RET c.1852T>C ;(p.C618R)

Variant ID: 10-43609096-T-C

NM_020975.4(RET):c.1852T>C;(p.C618R)

This variant was identified in 70 publications

View GRCh38 version.




Publications:


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: C618R; rs76262710
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



Treatment of RET-Positive Advanced Medullary Thyroid Cancer with Multi-Tyrosine Kinase Inhibitors-A Retrospective Multi-Center Registry Analysis.

Cancers
Koehler, Viktoria Florentine VF; Adam, Pia P; Fuss, Carmina Teresa CT; Jiang, Linmiao L; Berg, Elke E; Frank-Raue, Karin K; Raue, Friedhelm F; Hoster, Eva E; Knösel, Thomas T; Schildhaus, Hans-Ulrich HU; Negele, Thomas T; Siebolts, Udo U; Lorenz, Kerstin K; Allelein, Stephanie S; Schott, Matthias M; Spitzweg, Christine C; Kroiss, Matthias M; ,
Publication Date: 2022-07-13

Variant appearance in text: RET: C618R
PubMed Link: 35884466
Variant Present in the following documents:
  • Main text
  • cancers-14-03405.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: C618R; rs76262710
PubMed Link: 35865963
Variant Present in the following documents:
  • Table12.xlsx, sheet 1
View BVdb publication page



The RET gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and RET mutation results in Hirschsprung's disease.

Aims Neuroscience
Bhattarai, Chacchu C; Poudel, Phanindra Prasad PP; Ghosh, Arnab A; Kalthur, Sneha Guruprasad SG
Publication Date: 2022

Variant appearance in text: RET: 1852T>C
PubMed Link: 35434281
Variant Present in the following documents:
  • Main text
  • neurosci-09-01-008.pdf
View BVdb publication page



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: MEN2A: Cys618Arg
PubMed Link: 35237400
Variant Present in the following documents:
  • Main text
  • 10.1177_20406223221079246.pdf
View BVdb publication page



Bilateral testicular metastases of medullary thyroid carcinoma in an adult male with multiple endocrine neoplasia 2A syndrome: case report and review of literature.

European Thyroid Journal
Orsolini, Francesca F; Prete, Alessandro A; Falcetta, Pierpaolo P; Canale, Domenico D; Basolo, Fulvio F; Alì, Greta G; Manassero, Francesca F; Vitti, Paolo P; Elisei, Rossella R; Molinaro, Eleonora E
Publication Date: 2022-03-18

Variant appearance in text: RET: Cys618Arg
PubMed Link: 35174786
Variant Present in the following documents:
  • Main text
  • ETJ-21-0016.pdf
View BVdb publication page



43rd Annual Meeting of the European Thyroid Association. Virtual Conference, September 4-7, 2021.

European Thyroid Journal
Publication Date: 2021-08

Variant appearance in text: RET: Cys618Arg
PubMed Link: 35129543
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: RET: 1852T>C; Cys618Arg; rs76262710
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s006.xlsx, sheet 1
View BVdb publication page



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: 1852T>C
PubMed Link: 34777782
Variant Present in the following documents:
  • JTR2021-7250870.pdf
View BVdb publication page



Parathyroid Tumors: Molecular Signatures.

International Journal Of Molecular Sciences
Marini, Francesca F; Giusti, Francesca F; Iantomasi, Teresa T; Brandi, Maria Luisa ML
Publication Date: 2021-10-18

Variant appearance in text: MEN2A: Cys618Arg
PubMed Link: 34681865
Variant Present in the following documents:
  • Main text
View BVdb publication page



Metastatic cluster 2-related pheochromocytoma/paraganglioma: a single-center experience and systematic review.

Endocrine Connections
Kumar, Sandeep S; Lila, Anurag Ranjan AR; Memon, Saba Samad SS; Sarathi, Vijaya V; Patil, Virendra A VA; Menon, Santosh S; Mittal, Neha N; Prakash, Gagan G; Malhotra, Gaurav G; Shah, Nalini S NS; Bandgar, Tushar R TR
Publication Date: 2021-11-11

Variant appearance in text: RET: 1852T>C
PubMed Link: 34662294
Variant Present in the following documents:
  • Main text
  • EC-21-0455.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: RET: C618R
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Increased RET Activity Coupled with a Reduction in the RET Gene Dosage Causes Intestinal Aganglionosis in Mice.

