T; R988C

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

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Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.

Plos One

Darbro, Benjamin W BW; Singh, Rohini R; Zimmerman, M Bridget MB; Mahajan, Vinit B VB; Bassuk, Alexander G AG

Publication Date: 2016

Variant appearance in text: TSC2: R988C

PubMed Link: 26934580

Variant Present in the following documents:

• Main text
• pone.0149041.pdf

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Combined drug action of 2-phenylimidazo[2,1-b]benzothiazole derivatives on cancer cells according to their oncogenic molecular signatures.

Plos One

Furlan, Alessandro A; Roux, Benjamin B; Lamballe, Fabienne F; Conti, Filippo F; Issaly, Nathalie N; Daian, Fabrice F; Guillemot, Jean-François JF; Richelme, Sylvie S; Contensin, Magali M; Bosch, Joan J; Passarella, Daniele D; Piccolo, Oreste O; Dono, Rosanna R; Maina, Flavio F

Publication Date: 2012

Variant appearance in text: TSC2: R988C

PubMed Link: 23071625

Variant Present in the following documents:

• Main text
• pone.0046738.pdf

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Autophagy limits the cytotoxic effects of the AKT inhibitor AZ7328 in human bladder cancer cells.

Cancer Biology & Therapy

Dickstein, Rian J RJ; Nitti, Giovanni G; Dinney, Colin P CP; Davies, Barry R BR; Kamat, Ashish M AM; McConkey, David J DJ

Publication Date: 2012-11

Variant appearance in text: TSC2: R988C

PubMed Link: 22895070

Variant Present in the following documents:

• Main text

View BVdb publication page

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