Publications:

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Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.

Cancers

Horackova, Klara K; Frankova, Sona S; Zemankova, Petra P; Nehasil, Petr P; Cerna, Marta M; Neroldova, Magdalena M; Otahalova, Barbora B; Kral, Jan J; Hovhannisyan, Milena M; Stranecky, Viktor V; Zima, Tomas T; Safarikova, Marketa M; Kalousova, Marta M; Consortium, Czecanca C; Novotny, Jan J; Sperl, Jan J; Borecka, Marianna M; Jelinkova, Sandra S; Vocka, Michal M; Janatova, Marketa M; Kleiblova, Petra P; Kleibl, Zdenek Z; Jirsa, Milan M; Soukupova, Jana J

Publication Date: 2022-12-29

Variant appearance in text: RET: 2304G>C; Glu768Asp

PubMed Link: 36612198

Variant Present in the following documents:

• cancers-15-00201.pdf

View BVdb publication page

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Temporal trends in referrals of RET gene carriers for neck surgery to a tertiary surgical center in the era of international management guidelines.

Endocrine

Machens, Andreas A; Lorenz, Kerstin K; Huessler, Eva-Maria EM; Stang, Andreas A; Weber, Frank F; Dralle, Henning H

Publication Date: 2022-12-02

Variant appearance in text: RET: Glu768Asp

PubMed Link: 36456885

Variant Present in the following documents:

• Main text
• 12020_2022_Article_3273.pdf

View BVdb publication page

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RET Proto-Oncogene-Not Such an Obvious Starting Point in Cancer Therapy.

Cancers

Kucharczyk, Tomasz T; Krawczyk, Paweł P; Kowalski, Dariusz M DM; Płużański, Adam A; Kubiatowski, Tomasz T; Kalinka, Ewa E

Publication Date: 2022-10-27

Variant appearance in text: MEN2A: E768D

PubMed Link: 36358717

Variant Present in the following documents:

• Main text
• cancers-14-05298.pdf

View BVdb publication page

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Pan-cancer efficacy of pralsetinib in patients with RET fusion-positive solid tumors from the phase 1/2 ARROW trial.

Nature Medicine

Subbiah, Vivek V; Cassier, Philippe A PA; Siena, Salvatore S; Garralda, Elena E; Paz-Ares, Luis L; Garrido, Pilar P; Nadal, Ernest E; Vuky, Jacqueline J; Lopes, Gilberto G; Kalemkerian, Gregory P GP; Bowles, Daniel W DW; Seetharam, Mahesh M; Chang, Jianhua J; Zhang, Hui H; Green, Jennifer J; Zalutskaya, Alena A; Schuler, Martin M; Fan, Yun Y; Curigliano, Giuseppe G

Publication Date: 2022-08

Variant appearance in text: RET: E768D

PubMed Link: 35962206

Variant Present in the following documents:

• 41591_2022_1931_MOESM1_ESM.pdf

View BVdb publication page

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Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Frontiers In Oncology

Yin, Xiang-Qian XQ; Yin, Xue-Hui XH; Yu, Ya-Qin YQ; Xu, Lang L; Zhang, Mao M

Publication Date: 2022

Variant appearance in text: RET: 2304G>C; E768D

PubMed Link: 35936718

Variant Present in the following documents:

• Table_4.xlsx, sheet 2

View BVdb publication page

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Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology

Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 35865963

Variant Present in the following documents:

View BVdb publication page

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Multiple endocrine neoplasia 2: an overview.

Therapeutic Advances In Chronic Disease

Saravana-Bawan, B B; Pasternak, J D JD

Publication Date: 2022

Variant appearance in text: RET: Glu768Asp

PubMed Link: 35237400

Variant Present in the following documents:

• Main text
• 10.1177_20406223221079246.pdf

View BVdb publication page

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Active Surveillance in RET Gene Carriers Belonging to Families with Multiple Endocrine Neoplasia.

Cancers

Prete, Alessandro A; Matrone, Antonio A; Gambale, Carla C; Bottici, Valeria V; Cappagli, Virginia V; Romei, Cristina C; Torregrossa, Liborio L; Valerio, Laura L; Minaldi, Elisa E; Campopiano, Maria Cristina MC; Lorusso, Loredana L; Agate, Laura L; Molinaro, Eleonora E; Viola, David D; Ramone, Teresa T; Mulè, Chiara C; Ciampi, Raffaele R; Basolo, Fulvio F; Elisei, Rossella R

Publication Date: 2021-11-05

Variant appearance in text: RET: E768D

PubMed Link: 34771717

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: RET: E768D

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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[Research Progress of Fusion Genes RET in Non-small Cell Lung Cancer].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer

Zheng, Yujun Y; Jiang, Wei W; Chen, Dongyan D; Li, Yanjun Y; Dai, Lulu L; Huang, Lei L; Wang, Mingji M

Publication Date: 2021-08-20

Variant appearance in text: RET: E768D

PubMed Link: 34120433

Variant Present in the following documents:

• Main text

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: RET: 2304G>C; E768D

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.