Eneuro
Okamoto, Mitsumasa M; Uesaka, Toshihiro T; Ito, Keisuke K; Enomoto, Hideki H
Publication Date: 2021

Variant appearance in text: RET: C618R
PubMed Link: 33958373
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: C618R
PubMed Link: 33827484
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8116.pdf
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: RET: 1852T>C; C618R
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: RET: C618R
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s003.xlsx, sheet 1
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: rs76262710
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.

Italian Journal Of Pediatrics
Schierz, Ingrid Anne Mandy IAM; Cimador, Marcello M; Giuffrè, Mario M; Aiello, Claudia Maria CM; Antona, Vincenzo V; Corsello, Giovanni G; Piro, Ettore E
Publication Date: 2020-09-18

Variant appearance in text: RET: C618R
PubMed Link: 32948239
Variant Present in the following documents:
  • Main text
  • 13052_2020_Article_901.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: RET: 1852T>C
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Comprehensive Immune Profiling of Medullary Thyroid Cancer.

Thyroid : Official Journal Of The American Thyroid Association
Pozdeyev, Nikita N; Erickson, Timothy A TA; Zhang, Lian L; Ellison, Kim K; Rivard, Christopher J CJ; Sams, Sharon S; Hirsch, Fred R FR; Haugen, Bryan R BR; French, Jena D JD
Publication Date: 2020-09

Variant appearance in text: RET: C618R
PubMed Link: 32242507
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: RET: C618R
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Efficacy of Cabozantinib and Nivolumab in Treating Hepatocellular Carcinoma with RET Amplification, High Tumor Mutational Burden, and PD-L1 Expression.

The Oncologist
Yang, Xiaobo X; Shi, Junping J; Chen, Xiaoqian X; Jiang, Yan Y; Zhao, Haitao H
Publication Date: 2020-06

Variant appearance in text: RET: C618R
PubMed Link: 32100934
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: RET: 1852T>C; C618R
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences
Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ
Publication Date: 2019

Variant appearance in text: RET: Cys618Arg
PubMed Link: 31681791
Variant Present in the following documents:
  • Data_Sheet_5.pdf
View BVdb publication page



Genetic Landscape of Somatic Mutations in a Large Cohort of Sporadic Medullary Thyroid Carcinomas Studied by Next-Generation Targeted Sequencing.

Iscience
Ciampi, Raffaele R; Romei, Cristina C; Ramone, Teresa T; Prete, Alessandro A; Tacito, Alessia A; Cappagli, Virginia V; Bottici, Valeria V; Viola, David D; Torregrossa, Liborio L; Ugolini, Clara C; Basolo, Fulvio F; Elisei, Rossella R
Publication Date: 2019-10-25

Variant appearance in text: RET: C618R
PubMed Link: 31605946
Variant Present in the following documents:
  • Main text
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: C618R
PubMed Link: 31510104
Variant Present in the following documents:
  • Main text
  • genes-10-00698.pdf
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: 1852T>C; C618R
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation.

Bmj Case Reports
Wood, Olivia R OR; Else, Tobias T; Sampson, Matthew G MG
Publication Date: 2019-08-30

Variant appearance in text: MEN2A: C618R
PubMed Link: 31471357
Variant Present in the following documents:
  • Main text
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: 1852T>C; Cys618Arg
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: 1852T>C; Cys618Arg
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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: HSCR1: 1852T>C; rs76262710
PubMed Link: 30409984
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_34815.pdf
View BVdb publication page



Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Virchows Archiv : An International Journal Of Pathology
Williams, Hannah L HL; Walsh, Kathy K; Diamond, Austin A; Oniscu, Anca A; Deans, Zandra C ZC
Publication Date: 2018-10

Variant appearance in text: RET: 1852T>C; C618R
PubMed Link: 30105577
Variant Present in the following documents:
  • 428_2018_2411_MOESM3_ESM.xlsx, sheet 1
  • 428_2018_2411_MOESM1_ESM.xlsx, sheet 3
  • 428_2018_2411_MOESM1_ESM.xlsx, sheet 4
  • 428_2018_2411_MOESM2_ESM.xlsx, sheet 1
  • 428_2018_2411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: Cys618Arg
PubMed Link: 30013307
Variant Present in the following documents:
  • Main text
  • 10.1177_1177271918785129.pdf
View BVdb publication page



