Publications:

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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: R912P

PubMed Link: 35962206

Variant Present in the following documents:

• 41591_2022_1931_MOESM1_ESM.pdf

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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: Arg912Pro

PubMed Link: 35237400

Variant Present in the following documents:

• Main text
• 10.1177_20406223221079246.pdf

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: rs78347871

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: R912P

PubMed Link: 32376047

Variant Present in the following documents:

• Main text

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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: R912P

PubMed Link: 32375120

Variant Present in the following documents:

• Main text
• EC-20-0163.pdf

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: RET: R912P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: RET: 2735G>C; Arg912Pro

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.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: Arg912Pro

PubMed Link: 30013307

Variant Present in the following documents:

• Main text
• 10.1177_1177271918785129.pdf

View BVdb publication page

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Pathogenic Germline Variants in 10,389 Adult Cancers.

Cell

Huang, Kuan-Lin KL; Mashl, R Jay RJ; Wu, Yige Y; Ritter, Deborah I DI; Wang, Jiayin J; Oh, Clara C; Paczkowska, Marta M; Reynolds, Sheila S; Wyczalkowski, Matthew A MA; Oak, Ninad N; Scott, Adam D AD; Krassowski, Michal M; Cherniack, Andrew D AD; Houlahan, Kathleen E KE; Jayasinghe, Reyka R; Wang, Liang-Bo LB; Zhou, Daniel Cui DC; Liu, Di D; Cao, Song S; Kim, Young Won YW; Koire, Amanda A; McMichael, Joshua F JF; Hucthagowder, Vishwanathan V; Kim, Tae-Beom TB; Hahn, Abigail A; Wang, Chen C; McLellan, Michael D MD; Al-Mulla, Fahd F; Johnson, Kimberly J KJ; , ; Lichtarge, Olivier O; Boutros, Paul C PC; Raphael, Benjamin B; Lazar, Alexander J AJ; Zhang, Wei W; Wendl, Michael C MC; Govindan, Ramaswamy R; Jain, Sanjay S; Wheeler, David D; Kulkarni, Shashikant S; Dipersio, John F JF; Reimand, Jüri J; Meric-Bernstam, Funda F; Chen, Ken K; Shmulevich, Ilya I; Plon, Sharon E SE; Chen, Feng F; Ding, Li L

Publication Date: 2018-04-05

Variant appearance in text: RET: R912P

PubMed Link: 29625052

Variant Present in the following documents:

• Main text

View BVdb publication page

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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: RET: 2735G>C

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-5.xlsx, 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: 2735G>C

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

View BVdb publication page

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Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Oncotarget

Gudernova, Iva I; Balek, Lukas L; Varecha, Miroslav M; Kucerova, Jana Fialova JF; Kunova Bosakova, Michaela M; Fafilek, Bohumil B; Palusova, Veronika V; Uldrijan, Stjepan S; Trantirek, Lukas L; Krejci, Pavel P

Publication Date: 2017-12-12

Variant appearance in text: RET: R912P

PubMed Link: 29312610

Variant Present in the following documents:

• Main text
• oncotarget-08-109319.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs78347871

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: R912P

PubMed Link: 29142004

Variant Present in the following documents:

• Main text

View BVdb publication page

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Medullary Thyroid Carcinoma in MEN2A: ATA Moderate- or High-Risk RET Mutations Do Not Predict Disease Aggressiveness.

The Journal Of Clinical Endocrinology And Metabolism

Voss, Rachel K RK; Feng, Lei L; Lee, Jeffrey E JE; Perrier, Nancy D ND; Graham, Paul H PH; Hyde, Samuel M SM; Nieves-Munoz, Frances F; Cabanillas, Maria E ME; Waguespack, Steven G SG; Cote, Gilbert J GJ; Gagel, Robert F RF; Grubbs, Elizabeth G EG

Publication Date: 2017-08-01

Variant appearance in text: RET: R912P

PubMed Link: 28609830

Variant Present in the following documents:

• Main text

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: RET: R912P

PubMed Link: 28589087

Variant Present in the following documents:

• Main text

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: 2735G>C; Arg912Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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One reporter for in-cell activity profiling of majority of protein kinase oncogenes.

Elife

Gudernova, Iva I; Foldynova-Trantirkova, Silvie S; Ghannamova, Barbora El BE; Fafilek, Bohumil B; Varecha, Miroslav M; Balek, Lukas L; Hruba, Eva E; Jonatova, Lucie L; Jelinkova, Iva I; Kunova Bosakova, Michaela M; Trantirek, Lukas L; Mayer, Jiri J; Krejci, Pavel P

Publication Date: 2017-02-15

Variant appearance in text: RET: R912P

PubMed Link: 28199182

Variant Present in the following documents:

• elife-21536-supp3.xlsx, sheet 1
• elife-21536-supp3.xlsx, sheet 2

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: R912P

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: R912P

PubMed Link: 27014708

Variant Present in the following documents:

• Main text
• nihms764981.pdf

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: RET: R912P

PubMed Link: 25810047

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R912P

PubMed Link: 25425582

Variant Present in the following documents:

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

View BVdb publication page

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Familial multinodular goiter syndrome with papillary thyroid carcinomas: mutational analysis of the associated genes in 5 cases from 1 Chinese family.

Bmc Endocrine Disorders

Liao, Shunyao S; Song, Wenzhong W; Liu, Yunqiang Y; Deng, Shaoping S; Liang, Yaming Y; Tang, Zhenlin Z; Huang, Jiyuan J; Dong, Dandan D; Xu, Gang G

Publication Date: 2013-10-21

Variant appearance in text: RET: R912P; rs78347871

PubMed Link: 24144365

Variant Present in the following documents:

• Main text
• 1472-6823-13-48.pdf

View BVdb publication page

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An introduction to managing medullary thyroid cancer.

Hereditary Cancer In Clinical Practice

de Groot, Jan Willem JW; Links, Thera P TP; Hofstra, Robert Mw RM; Plukker, John Tm JT

Publication Date: 2006-07-15

Variant appearance in text: RET: R912P

PubMed Link: 20223015

Variant Present in the following documents:

• 1897-4287-4-3-115.pdf

View BVdb publication page

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Rapid diagnosis of MEN2B using unlabeled probe melting analysis and the LightCycler 480 instrument.

The Journal Of Molecular Diagnostics : Jmd

Margraf, Rebecca L RL; Mao, Rong R; Wittwer, Carl T CT

Publication Date: 2008-03

Variant appearance in text: RET: 2735G>C

PubMed Link: 18258924

Variant Present in the following documents:

• Main text

View BVdb publication page

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