International Journal Of Molecular Sciences

Romei, Cristina C; Elisei, Rossella R

Publication Date: 2021-02-09

Variant appearance in text: MEN2A: E768D

PubMed Link: 33572167

Variant Present in the following documents:

• Main text
• ijms-22-01726.pdf

View BVdb publication page

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Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.

Cancers

Innella, Giovanni G; Rossi, Cesare C; Romagnoli, Maria M; Repaci, Andrea A; Bianchi, Davide D; Cantarini, Maria Elena ME; Martorana, Davide D; Godino, Lea L; Pession, Andrea A; Percesepe, Antonio A; Pagotto, Uberto U; Turchetti, Daniela D

Publication Date: 2020-11-05

Variant appearance in text: MEN2B: Glu768Asp

PubMed Link: 33167350

Variant Present in the following documents:

• Main text
• cancers-12-03268.pdf

View BVdb publication page

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Roles of the RET Proto-oncogene in Cancer and Development.

Jma Journal

Takahashi, Masahide M; Kawai, Kumi K; Asai, Naoya N

Publication Date: 2020-07-15

Variant appearance in text: RET: E768D

PubMed Link: 33150251

Variant Present in the following documents:

• Main text

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs78014899

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic testing in endocrine surgery: Opportunities for precision surgery.

Surgery

Alobuia, Wilson W; Annes, Justin J; Kebebew, Electron E

Publication Date: 2020-08

Variant appearance in text: RET: E768D

PubMed Link: 32376047

Variant Present in the following documents:

• Main text

View BVdb publication page

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Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Endocrine Connections

Larsen, Louise Vølund LV; Mirebeau-Prunier, Delphine D; Imai, Tsuneo T; Alvarez-Escola, Cristina C; Hasse-Lazar, Kornelia K; Censi, Simona S; Castroneves, Luciana A LA; Sakurai, Akihiro A; Kihara, Minoru M; Horiuchi, Kiyomi K; Barbu, Véronique Dorine VD; Borson-Chazot, Francoise F; Gimenez-Roqueplo, Anne-Paule AP; Pigny, Pascal P; Pinson, Stephane S; Wohllk, Nelson N; Eng, Charis C; Aydogan, Berna Imge BI; Saranath, Dhananjaya D; Dvorakova, Sarka S; Castinetti, Frederic F; Patocs, Attila A; Bergant, Damijan D; Links, Thera P TP; Peczkowska, Mariola M; Hoff, Ana O AO; Mian, Caterina C; Dwight, Trisha T; Jarzab, Barbara B; Neumann, Hartmut P H HPH; Robledo, Mercedes M; Uchino, Shinya S; Barlier, Anne A; Godballe, Christian C; Mathiesen, Jes Sloth JS

Publication Date: 2020-06

Variant appearance in text: RET: E768D

PubMed Link: 32375120

Variant Present in the following documents:

• Main text
• EC-20-0163.pdf

View BVdb publication page

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Molecular Diagnostic of Solid Tumor Using a Next Generation Sequencing Custom-Designed Multi-Gene Panel.

Diagnostics (Basel, Switzerland)

de Biase, Dario D; Acquaviva, Giorgia G; Visani, Michela M; Sanza, Viviana V; Argento, Chiara M CM; De Leo, Antonio A; Maloberti, Thais T; Pession, Annalisa A; Tallini, Giovanni G

Publication Date: 2020-04-23

Variant appearance in text: RET: 2304G>C; E768D

PubMed Link: 32340363

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: RET: E768D

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: N/A

PubMed Link: 31819097

Variant Present in the following documents:

View BVdb publication page

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: RET: 2304G>C; E768D

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences

Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ

Publication Date: 2019

Variant appearance in text: RET: Glu768Asp

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

View BVdb publication page

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Twenty-Five Years Experience on RET Genetic Screening on Hereditary MTC: An Update on The Prevalence of Germline RET Mutations.

Genes

Elisei, Rossella R; Tacito, Alessia A; Ramone, Teresa T; Ciampi, Raffaele R; Bottici, Valeria V; Cappagli, Virginia V; Viola, David D; Matrone, Antonio A; Lorusso, Loredana L; Valerio, Laura L; Giani, Carlotta C; Campopiano, Cristina C; Prete, Alessandro A; Agate, Laura L; Molinaro, Eleonora E; Romei, Cristina C

Publication Date: 2019-09-10

Variant appearance in text: RET: E768D

PubMed Link: 31510104

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study.

