Publications:

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Simultaneous bilateral laparoscopic cortical-sparing adrenalectomy for bilateral pheochromocytomas in multiple endocrine neoplasia type 2.

Frontiers In Surgery

Qi, Xiao-Ping XP; Lian, Bi-Jun BJ; Fang, Xu-Dong XD; Dong, Fang F; Li, Feng F; Jin, Hang-Yang HY; Zhang, Ke K; Wang, Kang-Er KE; Zhang, Yi Y

Publication Date: 2022

Variant appearance in text: RET: C634F

PubMed Link: 36704524

Variant Present in the following documents:

• Main text
• fsurg-09-1057821.pdf

View BVdb publication page

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Integrated proteogenomic characterization of medullary thyroid carcinoma.

Cell Discovery

Shi, Xiao X; Sun, Yaoting Y; Shen, Cenkai C; Zhang, Yan Y; Shi, Rongliang R; Zhang, Fan F; Liao, Tian T; Lv, Guojun G; Zhu, Zhengcai Z; Jiao, Lianghe L; Li, Peng P; Xu, Tiansheng T; Qu, Ning N; Huang, Naisi N; Hu, Jiaqian J; Zhang, Tingting T; Gu, Yanzi Y; Qin, Guangqi G; Guan, Haixia H; Pu, Weilin W; Li, Yuan Y; Geng, Xiang X; Zhang, Yan Y; Chen, Tongzhen T; Huang, Shenglin S; Zhang, Zhikang Z; Ge, Shuting S; Wang, Wu W; Xu, Weibo W; Yu, Pengcheng P; Lu, Zhongwu Z; Wang, Yulong Y; Guo, Liang L; Wang, Yu Y; Guo, Tiannan T; Ji, Qinghai Q; Wei, Wenjun W

Publication Date: 2022-11-08

Variant appearance in text: RET: C634F; rs75996173

PubMed Link: 36344509

Variant Present in the following documents:

• 41421_2022_479_MOESM2_ESM.xlsx, sheet 1
• 41421_2022_479_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Unexpected structures formed by the kinase RET C634R mutant extracellular domain suggest potential oncogenic mechanisms in MEN2A.

The Journal Of Biological Chemistry

Liu, Yixin Y; De Castro Ribeiro, Orquidea O; Haapanen, Outi O; Craven, Gregory B GB; Sharma, Vivek V; Muench, Stephen P SP; Goldman, Adrian A

Publication Date: 2022-10

Variant appearance in text: MEN2A: C634F

PubMed Link: 35985422

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology

Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 35966080

Variant Present in the following documents:

View BVdb publication page

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Medullary Thyroid Carcinoma and Associated Endocrinopathies in Slovenia from 1995 to 2021.

Life (Basel, Switzerland)

Milicevic, Sara S; Krajc, Mateja M; Blatnik, Ana A; Peric, Barbara B

Publication Date: 2022-07-21

Variant appearance in text: RET: C634F

PubMed Link: 35888179

Variant Present in the following documents:

• life-12-01091.pdf

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: RET: C634F; rs75996173

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Management of medullary carcinoma of the thyroid: a review.

The Journal Of International Medical Research

Jayasinghe, Ravindri R; Basnayake, Oshan O; Jayarajah, Umesh U; Seneviratne, Sanjeewa S

Publication Date: 2022-07

Variant appearance in text: RET: C634F

PubMed Link: 35822284

Variant Present in the following documents:

• Main text
• 10.1177_03000605221110698.pdf

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: Cys634Phe

PubMed Link: 35237400

Variant Present in the following documents:

• Main text
• 10.1177_20406223221079246.pdf

View BVdb publication page

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Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2).

The Korean Journal Of Internal Medicine

Lee, Ji-Young JY; Kim, Su Yeon SY; Jo, Kwan Hoon KH; Mo, Eun Yeong EY; Kim, Eun Sook ES; Kim, Hye Soo HS; Han, Je Ho JH; Moon, Sung-Dae SD

Publication Date: 2022-03

Variant appearance in text: RET: Cys634Phe

PubMed Link: 34905813

Variant Present in the following documents:

• Main text
• kjim-2021-311.pdf

View BVdb publication page

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Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A.

Frontiers In Endocrinology

Matano, Fumihiro F; Murai, Yasuo Y; Watanabe, Atsushi A; Shirokane, Kazutaka K; Igarashi, Takehito T; Shimizu, Kazuo K; Shimada, Takashi T; Morita, Akio A

Publication Date: 2021

Variant appearance in text: MEN2A: Cys634Phe

PubMed Link: 34858321

Variant Present in the following documents:

• Main text
• fendo-12-703410.pdf

View BVdb publication page

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RET Proto-Oncogene Mutational Analysis in 45 Iranian Patients Affected with Medullary Thyroid Carcinoma: Report of a New Variant.

