Publications:

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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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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: MEN2A: 1852T>A

PubMed Link: 33827484

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8116.pdf

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: C618S

PubMed Link: 33572167

Variant Present in the following documents:

• Main text
• ijms-22-01726.pdf

View BVdb publication page

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Understanding protein structural changes for oncogenic missense variants.

Heliyon

Hernandez, Rolando R; Facelli, Julio C JC

Publication Date: 2021-01

Variant appearance in text: RET: Cys618Ser

PubMed Link: 33553733

Variant Present in the following documents:

• Main text

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: RET: C618S

PubMed Link: 33071967

Variant Present in the following documents:

• fendo-11-543246.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: rs76262710

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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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: RET: Cys618Ser

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM11_ESM.xlsx, sheet 1

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: MEN2A: C618S

PubMed Link: 31510104

Variant Present in the following documents:

• Main text
• genes-10-00698.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: RET: 1852T>A; C618S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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: 1852T>A; Cys618Ser

PubMed Link: 31397861

Variant Present in the following documents:

• jamanetwopen-2-e198898-s001.pdf

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: 1852T>A; Cys618Ser

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Novel Prognostic Factors Associated with Cell Cycle Control in Sporadic Medullary Thyroid Cancer Patients.

International Journal Of Endocrinology

Pezzani, Raffaele R; Bertazza, Loris L; Cavedon, Elisabetta E; Censi, Simona S; Manso, Jacopo J; Watutantrige-Fernando, Sara S; Pennelli, Gianmaria G; Galuppini, Francesca F; Barollo, Susi S; Mian, Caterina C

Publication Date: 2019

Variant appearance in text: RET: C618S

PubMed Link: 30911297

Variant Present in the following documents:

• Main text
• IJE2019-9421079.pdf

View BVdb publication page

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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports

John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA

Publication Date: 2018-11-08

Variant appearance in text: rs76262710

PubMed Link: 30409984

Variant Present in the following documents:

• 41598_2018_Article_34815.pdf

View BVdb publication page

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The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Hormone And Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme

Xekouki, Paraskevi P; Brennand, Ana A; Whitelaw, Ben B; Pacak, Karel K; Stratakis, Constantine A CA

Publication Date: 2019-07

Variant appearance in text: RET: Cys618Ser

PubMed Link: 30273935

Variant Present in the following documents:

• Main text

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: C618S

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: MEN2A: Cys618Ser

PubMed Link: 29396759

Variant Present in the following documents:

• Main text
• 40618_2018_Article_841.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: rs76262710

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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Is new American Thyroid Association risk classification for hereditary medullary thyroid carcinoma applicable to Chinese patients? A single-center study.

Chinese Journal Of Cancer Research = Chung-Kuo Yen Cheng Yen Chiu

Zhang, Xiwei X; Yan, Dangui D; Wang, Junyi J; Wan, Hanfeng H; Zhang, Yongxia Y; Zhang, Yabing Y; He, Yuqin Y; Liu, Wensheng W; Zhang, Bin B

Publication Date: 2017-06

Variant appearance in text: N/A

PubMed Link: 28729773

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: 1852T>A; Cys618Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations.

Scientific Reports

Oczko-Wojciechowska, Malgorzata M; Swierniak, Michal M; Krajewska, Jolanta J; Kowalska, Malgorzata M; Kowal, Monika M; Stokowy, Tomasz T; Wojtas, Bartosz B; Rusinek, Dagmara D; Pawlaczek, Agnieszka A; Czarniecka, Agnieszka A; Szpak-Ulczok, Sylwia S; Gawlik, Tomasz T; Chmielik, Ewa E; Tyszkiewicz, Tomasz T; Nikiel, Barbara B; Lange, Dariusz D; Jarzab, Michal M; Wiench, Malgorzata M; Jarzab, Barbara B

Publication Date: 2017-02-09

Variant appearance in text: MEN2A: C618S

PubMed Link: 28181547

Variant Present in the following documents:

• srep42074-s1.pdf

View BVdb publication page

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ATF4 Targets RET for Degradation and Is a Candidate Tumor Suppressor Gene in Medullary Thyroid Cancer.