Endocrine Connections

Maciel, Rui M B RMB; Camacho, Cleber P CP; Assumpção, Lígia V M LVM; Bufalo, Natassia E NE; Carvalho, André L AL; de Carvalho, Gisah A GA; Castroneves, Luciana A LA; de Castro, Francisco M FM; Ceolin, Lucieli L; Cerutti, Janete M JM; Corbo, Rossana R; Ferraz, Tânia M B L TMBL; Ferreira, Carla V CV; França, M Inez C MIC; Galvão, Henrique C R HCR; Germano-Neto, Fausto F; Graf, Hans H; Jorge, Alexander A L AAL; Kunii, Ilda S IS; Lauria, Márcio W MW; Leal, Vera L G VLG; Lindsey, Susan C SC; Lourenço, Delmar M DM; Maciel, Léa M Z LMZ; Magalhães, Patrícia K R PKR; Martins, João R M JRM; Martins-Costa, M Cecília MC; Mazeto, Gláucia M F S GMFS; Impellizzeri, Anelise I AI; Nogueira, Célia R CR; Palmero, Edenir I EI; Pessoa, Cencita H C N CHCN; Prada, Bibiana B; Siqueira, Débora R DR; Sousa, Maria Sharmila A MSA; Toledo, Rodrigo A RA; Valente, Flávia O F FOF; Vaisman, Fernanda F; Ward, Laura S LS; Weber, Shana S SS; Weiss, Rita V RV; Yang, Ji H JH; Dias-da-Silva, Magnus R MR; Hoff, Ana O AO; Toledo, Sergio P A SPA; Maia, Ana L AL

Publication Date: 2019-03-01

Variant appearance in text: RET: E768D

PubMed Link: 30763276

Variant Present in the following documents:

• Main text
• EC-18-0506.pdf

View BVdb publication page

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A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.

Archives Of Endocrinology And Metabolism

Martins-Costa, Maria Cecília MC; Lindsey, Susan C SC; Cunha, Lucas L LL; Carreiro-Filho, Fernando Porto FP; Cortez, André P AP; Holanda, Marcelo E ME; Farias, J Wilson M de JWM; Lima, Sérgio B SB; Ferreira, Luís A Albano LAA; Maia Filho, Pedro Collares PC; Camacho, Cléber P CP; Furuzawa, Gilberto K GK; Kunii, Ilda S IS; Dias-da-Silva, Magnus R MR; Martins, João R M JRM; Maciel, Rui M B RMB

Publication Date: 2018

Variant appearance in text: RET: E768D

PubMed Link: 30624503

Variant Present in the following documents:

• Main text
• 2359-4292-aem-62-06-0623.pdf

View BVdb publication page

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Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Virchows Archiv : An International Journal Of Pathology

Williams, Hannah L HL; Walsh, Kathy K; Diamond, Austin A; Oniscu, Anca A; Deans, Zandra C ZC

Publication Date: 2018-10

Variant appearance in text: RET: 2304G>C; E768D

PubMed Link: 30105577

Variant Present in the following documents:

• 428_2018_2411_MOESM2_ESM.xlsx, sheet 1
• 428_2018_2411_MOESM3_ESM.xlsx, sheet 1
• 428_2018_2411_MOESM1_ESM.xlsx, sheet 4
• 428_2018_2411_MOESM1_ESM.xlsx, sheet 3
• 428_2018_2411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: RET: 2304G>C; E768D

PubMed Link: 30064409

Variant Present in the following documents:

• 12894_2018_380_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives.

Biomarker Insights

Khatami, Fatemeh F; Tavangar, Seyed Mohammad SM

Publication Date: 2018

Variant appearance in text: RET: Glu768Asp

PubMed Link: 30013307

Variant Present in the following documents:

• Main text
• 10.1177_1177271918785129.pdf

View BVdb publication page

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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: RET: 2304G>C; E768D

PubMed Link: 29659903

Variant Present in the following documents:

• hyy052supplementaltable1ionver1.xls, sheet 1

View BVdb publication page

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p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.

The Journal Of Clinical Endocrinology And Metabolism

Loveday, Chey C; Josephs, Katherine K; Chubb, Daniel D; Gunning, Adam A; Izatt, Louise L; Tischkowitz, Marc M; Ellard, Sian S; Turnbull, Clare C

Publication Date: 2018-11-01

Variant appearance in text: RET: Glu768Asp

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: RET: 2304G>C; E768D

PubMed Link: 29161613

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Advances in the management of MEN2: from improved surgical and medical treatment to novel kinase inhibitors.