Journal Of Thyroid Research

Damavandi, Elia E; Vand-Rajabpour, Fatemeh F; Javadi-Arjmand, Maliheh M; Mohajeri Tehrani, Mohammad-Reza MR; Larijani, Bagher B; Kabuli, Majid M; Ghadami, Mohsen M

Publication Date: 2021

Variant appearance in text: RET: 1901G>T

PubMed Link: 34777782

Variant Present in the following documents:

• JTR2021-7250870.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: C634F

PubMed Link: 34771717

Variant Present in the following documents:

• Main text

View BVdb publication page

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Medullary Thyroid Cancer - Feature Review and Update on Systemic Treatment.

Acta Clinica Croatica

Dabelić, Nina N; Jukić, Tomislav T; Fröbe, Ana A

Publication Date: 2020-06

Variant appearance in text: RET: C634F

PubMed Link: 34219884

Variant Present in the following documents:

• Main text
• acc-59-s1-50.pdf

View BVdb publication page

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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: C634F

PubMed Link: 34154310

Variant Present in the following documents:

• Main text
• enm-2021-1082.pdf

View BVdb publication page

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Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.

Journal Of Kidney Cancer And Vhl

Yalcintepe, Sinem S; Gurkan, Hakan H; Korkmaz, Fatma Nur FN; Demir, Selma S; Atli, Engin E; Eker, Damla D; Guler, Hazal Sezginer HS; Zhuri, Drenusha D; Atli, Emine Ikbal EI; Salt, Semra Ayturk SA; Sahin, Mustafa M; Guldiken, Sibel S

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 33777662

Variant Present in the following documents:

View BVdb publication page

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Functional impact of a germline RET mutation in alveolar rhabdomyosarcoma.

Cold Spring Harbor Molecular Case Studies

Berlow, Noah E NE; Crawford, Kenneth A KA; Bult, Carol J CJ; Noakes, Christopher C; Sloma, Ido I; Rudzinski, Erin R ER; Keller, Charles C

Publication Date: 2021-06

Variant appearance in text: RET: C634F

PubMed Link: 33722797

Variant Present in the following documents:

• Main text
• MCS006049Ber.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: 1901G>T

PubMed Link: 33167350

Variant Present in the following documents:

• Main text
• cancers-12-03268.pdf

View BVdb publication page

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5P Strategies for Management of Multiple Endocrine Neoplasia Type 2: A Paradigm of Precision Medicine.

Frontiers In Endocrinology

Li, Shu-Yuan SY; Ding, Yi-Qiang YQ; Si, You-Liang YL; Ye, Mu-Jin MJ; Xu, Chen-Ming CM; Qi, Xiao-Ping XP

Publication Date: 2020

Variant appearance in text: MEN2A: C634F

PubMed Link: 33071967

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: rs75996173

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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The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Journal Of Cellular And Molecular Medicine

Yang, Zheng Z; Qi, Xinmeng X; Gross, Neil N; Kou, Xiujuan X; Bai, Yunlong Y; Feng, Yaru Y; Wang, Bochun B; Zafereo, Mark E ME; Li, Guojun G; Sun, Chuanzheng C; Li, Huihui H; Chen, Xiaohong X; Huang, Zhigang Z

Publication Date: 2020-11

Variant appearance in text: RET: C634F

PubMed Link: 32989896

Variant Present in the following documents:

• Main text
• JCMM-24-13163.pdf

View BVdb publication page

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Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma.

Cold Spring Harbor Molecular Case Studies

Crawford, Kenneth A KA; Berlow, Noah E NE; Tsay, Jennifer J; Lazich, Michael M; Mancini, Maria M; Noakes, Christopher C; Huang, Tannie T; Keller, Charles C

Publication Date: 2020-06

Variant appearance in text: RET: 1901G>T; Cys634Phe; rs75996173

PubMed Link: 32532875

Variant Present in the following documents:

• Main text
• supp_mcs.a004853_Supplemental_Table1.xlsx, sheet 1
• MCS004853Cra.pdf

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: C634F

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: C634F

PubMed Link: 32375120

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: C634F

PubMed Link: 31597347

Variant Present in the following documents:

• Main text

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: C634F

PubMed Link: 31510104

Variant Present in the following documents:

• Main text
• genes-10-00698.pdf

View BVdb publication page

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Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.

Jama Network Open

Neumann, Hartmut P H HPH; Tsoy, Uliana U; Bancos, Irina I; Amodru, Vincent V; Walz, Martin K MK; Tirosh, Amit A; Kaur, Ravinder Jeet RJ; McKenzie, Travis T; Qi, Xiaoping X; Bandgar, Tushar T; Petrov, Roman R; Yukina, Marina Y MY; Roslyakova, Anna A; van der Horst-Schrivers, Anouk N A ANA; Berends, Annika M A AMA; Hoff, Ana O AO; Castroneves, Luciana Audi LA; Ferrara, Alfonso Massimiliano AM; Rizzati, Silvia S; Mian, Caterina C; Dvorakova, Sarka S; Hasse-Lazar, Kornelia K; Kvachenyuk, Andrey A; Peczkowska, Mariola M; Loli, Paola P; Erenler, Feyza F; Krauss, Tobias T; Almeida, Madson Q MQ; Liu, Longfei L; Zhu, Feizhou F; Recasens, Mònica M; Wohllk, Nelson N; Corssmit, Eleonora P M EPM; Shafigullina, Zulfiya Z; Calissendorff, Jan J; Grozinsky-Glasberg, Simona S; Kunavisarut, Tada T; Schalin-Jäntti, Camilla C; Castinetti, Frederic F; Vlcek, Petr P; Beltsevich, Dmitry D; Egorov, Viacheslav I VI; Schiavi, Francesca F; Links, Thera P TP; Lechan, Ronald M RM; Bausch, Birke B; Young, William F WF; Eng, Charis C; ,

