RET c.1900T>G ;(p.C634G)

Variant ID: 10-43609948-T-G

NM_020975.4(RET):c.1900T>G;(p.C634G)

This variant was identified in 49 publications

View GRCh38 version.




Publications:


A Familial Case of Multiple Endocrine Neoplasia 2A: From Morphology to Genetic Alterations Penetration in Three Generations of a Family.

Diagnostics (Basel, Switzerland)
Chen, Lan L; Zhang, Jing-Xin JX; Liu, Dong-Ge DG; Liu, Hong-Gang HG
Publication Date: 2023-03-02

Variant appearance in text: RET: C634G
PubMed Link: 36900098
Variant Present in the following documents:
  • Main text
  • diagnostics-13-00955.pdf
View BVdb publication page



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: C634G
PubMed Link: 36704524
Variant Present in the following documents:
  • Main text
  • fsurg-09-1057821.pdf
View BVdb publication page



Horner's Syndrome and Lymphocele Following Thyroid Surgery.

Journal Of Clinical Medicine
Carsote, Mara M; Nistor, Claudiu-Eduard CE; Popa, Florina Ligia FL; Stanciu, Mihaela M
Publication Date: 2023-01-06

Variant appearance in text: RET: Cys634Gly
PubMed Link: 36675400
Variant Present in the following documents:
  • Main text
  • jcm-12-00474.pdf
View BVdb publication page



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: C634G
PubMed Link: 36344509
Variant Present in the following documents:
  • 41421_2022_479_MOESM4_ESM.xlsx, sheet 3
  • 41421_2022_479_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



RET signaling pathway and RET inhibitors in human cancer.

Frontiers In Oncology
Regua, Angelina T AT; Najjar, Mariana M; Lo, Hui-Wen HW
Publication Date: 2022

Variant appearance in text: RET: Cys634gly
PubMed Link: 35957881
Variant Present in the following documents:
  • fonc-12-932353.pdf
View BVdb publication page



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: 1900T>G
PubMed Link: 35888179
Variant Present in the following documents:
  • Main text
  • life-12-01091.pdf
View BVdb publication page



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: C634G; rs75076352
PubMed Link: 35865963
Variant Present in the following documents:
  • Table12.xlsx, sheet 1
View BVdb publication page



RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas.

Genes
Zhao, Lin L; Yang, Kun-Qi KQ; Fan, Peng P; Gong, Ding-Xu DX; Zhang, Lin L; Lu, Yi-Ting YT; Meng, Xu X; Zhou, Xian-Liang XL
Publication Date: 2022-05-12

Variant appearance in text: RET: Cys634Gly
PubMed Link: 35627249
Variant Present in the following documents:
  • Main text
  • genes-13-00864.pdf
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: RET: 1900T>G; Cys634Gly
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Diagnostic characteristics, treatment patterns, and clinical outcomes for patients with advanced/metastatic medullary thyroid cancer.

Thyroid Research
Parikh, Rohan R; Hess, Lisa M LM; Esterberg, Elizabeth E; Bhandari, Naleen Raj NR; Kaye, James A JA
Publication Date: 2022-02-12

Variant appearance in text: RET: C634G
PubMed Link: 35151352
Variant Present in the following documents:
  • Main text
  • 13044_2021_Article_119.pdf
View BVdb publication page



Diagnostic characteristics, treatment patterns, and clinical outcomes for patients with advanced/metastatic medullary thyroid cancer.

Thyroid Research
Parikh, Rohan R; Hess, Lisa M LM; Esterberg, Elizabeth E; Bhandari, Naleen Raj NR; Kaye, James A JA
Publication Date: 2022-02-12

Variant appearance in text: RET: C634G
PubMed Link: 35151352
Variant Present in the following documents:
  • Main text
  • 13044_2021_Article_119.pdf
View BVdb publication page



Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency.

Croatian Medical Journal
Milićević, Sara S; Bergant, Damijan D; Žagar, Tina T; Perić, Barbara B
Publication Date: 2021-04-30

Variant appearance in text: RET: C634G
PubMed Link: 33938650
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: RET: C634G; rs75076352
PubMed Link: 33777662
Variant Present in the following documents:
  • Main text
  • JKCVHL-8-019.pdf
View BVdb publication page



Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study.

Frontiers In Endocrinology
Ma, Xiaosen X; Li, Ming M; Tong, Anli A; Wang, Fen F; Cui, Yunying Y; Zhang, Xuebin X; Zhang, Yushi Y; Chen, Shi S; Li, Yuxiu Y
Publication Date: 2020

Variant appearance in text: RET: 1900T>G; C634G
PubMed Link: 33362715
Variant Present in the following documents:
  • Main text
  • fendo-11-574662.pdf
View BVdb publication page



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: C634G
PubMed Link: 33071967
Variant Present in the following documents:
  • Main text
  • fendo-11-543246.pdf
View BVdb publication page



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: rs75076352
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: RET: 1900T>G; rs75076352
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



Genetic Profile of Indian Pheochromocytoma and Paraganglioma Patients - A Single Institutional Study.