The Journal Of Clinical Endocrinology And Metabolism

Bagheri-Yarmand, Rozita R; Williams, Michelle D MD; Grubbs, Elizabeth G EG; Gagel, Robert F RF

Publication Date: 2017-03-01

Variant appearance in text: N/A

PubMed Link: 27935748

Variant Present in the following documents:

View BVdb publication page

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Detection and Prognostic Significance of Circulating Tumor Cells in Patients With Metastatic Thyroid Cancer.

The Journal Of Clinical Endocrinology And Metabolism

Xu, Jian Yu JY; Handy, Beverly B; Michaelis, Christina L CL; Waguespack, Steven G SG; Hu, Mimi I MI; Busaidy, Naifa N; Jimenez, Camilo C; Cabanillas, Maria E ME; Fritsche, Herbert A HA; Cote, Gilbert J GJ; Sherman, Steven I SI

Publication Date: 2016-11

Variant appearance in text: N/A

PubMed Link: 27575943

Variant Present in the following documents:

View BVdb publication page

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Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma.

Oncology

Heilmann, Andreas M AM; Subbiah, Vivek V; Wang, Kai K; Sun, James X JX; Elvin, Julia A JA; Chmielecki, Juliann J; Sherman, Steven I SI; Murthy, Ravi R; Busaidy, Naifa L NL; Subbiah, Ishwaria I; Yelensky, Roman R; Nangia, Chaitali C; Vergilio, Jo-Anne JA; Khan, Saad A SA; Erlich, Rachel L RL; Lipson, Doron D; Ross, Jeffrey S JS; Miller, Vincent A VA; Shah, Manisha H MH; Ali, Siraj M SM; Stephens, Philip J PJ

Publication Date: 2016

Variant appearance in text: N/A

PubMed Link: 27207748

Variant Present in the following documents:

View BVdb publication page

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Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey.

Journal Of Clinical Research In Pediatric Endocrinology

Aydoğan, Berna İmge Bİ; Yüksel, Bağdagül B; Tuna, Mazhar Müslüm MM; Navdar Başaran, Mehtap M; Akkurt Kocaeli, Ayşen A; Ertörer, Melek Eda ME; Aydın, Kadriye K; Güldiken, Sibel S; Şimşek, Yasin Y; Cihan Karaca, Züleyha Z; Yılmaz, Merve M; Aktürk, Müjde M; Anaforoğlu, İnan İ; Kebapçı, Nur N; Duran, Cevdet C; Taşlıpınar, Abdullah A; Kulaksızoğlu, Mustafa M; Gürsoy, Alptekin A; Dağdelen, Selçuk S; Erdoğan, Murat Faik MF

Publication Date: 2016-03-05

Variant appearance in text: RET: Cys618Ser

PubMed Link: 26758973

Variant Present in the following documents:

• Main text
• JCRPE-8-13.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: MEN2A: C618S; rs76262710

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Identification of Driving ALK Fusion Genes and Genomic Landscape of Medullary Thyroid Cancer.

Plos Genetics

Ji, Jun Ho JH; Oh, Young Lyun YL; Hong, Mineui M; Yun, Jae Won JW; Lee, Hyun-Woo HW; Kim, DeokGeun D; Ji, Yongick Y; Kim, Duk-Hwan DH; Park, Woong-Yang WY; Shin, Hyun-Tae HT; Kim, Kyoung-Mee KM; Ahn, Myung-Ju MJ; Park, Keunchil K; Sun, Jong-Mu JM

Publication Date: 2015-08

Variant appearance in text: RET: C618S

PubMed Link: 26295973

Variant Present in the following documents:

• Main text
• pgen.1005467.s002.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: RET: C618S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Differential expression of cell cycle regulators in CDK5-dependent medullary thyroid carcinoma tumorigenesis.