Publication Date: 2019-08-02

Variant appearance in text: RET: 1901G>T; Cys634Phe

PubMed Link: 31397861

Variant Present in the following documents:

• jamanetwopen-2-e198898-s001.pdf

View BVdb publication page

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Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Cancers

Gieldon, Laura L; William, Doreen D; Hackmann, Karl K; Jahn, Winnie W; Jahn, Arne A; Wagner, Johannes J; Rump, Andreas A; Bechmann, Nicole N; Nölting, Svenja S; Knösel, Thomas T; Gudziol, Volker V; Constantinescu, Georgiana G; Masjkur, Jimmy J; Beuschlein, Felix F; Timmers, Henri Jlm HJ; Canu, Letizia L; Pacak, Karel K; Robledo, Mercedes M; Aust, Daniela D; Schröck, Evelin E; Eisenhofer, Graeme G; Richter, Susan S; Klink, Barbara B

Publication Date: 2019-06-11

Variant appearance in text: RET: 1901G>T; Cys634Phe

PubMed Link: 31212687

Variant Present in the following documents:

• Main text
• cancers-11-00809.pdf

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: C634F

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: C634F

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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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: C634F

PubMed Link: 30446652

Variant Present in the following documents:

• Main text
• 41467_2018_7341_MOESM1_ESM.pdf
• 41467_2018_7341_MOESM6_ESM.xlsx, sheet 1
• 41467_2018_Article_7341.pdf

View BVdb publication page

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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: C634F

PubMed Link: 30321177

Variant Present in the following documents:

• Main text

View BVdb publication page

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The RET C611Y mutation causes MEN 2A and associated cutaneous

Endocrine Connections

Qi, Xiao-Ping XP; Peng, Jian-Zhong JZ; Yang, Xiao-Wei XW; Zao, Zhi-Li ZL; Yu, Xiu-Hua XH; Fang, Xu-Dong XD; Zhang, Da-Hong DH; Zhao, Jian-Qiang JQ

Publication Date: 2018-09-01

Variant appearance in text: RET: C634F

PubMed Link: 30300539

Variant Present in the following documents:

• Main text
• ec-7-998.pdf

View BVdb publication page

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Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine

Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L

Publication Date: 2018-07-27

Variant appearance in text: RET: C634F

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Richter, Susan S; Gieldon, Laura L; Pang, Ying Y; Peitzsch, Mirko M; Huynh, Thanh T; Leton, Rocio R; Viana, Bruna B; Ercolino, Tonino T; Mangelis, Anastasios A; Rapizzi, Elena E; Menschikowski, Mario M; Aust, Daniela D; Kroiss, Matthias M; Beuschlein, Felix F; Gudziol, Volker V; Timmers, Henri Jlm HJ; Lenders, Jacques J; Mannelli, Massimo M; Cascon, Alberto A; Pacak, Karel K; Robledo, Mercedes M; Eisenhofer, Graeme G; Klink, Barbara B

Publication Date: 2019-03

Variant appearance in text: RET: 1901G>T

PubMed Link: 30050099

Variant Present in the following documents:

• NIHMS1505462-supplement-Supplementary_information_3.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: 1901G>T

PubMed Link: 29590403

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.

Journal Of Endocrinological Investigation

Fanis, P P; Skordis, N N; Frangos, S S; Christopoulos, G G; Spanou-Aristidou, E E; Andreou, E E; Manoli, P P; Mavrommatis, M M; Nicolaou, S S; Kleanthous, M M; Cariolou, M A MA; Christophidou-Anastasiadou, V V; Tanteles, G A GA; Phylactou, L A LA; Neocleous, V V

Publication Date: 2018-10

Variant appearance in text: RET: Cys634Phe

PubMed Link: 29396759

Variant Present in the following documents:

• Main text
• 40618_2018_Article_841.pdf

View BVdb publication page

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Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

Journal Of The Endocrine Society

Newey, Paul J PJ; Berg, Jonathan N JN; Zhou, Kaixin K; Palmer, Colin N A CNA; Thakker, Rajesh V RV

Publication Date: 2017-12-01

Variant appearance in text: RET: Cys634Phe

PubMed Link: 29308445

Variant Present in the following documents:

• js-01-12-1507.pdf

View BVdb publication page

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