Indian Journal Of Endocrinology And Metabolism
Agarwal, Gaurav G; Rajan, Sendhil S; Valiveru, Ramya C RC; Tulsyan, Sonam S; Agrawal, Vinita V; Mittal, Balraj B; Zaidi, Ghazala G; Mayilvaganan, Sabaretnam S; Mishra, Anjali A; Agarwal, Amit A; Mishra, Saroj Kanta SK; Bhatia, Eesh E
Publication Date: 2019

Variant appearance in text: RET: C634G
PubMed Link: 31741911
Variant Present in the following documents:
  • IJEM-23-486.pdf
View BVdb publication page



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: C634G
PubMed Link: 31510104
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1900T>G; C634G
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 1900T>G; Cys634Gly
PubMed Link: 31397861
Variant Present in the following documents:
  • jamanetwopen-2-e198898-s001.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: RET: 1900T>G; Cys634Gly
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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: C634G
PubMed Link: 30763276
Variant Present in the following documents:
  • Main text
  • EC-18-0506.pdf
View BVdb publication page



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: Cys634Gly
PubMed Link: 30300539
Variant Present in the following documents:
  • ec-7-998.pdf
View BVdb publication page



Over-diagnosis of potential malignant behavior in MEN 2A-associated pheochromocytomas using the PASS and GAPP algorithms.

Langenbeck'S Archives Of Surgery
Stenman, Adam A; Zedenius, Jan J; Juhlin, Carl Christofer CC
Publication Date: 2018-09

Variant appearance in text: RET: 1900T>G
PubMed Link: 29779047
Variant Present in the following documents:
  • Main text
  • 423_2018_Article_1679.pdf
View BVdb publication page



RET mutation heterogeneity in primary advanced medullary thyroid cancers and their metastases.

Oncotarget
Romei, Cristina C; Ciampi, Raffaele R; Casella, Francesca F; Tacito, Alessia A; Torregrossa, Liborio L; Ugolini, Clara C; Basolo, Fulvio F; Materazzi, Gabriele G; Vitti, Paolo P; Elisei, Rossella R
Publication Date: 2018-02-09

Variant appearance in text: RET: C634G
PubMed Link: 29515777
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection of early stage medullary thyroid carcinoma by measuring serum calcitonin using an electro chemiluminescence immuno-assay: A case report of a young Japanese woman with a high-risk RET mutation.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology
Abe, Yuki Y; Tsukano, Shinya S
Publication Date: 2017

Variant appearance in text: RET: Cys634Gly
PubMed Link: 29026273
Variant Present in the following documents:
  • Main text
  • cpe-26-243.pdf
View BVdb publication page



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: 1900T>G; Cys634Gly
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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: C634G
PubMed Link: 28199182
Variant Present in the following documents:
  • elife-21536-supp3.xlsx, sheet 1
View BVdb publication page



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: C634G
PubMed Link: 28181547
Variant Present in the following documents:
  • srep42074-s1.pdf
View BVdb publication page



Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Publication Date: 2017-04

Variant appearance in text: RET: 1900T>G; C634G
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



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: Cys634Gly
PubMed Link: 26758973
Variant Present in the following documents:
  • Main text
  • JCRPE-8-13.pdf
View BVdb publication page



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: C634G
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



RET mutation p.S891A in a Chinese family with familial medullary thyroid carcinoma and associated cutaneous amyloidosis binding OSMR variant p.G513D.

Oncotarget
Qi, Xiao-Ping XP; Zhao, Jian-Qiang JQ; Chen, Zhen-Guang ZG; Cao, Jin-Lin JL; Du, Juan J; Liu, Nai-Fang NF; Li, Feng F; Sheng, Mao M; Fu, Er E; Guo, Jian J; Jia, Hong H; Zhang, Yi-Ming YM; Ma, Ju-Ming JM
Publication Date: 2015-10-20

Variant appearance in text: MEN2A: C634G
PubMed Link: 26356818
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: C634G
PubMed Link: 26295973
Variant Present in the following documents:
  • Main text
  • pgen.1005467.s002.xls, sheet 1
View BVdb publication page



Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma.

