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: K666E

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: Lys666Glu

PubMed Link: 35237400

Variant Present in the following documents:

• Main text
• 10.1177_20406223221079246.pdf

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Current Guidelines for Management of Medullary Thyroid Carcinoma.

Endocrinology And Metabolism (Seoul, Korea)

Kim, Mijin M; Kim, Bo Hyun BH

Publication Date: 2021-06

Variant appearance in text: RET: K666E

PubMed Link: 34154310

Variant Present in the following documents:

• Main text
• enm-2021-1082.pdf

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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: K666E

PubMed Link: 33572167

Variant Present in the following documents:

• Main text
• ijms-22-01726.pdf

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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: K666E

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: K666E

PubMed Link: 32375120

Variant Present in the following documents:

• Main text

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Oncogenic and drug-sensitive RET mutations in human epithelial ovarian cancer.

Journal Of Experimental & Clinical Cancer Research : Cr

Guan, Luyao L; Li, Zhang Z; Xie, Feifei F; Pang, Yuzhi Y; Zhang, Chenyun C; Tang, Haosha H; Zhang, Hao H; Chen, Chun C; Zhan, Yaying Y; Zhao, Ting T; Jiang, Hongyuan H; Jia, Xiaona X; Wang, Yuexiang Y; Lu, Yuan Y

Publication Date: 2020-03-23

Variant appearance in text: RET: K666E

PubMed Link: 32293499

Variant Present in the following documents:

• 13046_2020_Article_1557.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: RET: 1996A>G; K666E; rs143795581

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: RET: K666E; rs143795581

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 7
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s004.xlsx, sheet 6

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Current Management of Pheochromocytoma/Paraganglioma: A Guide for the Practicing Clinician in the Era of Precision Medicine.

Cancers

Nölting, Svenja S; Ullrich, Martin M; Pietzsch, Jens J; Ziegler, Christian G CG; Eisenhofer, Graeme G; Grossman, Ashley A; Pacak, Karel K

Publication Date: 2019-10-08

Variant appearance in text: RET: K666E

PubMed Link: 31597347

Variant Present in the following documents:

• Main text
• cancers-11-01505.pdf

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: RET: K666E; rs143795581

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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RET rearrangements are actionable alterations in breast cancer.

Nature Communications

Paratala, Bhavna S BS; Chung, Jon H JH; Williams, Casey B CB; Yilmazel, Bahar B; Petrosky, Whitney W; Williams, Kirstin K; Schrock, Alexa B AB; Gay, Laurie M LM; Lee, Ellen E; Dolfi, Sonia C SC; Pham, Kien K; Lin, Stephanie S; Yao, Ming M; Kulkarni, Atul A; DiClemente, Frances F; Liu, Chen C; Rodriguez-Rodriguez, Lorna L; Ganesan, Shridar S; Ross, Jeffrey S JS; Ali, Siraj M SM; Leyland-Jones, Brian B; Hirshfield, Kim M KM

Publication Date: 2018-11-16

Variant appearance in text: RET: K666E

PubMed Link: 30446652

Variant Present in the following documents:

• 41467_2018_Article_7341.pdf

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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: Lys666Glu

PubMed Link: 30013307

Variant Present in the following documents:

• Main text
• 10.1177_1177271918785129.pdf

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Association of medullary sponge kidney and hyperparathyroidism with RET G691S/S904S polymorphism: a case report.

Journal Of Medical Case Reports

Janjua, Muhammad Usman MU; Long, Xiao-Dan XD; Mo, Zhao-Hui ZH; Dong, Chang-Sheng CS; Jin, Ping P

Publication Date: 2018-07-09

Variant appearance in text: RET: K666E

PubMed Link: 29983117

Variant Present in the following documents:

• 13256_2018_Article_1736.pdf

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: K666E

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

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: K666E

PubMed Link: 29142004

Variant Present in the following documents:

• Main text

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: K666E

PubMed Link: 28740527

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: K666E

PubMed Link: 28589087

Variant Present in the following documents:

• Main text

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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: 1996A>G; Lys666Glu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.

Clinical Medicine Insights. Endocrinology And Diabetes

Sriphrapradang, Chutintorn C; Choopun, Kitjapong K; Tunteeratum, Atchara A; Sura, Thanyachai T

Publication Date: 2017

Variant appearance in text: RET: K666E

PubMed Link: 28469506

Variant Present in the following documents:

• 10.1177_1179551417705122.pdf

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: K666E

PubMed Link: 27809725

Variant Present in the following documents:

• Main text
• thy.2016.0411.pdf

View BVdb publication page

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Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation.

Thyroid : Official Journal Of The American Thyroid Association

Xu, Jian Yu JY; Grubbs, Elizabeth G EG; Waguespack, Steven G SG; Jimenez, Camilo C; Gagel, Robert F RF; Sosa, Julie A JA; Sellin, Rena V RV; Dadu, Ramona R; Hu, Mimi I MI; Trotter, Chardria S CS; Jackson, Michelle M; Rich, Thereasa A TA; Hyde, Samuel M SM; Sherman, Steven I SI; Cote, Gilbert J GJ

Publication Date: 2016-12

Variant appearance in text: RET: K666E

PubMed Link: 27673361

Variant Present in the following documents:

• Main text

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: K666E

PubMed Link: 27014708

Variant Present in the following documents:

• Main text
• nihms764981.pdf

View BVdb publication page

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Constructing a molecular interaction network for thyroid cancer via large-scale text mining of gene and pathway events.

Bmc Systems Biology

Wu, Chengkun C; Schwartz, Jean-Marc JM; Brabant, Georg G; Peng, Shao-Liang SL; Nenadic, Goran G

Publication Date: 2015

Variant appearance in text: RET: K666E

PubMed Link: 26679379

Variant Present in the following documents:

• Main text

View BVdb publication page

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The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studies.

Orphanet Journal Of Rare Diseases

Colombo, Carla C; Minna, Emanuela E; Rizzetti, Maria Grazia MG; Romeo, Paola P; Lecis, Daniele D; Persani, Luca L; Mondellini, Piera P; Pierotti, Marco A MA; Greco, Angela A; Fugazzola, Laura L; Borrello, Maria Grazia MG

Publication Date: 2015-03-01

Variant appearance in text: RET: K666E

PubMed Link: 25887804

Variant Present in the following documents:

• Main text
• 13023_2015_Article_231.pdf

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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: K666E

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: K666E

PubMed Link: 25425582

Variant Present in the following documents:

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

View BVdb publication page

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: RET: 1996A>G; Lys666Glu

PubMed Link: 23820649

Variant Present in the following documents:

• Main text
• 439_2013_Article_1331.pdf

View BVdb publication page

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Multiple endocrine neoplasia type 2: achievements and current challenges.

Clinics (Sao Paulo, Brazil)

Machens, Andreas A; Dralle, Henning H

Publication Date: 2012

Variant appearance in text: RET: K666E

PubMed Link: 22584715

Variant Present in the following documents:

• cln-67-s1-113.pdf

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Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.

The Journal Of Molecular Diagnostics : Jmd

Ahmed, Syed A SA; Snow-Bailey, Karen K; Highsmith, W Edward WE; Sun, Weimin W; Fenwick, Raymond G RG; Mao, Rong R

Publication Date: 2005-05

Variant appearance in text: MEN2A: K666E

PubMed Link: 15858153

Variant Present in the following documents:

• Main text

View BVdb publication page

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