Oncotarget

Pozo, Karine K; Hillmann, Antje A; Augustyn, Alexander A; Plattner, Florian F; Hai, Tao T; Singh, Tanvir T; Ramezani, Saleh S; Sun, Xiankai X; Pfragner, Roswitha R; Minna, John D JD; Cote, Gilbert J GJ; Chen, Herbert H; Bibb, James A JA; Nwariaku, Fiemu E FE

Publication Date: 2015-05-20

Variant appearance in text: RET: C618S

PubMed Link: 25900242

Variant Present in the following documents:

• Main text
• oncotarget-06-12080.pdf

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: C618S

PubMed Link: 25425582

Variant Present in the following documents:

• supp_ERC-14-0491_Supplementary_table_4.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: C618S; rs76262710

PubMed Link: 24144365

Variant Present in the following documents:

• Main text
• 1472-6823-13-48.pdf

View BVdb publication page

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Overexpression of miR-10a and miR-375 and downregulation of YAP1 in medullary thyroid carcinoma.

Experimental And Molecular Pathology

Hudson, Jena J; Duncavage, Eric E; Tamburrino, Anna A; Salerno, Paolo P; Xi, Liqiang L; Raffeld, Mark M; Moley, Jeffrey J; Chernock, Rebecca D RD

Publication Date: 2013-08

Variant appearance in text: N/A

PubMed Link: 23685355

Variant Present in the following documents:

View BVdb publication page

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RET codon 618 mutations in Saudi families with multiple endocrine neoplasia Type 2A and familial medullary thyroid carcinoma.

Annals Of Saudi Medicine

Qari, Faiza F

Publication Date: 2013

Variant appearance in text: N/A

PubMed Link: 23563004

Variant Present in the following documents:

View BVdb publication page

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Somatic RAS mutations occur in a large proportion of sporadic RET-negative medullary thyroid carcinomas and extend to a previously unidentified exon.

The Journal Of Clinical Endocrinology And Metabolism

Boichard, A A; Croux, L L; Al Ghuzlan, A A; Broutin, S S; Dupuy, C C; Leboulleux, S S; Schlumberger, M M; Bidart, J M JM; Lacroix, L L

Publication Date: 2012-10

Variant appearance in text: N/A

PubMed Link: 22865907

Variant Present in the following documents:

View BVdb publication page

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MicroRNA profiles in familial and sporadic medullary thyroid carcinoma: preliminary relationships with RET status and outcome.

Thyroid : Official Journal Of The American Thyroid Association

Mian, Caterina C; Pennelli, Gianmaria G; Fassan, Matteo M; Balistreri, Mariangela M; Barollo, Susi S; Cavedon, Elisabetta E; Galuppini, Francesca F; Pizzi, Marco M; Vianello, Federica F; Pelizzo, Maria Rosa MR; Girelli, Maria Elisa ME; Rugge, Massimo M; Opocher, Giuseppe G

Publication Date: 2012-09

Variant appearance in text: N/A

PubMed Link: 22747440

Variant Present in the following documents:

View BVdb publication page

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Sprouty1 is a candidate tumor-suppressor gene in medullary thyroid carcinoma.

Oncogene

Macià, A A; Gallel, P P; Vaquero, M M; Gou-Fabregas, M M; Santacana, M M; Maliszewska, A A; Robledo, M M; Gardiner, J R JR; Basson, M A MA; Matias-Guiu, X X; Encinas, M M

Publication Date: 2012-08-30

Variant appearance in text: RET: C618S

PubMed Link: 22158037

Variant Present in the following documents:

• NIHMS37120-supplement-4.xls, sheet 1

View BVdb publication page

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Multiple endocrine neoplasia 2a presenting with pheochromocytoma and pituitary macroadenoma.

