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: C611F

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: Cys611Phe

PubMed Link: 35237400

Variant Present in the following documents:

• Main text
• 10.1177_20406223221079246.pdf

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Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Cancers

Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P

Publication Date: 2022-01-06

Variant appearance in text: rs377767397

PubMed Link: 35053433

Variant Present in the following documents:

• cancers-14-00269.pdf

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Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Cancers

Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P

Publication Date: 2022-01-06

Variant appearance in text: rs377767397

PubMed Link: 35053433

Variant Present in the following documents:

• cancers-14-00269.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: C611F

PubMed Link: 34154310

Variant Present in the following documents:

• Main text
• enm-2021-1082.pdf

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Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.

Bmc Cancer

Qi, Xiao-Ping XP; Zhao, Jian-Qiang JQ; Fang, Xu-Dong XD; Lian, Bi-Jun BJ; Li, Feng F; Wang, Hui-Hong HH; Cao, Zhi-Lie ZL; Zheng, Wei-Hui WH; Cao, Juan J; Chen, Yu Y

Publication Date: 2021-04-07

Variant appearance in text: RET: C611F

PubMed Link: 33827484

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8116.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: C611F

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: C611F

PubMed Link: 32375120

Variant Present in the following documents:

• Main text
• EC-20-0163.pdf

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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: C611F

PubMed Link: 31597347

Variant Present in the following documents:

• Main text
• cancers-11-01505.pdf

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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: C611F

PubMed Link: 30624503

Variant Present in the following documents:

• 2359-4292-aem-62-06-0623.pdf

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A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency.

Plos Genetics

Pecce, Valeria V; Sponziello, Marialuisa M; Damante, Giuseppe G; Rosignolo, Francesca F; Durante, Cosimo C; Lamartina, Livia L; Grani, Giorgio G; Russo, Diego D; di Gioia, Cira Rosaria CR; Filetti, Sebastiano S; Verrienti, Antonella A

Publication Date: 2018-10

Variant appearance in text: RET: Cys611Phe

PubMed Link: 30321177

Variant Present in the following documents:

• Main text
• pgen.1007678.pdf

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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: C611F

PubMed Link: 29142004

Variant Present in the following documents:

• Main text

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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: C611F

PubMed Link: 28609830

Variant Present in the following documents:

• Main text

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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: C611F

PubMed Link: 28589087

Variant Present in the following documents:

• Main text

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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: C611F

PubMed Link: 25810047

Variant Present in the following documents:

• Main text

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Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update.

The Journal Of Clinical Endocrinology And Metabolism

Wells, Samuel A SA; Pacini, Furio F; Robinson, Bruce G BG; Santoro, Massimo M

Publication Date: 2013-08

Variant appearance in text: RET: C611F

PubMed Link: 23744408

Variant Present in the following documents:

• Main text

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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: C611F

PubMed Link: 22584715

Variant Present in the following documents:

• Main text
• cln-67-s1-113.pdf

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Factors predicting outcome of total thyroidectomy in young patients with multiple endocrine neoplasia type 2: a nationwide long-term follow-up study.

World Journal Of Surgery

Schreinemakers, Jennifer M J JM; Vriens, Menno R MR; Valk, Gerlof D GD; de Groot, Jan-Willem B JW; Plukker, John T JT; Bax, Klaas M A K; Hamming, Jaap F JF; van der Luijt, Rob B RB; Aronson, Daniel C DC; Borel Rinkes, Inne H M IH

Publication Date: 2010-04

Variant appearance in text: RET: Cys611Phe

PubMed Link: 20063095

Variant Present in the following documents:

• 268_2009_Article_370.pdf

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RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

The Journal Of Molecular Diagnostics : Jmd

Margraf, Rebecca L RL; Mao, Rong R; Highsmith, W Edward WE; Holtegaard, Leonard M LM; Wittwer, Carl T CT

Publication Date: 2007-04

Variant appearance in text: RET: C611F

PubMed Link: 17384210

Variant Present in the following documents:

• Main text

View BVdb publication page

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