Plos One
Crona, Joakim J; Ljungström, Viktor V; Welin, Staffan S; Walz, Martin K MK; Hellman, Per P; Björklund, Peyman P
Publication Date: 2015

Variant appearance in text: RET: Cys634Gly
PubMed Link: 26230854
Variant Present in the following documents:
  • Main text
  • pone.0133210.pdf
View BVdb publication page



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: C634G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



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: C634G
PubMed Link: 25425582
Variant Present in the following documents:
  • supp_ERC-14-0491_Supplementary_table_4.xlsx, sheet 1
View BVdb publication page



Selective activity over a constitutively active RET-variant of the oral multikinase inhibitor dovitinib: results of the CNIO-BR002 phase I-trial.

Molecular Oncology
Quintela-Fandino, Miguel M; Bueno, Maria J MJ; Lombardia, Luis L; Gil, Marta M; Gonzalez-Martin, Antonio A; Marquez, Raul R; Bratos, Raquel R; Guerra, Juan J; Tan, Eugene E; Lopez, Antonio A; Colomer, Ramon R; Salazar, Ramon R
Publication Date: 2014-12

Variant appearance in text: rs75076352
PubMed Link: 25103625
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

Plos One
Crona, Joakim J; Nordling, Margareta M; Maharjan, Rajani R; Granberg, Dan D; Stålberg, Peter P; Hellman, Per P; Björklund, Peyman P
Publication Date: 2014

Variant appearance in text: RET: 1900T>G; Cys634Gly
PubMed Link: 24466223
Variant Present in the following documents:
  • Main text
  • pone.0086756.pdf
View BVdb publication page



Validation of a next-generation sequencing assay for clinical molecular oncology.

The Journal Of Molecular Diagnostics : Jmd
Cottrell, Catherine E CE; Al-Kateb, Hussam H; Bredemeyer, Andrew J AJ; Duncavage, Eric J EJ; Spencer, David H DH; Abel, Haley J HJ; Lockwood, Christina M CM; Hagemann, Ian S IS; O'Guin, Stephanie M SM; Burcea, Lauren C LC; Sawyer, Christopher S CS; Oschwald, Dayna M DM; Stratman, Jennifer L JL; Sher, Dorie A DA; Johnson, Mark R MR; Brown, Justin T JT; Cliften, Paul F PF; George, Bijoy B; McIntosh, Leslie D LD; Shrivastava, Savita S; Nguyen, Tudung T TT; Payton, Jacqueline E JE; Watson, Mark A MA; Crosby, Seth D SD; Head, Richard D RD; Mitra, Robi D RD; Nagarajan, Rakesh R; Kulkarni, Shashikant S; Seibert, Karen K; Virgin, Herbert W HW; Milbrandt, Jeffrey J; Pfeifer, John D JD
Publication Date: 2014-01

Variant appearance in text: RET: C634G
PubMed Link: 24211365
Variant Present in the following documents:
  • Main text
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Measurement of calcitonin and calcitonin gene-related peptide mRNA refines the management of patients with medullary thyroid cancer and may replace calcitonin-stimulation tests.

Thyroid : Official Journal Of The American Thyroid Association
Camacho, Cléber P CP; Lindsey, Susan C SC; Melo, Maria Clara C MC; Yang, Ji H JH; Germano-Neto, Fausto F; Valente, Flávia de O F Fde O; Lima, Thiago R N TR; Biscolla, Rosa Paula M RP; Vieira, José G H JG; Cerutti, Janete M JM; Dias-da-Silva, Magnus R MR; Maciel, Rui M B RM
Publication Date: 2013-03

Variant appearance in text: RET: Cys634Gly
PubMed Link: 23259706
Variant Present in the following documents:
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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: RET: C634G
PubMed Link: 22747440
Variant Present in the following documents:
  • Main text
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Personalized medicine: caught between hope, hype and the real world.

Clinics (Sao Paulo, Brazil)
Dammann, Marc M; Weber, Frank F
Publication Date: 2012

Variant appearance in text: RET: C634G
PubMed Link: 22584712
Variant Present in the following documents:
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Multiple endocrine neoplasia: the Chilean experience.

Clinics (Sao Paulo, Brazil)
Diaz, René E RE; Wohllk, Nelson N
Publication Date: 2012

Variant appearance in text: MEN2A: C634G
PubMed Link: 22584699
Variant Present in the following documents:
  • Main text
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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: C634G
PubMed Link: 21765987
Variant Present in the following documents:
  • Main text
  • JTR2011-264248.pdf
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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: C634G
PubMed Link: 20223015
Variant Present in the following documents:
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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: Cys634Gly
PubMed Link: 20063095
Variant Present in the following documents:
  • Main text
  • 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: C634G
PubMed Link: 17384210
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Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography.

Neoplasia (New York, N.Y.)
Marsh, D J DJ; Theodosopoulos, G G; Howell, V V; Richardson, A L AL; Benn, D E DE; Proos, A L AL; Eng, C C; Robinson, B G BG
Publication Date: 2001

Variant appearance in text: RET: C634G
PubMed Link: 11494117
Variant Present in the following documents:
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