Isrn Oncology

Heinlen, Jonathan E JE; Buethe, David D DD; Culkin, Daniel J DJ; Slobodov, Gennady G

Publication Date: 2011

Variant appearance in text: RET: C618S

PubMed Link: 22091429

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.

Journal Of Thyroid Research

Hedayati, Mehdi M; Zarif Yeganeh, Marjan M; Sheikhol Eslami, Sara S; Rezghi Barez, Shekoofe S; Hoghooghi Rad, Laleh L; Azizi, Fereidoun F

Publication Date: 2011

Variant appearance in text: RET: C618S

PubMed Link: 21765987

Variant Present in the following documents:

• Main text
• JTR2011-264248.pdf

View BVdb publication page

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Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Journal Of Biomolecular Techniques : Jbt

Margraf, Rebecca L RL; Durtschi, Jacob D JD; Dames, Shale S; Pattison, David C DC; Stephens, Jack E JE; Voelkerding, Karl V KV

Publication Date: 2011-07

Variant appearance in text: RET: 1852T>A; C618S

PubMed Link: 21738440

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development.

Journal Of Biomolecular Techniques : Jbt

Margraf, Rebecca L RL; Durtschi, Jacob D JD; Dames, Shale S; Pattison, David C DC; Stephens, Jack E JE; Mao, Rong R; Voelkerding, Karl V KV

Publication Date: 2010-09

Variant appearance in text: RET: 1852T>A; C618S

PubMed Link: 20808642

Variant Present in the following documents:

• Main text

View BVdb publication page

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Vandetanib (100 mg) in patients with locally advanced or metastatic hereditary medullary thyroid cancer.

The Journal Of Clinical Endocrinology And Metabolism

Robinson, Bruce G BG; Paz-Ares, Luis L; Krebs, Annetta A; Vasselli, James J; Haddad, Robert R

Publication Date: 2010-06

Variant appearance in text: N/A

PubMed Link: 20371662

Variant Present in the following documents:

View BVdb publication page

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A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation.

Journal Of Korean Medical Science

Jung, Jinhyang J; Uchino, Shinya S; Lee, Youngha Y; Park, Hoyong H

Publication Date: 2010-02

Variant appearance in text: RET: C618S

PubMed Link: 20119574

Variant Present in the following documents:

• Main text
• jkms-25-226.pdf

View BVdb publication page

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Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Wells, Samuel A SA; Gosnell, Jessica E JE; Gagel, Robert F RF; Moley, Jeffrey J; Pfister, David D; Sosa, Julie A JA; Skinner, Michael M; Krebs, Annetta A; Vasselli, James J; Schlumberger, Martin M

Publication Date: 2010-02-10

Variant appearance in text: N/A

PubMed Link: 20065189

Variant Present in the following documents:

View BVdb publication page

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Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.

The Journal Of Molecular Diagnostics : Jmd

Barker, Shannon D SD; Bale, Sherri S; Booker, Jessica J; Buller, Arlene A; Das, Soma S; Friedman, Kenneth K; Godwin, Andrew K AK; Grody, Wayne W WW; Highsmith, Edward E; Kant, Jeffery A JA; Lyon, Elaine E; Mao, Rong R; Monaghan, Kristin G KG; Payne, Deborah A DA; Pratt, Victoria M VM; Schrijver, Iris I; Shrimpton, Antony E AE; Spector, Elaine E; Telatar, Milhan M; Toji, Lorraine L; Weck, Karen K; Zehnbauer, Barbara B; Kalman, Lisa V LV

Publication Date: 2009-11

Variant appearance in text: N/A

PubMed Link: 19767587

Variant Present in the following documents:

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: RET: C618S

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2
• gkn1008_nar-01723-s-2008-File011.xls, sheet 2

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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: N/A

PubMed Link: 17384210

Variant Present in the following documents:

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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: N/A

PubMed Link: 15858153

Variant Present in the following documents:

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