Endocrine-Related Cancer

Wells, Samuel A SA

Publication Date: 2018-02

Variant appearance in text: RET: E768D

PubMed Link: 29142004

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeting RET-driven cancers: lessons from evolving preclinical and clinical landscapes.

Nature Reviews. Clinical Oncology

Drilon, Alexander A; Hu, Zishuo I ZI; Lai, Gillianne G Y GGY; Tan, Daniel S W DSW

Publication Date: 2018-03

Variant appearance in text: RET: E768D

PubMed Link: 29134959

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic and Epigenetic of Medullary Thyroid Cancer

Iranian Biomedical Journal

Khatami, Fatemeh F; Tavangar, Seyed Mohammad SM

Publication Date: 2018-05-01

Variant appearance in text: RET: E768D

PubMed Link: 29126344

Variant Present in the following documents:

• Main text
• IBJ-22-142.pdf

View BVdb publication page

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Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome.

Jama Dermatology

Alegría-Landa, Victoria V; Jo-Velasco, Margarita M; Robledo, Mercedes M; Requena, Luis L

Publication Date: 2017-12-01

Variant appearance in text: N/A

PubMed Link: 29049491

Variant Present in the following documents:

View BVdb publication page

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Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.

Clinical Cases In Mineral And Bone Metabolism : The Official Journal Of The Italian Society Of Osteoporosis, Mineral Metabolism, And Skeletal Diseases

Marini, Francesca F; Cianferotti, Luisella L; Giusti, Francesca F; Brandi, Maria Luisa ML

Publication Date: 2017

Variant appearance in text: RET: E768D

PubMed Link: 28740527

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: N/A

PubMed Link: 28716134

Variant Present in the following documents:

View BVdb publication page

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Nodular Thyroid Disease and Thyroid Cancer in the Era of Precision Medicine.

European Thyroid Journal

Zafon, Carles C; Díez, Juan J JJ; Galofré, Juan C JC; Cooper, David S DS

Publication Date: 2017-04

Variant appearance in text: N/A

PubMed Link: 28589087

Variant Present in the following documents:

View BVdb publication page

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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: RET: 2304G>C; Glu768Asp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Plos One

Giannoulatou, Eleni E; Maher, Geoffrey J GJ; Ding, Zhihao Z; Gillis, Ad J M AJM; Dorssers, Lambert C J LCJ; Hoischen, Alexander A; Rajpert-De Meyts, Ewa E; , ; McVean, Gilean G; Wilkie, Andrew O M AOM; Looijenga, Leendert H J LHJ; Goriely, Anne A

Publication Date: 2017

Variant appearance in text: N/A

PubMed Link: 28542371

Variant Present in the following documents:

View BVdb publication page

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Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research

Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U

Publication Date: 2017-04

Variant appearance in text: RET: 2304G>C; E768D

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

View BVdb publication page

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Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.

Thyroid : Official Journal Of The American Thyroid Association

Mathiesen, Jes Sloth JS; Kroustrup, Jens Peter JP; Vestergaard, Peter P; Stochholm, Kirstine K; Poulsen, Per Løgstrup PL; Rasmussen, Åse Krogh ÅK; Feldt-Rasmussen, Ulla U; Gaustadnes, Mette M; Ørntoft, Torben Falck TF; van Overeem Hansen, Thomas T; Nielsen, Finn Cilius FC; Brixen, Kim K; Godballe, Christian C; Frederiksen, Anja Lisbeth AL

Publication Date: 2017-02

Variant appearance in text: RET: E768D

PubMed Link: 27809725

Variant Present in the following documents:

• Main text
• thy.2016.0411.pdf

View BVdb publication page

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Pediatric Medullary Thyroid Carcinoma.

Journal Of Pediatric Oncology

Starenki, Dmytro D; Park, Jong-In JI

Publication Date: 2015

Variant appearance in text: RET: E768D

PubMed Link: 27014708

Variant Present in the following documents:

• Main text
• nihms764981.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: N/A

PubMed Link: 26659599

Variant Present in the following documents:

View BVdb publication page

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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: RET: 2304G>C; E768D

PubMed Link: 26527317

Variant Present in the following documents:

• oncotarget-06-43731-s002.xlsx, sheet 1

View BVdb publication page

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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: RET: 2304G>C; E768D

PubMed Link: 26296973

Variant Present in the following documents:

• oncotarget-06-25619-s003.xls, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: N/A

PubMed Link: 26206375

Variant Present in the following documents:

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Selective use of vandetanib in the treatment of thyroid cancer.

Drug Design, Development And Therapy

Fallahi, Poupak P; Di Bari, Flavia F; Ferrari, Silvia Martina SM; Spisni, Roberto R; Materazzi, Gabriele G; Miccoli, Paolo P; Benvenga, Salvatore S; Antonelli, Alessandro A

Publication Date: 2015

Variant appearance in text: RET: E768D

PubMed Link: 26170630

Variant Present in the following documents:

• Main text

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Identification of Novel Small Molecule Inhibitors of Oncogenic RET Kinase.

Plos One

Moccia, Marialuisa M; Liu, Qingsong Q; Guida, Teresa T; Federico, Giorgia G; Brescia, Annalisa A; Zhao, Zheng Z; Choi, Hwan Geun HG; Deng, Xianming X; Tan, Li L; Wang, Jinhua J; Billaud, Marc M; Gray, Nathanael S NS; Carlomagno, Francesca F; Santoro, Massimo M

Publication Date: 2015

Variant appearance in text: RET: E768D

PubMed Link: 26046350

Variant Present in the following documents:

• Main text
• pone.0128364.pdf

View BVdb publication page

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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: RET: 2304G>C; E768D

PubMed Link: 26009992

Variant Present in the following documents:

• oncotarget-06-24499-s002.xlsx, sheet 1

View BVdb publication page

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Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Thyroid : Official Journal Of The American Thyroid Association

Wells, Samuel A SA; Asa, Sylvia L SL; Dralle, Henning H; Elisei, Rossella R; Evans, Douglas B DB; Gagel, Robert F RF; Lee, Nancy N; Machens, Andreas A; Moley, Jeffrey F JF; Pacini, Furio F; Raue, Friedhelm F; Frank-Raue, Karin K; Robinson, Bruce B; Rosenthal, M Sara MS; Santoro, Massimo M; Schlumberger, Martin M; Shah, Manisha M; Waguespack, Steven G SG; ,

Publication Date: 2015-06

Variant appearance in text: N/A

PubMed Link: 25810047

Variant Present in the following documents:

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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: N/A

PubMed Link: 25523272

Variant Present in the following documents:

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Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocrine-Related Cancer

Toledo, Rodrigo A RA; Hatakana, Roxanne R; Lourenço, Delmar M DM; Lindsey, Susan C SC; Camacho, Cleber P CP; Almeida, Marcio M; Lima, José V JV; Sekiya, Tomoko T; Garralda, Elena E; Naslavsky, Michel S MS; Yamamoto, Guilherme L GL; Lazar, Monize M; Meirelles, Osorio O; Sobreira, Tiago J P TJ; Lebrao, Maria Lucia ML; Duarte, Yeda A O YA; Blangero, John J; Zatz, Mayana M; Cerutti, Janete M JM; Maciel, Rui M B RM; Toledo, Sergio P A SP

Publication Date: 2015-02

Variant appearance in text: RET: 2304G>C; E768D

PubMed Link: 25425582

Variant Present in the following documents:

• supp_ERC-14-0491_Supplementary_table_4.xlsx, sheet 1
• supp_ERC-14-0491_Supplementary_table_3.xlsx, sheet 1
• ERC140491.pdf

View BVdb publication page

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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: RET: 2304G>C; E768D

PubMed Link: 25372287

Variant Present in the following documents:

• pone.0111693.s003.xls, sheet 1

View BVdb publication page

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Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

The Journal Of Molecular Diagnostics : Jmd

MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI

Publication Date: 2014-11

Variant appearance in text: RET: E768D

PubMed Link: 25157968

Variant Present in the following documents:

• Main text

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Selective activity over a constitutively active RET-variant of the oral multikinase inhibitor dovitinib: results of the CNIO-BR002 phase I-trial.

Molecular Oncology

Quintela-Fandino, Miguel M; Bueno, Maria J MJ; Lombardia, Luis L; Gil, Marta M; Gonzalez-Martin, Antonio A; Marquez, Raul R; Bratos, Raquel R; Guerra, Juan J; Tan, Eugene E; Lopez, Antonio A; Colomer, Ramon R; Salazar, Ramon R

Publication Date: 2014-12

Variant appearance in text: RET: E768D; rs78014899

PubMed Link: 25103625

Variant Present in the following documents:

• Main text

View BVdb publication page

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Thyroid Cancer: Role of RET and Beyond.

European Thyroid Journal

Carlomagno, Francesca F

Publication Date: 2012-04

Variant appearance in text: N/A

PubMed Link: 24782993

Variant Present in the following documents:

View BVdb publication page

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