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: Cys618Arg
PubMed Link: 29590403
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Cys618Arg
PubMed Link: 29396759
Variant Present in the following documents:
  • Main text
  • 40618_2018_Article_841.pdf
View BVdb publication page



Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Oncotarget
Gudernova, Iva I; Balek, Lukas L; Varecha, Miroslav M; Kucerova, Jana Fialova JF; Kunova Bosakova, Michaela M; Fafilek, Bohumil B; Palusova, Veronika V; Uldrijan, Stjepan S; Trantirek, Lukas L; Krejci, Pavel P
Publication Date: 2017-12-12

Variant appearance in text: RET: C618R
PubMed Link: 29312610
Variant Present in the following documents:
  • Main text
  • oncotarget-08-109319.pdf
View BVdb publication page



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



The results of molecular genetic testing for RET proto-oncogene mutations in patients with medullary thyroid carcinoma in a referral center after the two decade period.

Hippokratia
Rovcanin, B B; Damjanovic, S S; Zivaljevic, V V; Diklic, A A; Jovanovic, M M; Paunovic, I I
Publication Date: 2016

Variant appearance in text: RET: Cys618Arg
PubMed Link: 29097883
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Human Mutation
Cardoso, Luís L; Stevenson, Mark M; Thakker, Rajesh V RV
Publication Date: 2017-12

Variant appearance in text: RET: 1852T>C
PubMed Link: 28881068
Variant Present in the following documents:
  • HUMU-38-1621.pdf
View BVdb publication page



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: C618R
PubMed Link: 28740527
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: MEN2A: C618R
PubMed Link: 28729773
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prognostic Impact of miR-224 and RAS Mutations in Medullary Thyroid Carcinoma.

International Journal Of Endocrinology
Cavedon, Elisabetta E; Barollo, Susi S; Bertazza, Loris L; Pennelli, Gianmaria G; Galuppini, Francesca F; Watutantrige-Fernando, Sara S; Censi, Simona S; Iacobone, Maurizio M; Benna, Clara C; Vianello, Federica F; Zovato, Stefania S; Nacamulli, Davide D; Mian, Caterina C
Publication Date: 2017

Variant appearance in text: RET: C618R
PubMed Link: 28676824
Variant Present in the following documents:
  • Main text
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: 1852T>C; Cys618Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline.

Plos One
Giannoulatou, Eleni E; Maher, Geoffrey J GJ; Ding, Zhihao Z; Gillis, Ad J M AJM; Dorssers, Lambert C J LCJ; Hoischen, Alexander A; Rajpert-De Meyts, Ewa E; , ; McVean, Gilean G; Wilkie, Andrew O M AOM; Looijenga, Leendert H J LHJ; Goriely, Anne A
Publication Date: 2017

Variant appearance in text: MEN2A: C618R
PubMed Link: 28542371
Variant Present in the following documents:
  • pone.0178169.s009.xlsx, sheet 3
View BVdb publication page



Demonstration of a potent RET transcriptional inhibitor for the treatment of medullary thyroid carcinoma based on an ellipticine derivative.

International Journal Of Oncology
Kumarasamy, Vishnu Muthuraj VM; Sun, Daekyu D
Publication Date: 2017-07

Variant appearance in text: RET: C618R
PubMed Link: 28498409
Variant Present in the following documents:
  • ijo-51-01-0145.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: 1852T>C; C618R
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 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: C618R
PubMed Link: 27809725
Variant Present in the following documents:
  • Main text
  • thy.2016.0411.pdf
View BVdb publication page



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: RET: C618R
PubMed Link: 27207748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pediatric Medullary Thyroid Carcinoma.

Journal Of Pediatric Oncology
Starenki, Dmytro D; Park, Jong-In JI
Publication Date: 2015

Variant appearance in text: RET: C618R
PubMed Link: 27014708
Variant Present in the following documents:
  • Main text
  • nihms764981.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: N/A
PubMed Link: 26659599
Variant Present in the following documents:
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: C618R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese.

Hereditary Cancer In Clinical Practice
Zhao, Jian-Qiang JQ; Chen, Zhen-Guang ZG; Qi, Xiao-Ping XP
Publication Date: 2015

Variant appearance in text: MEN2A: C618R
PubMed Link: 25628771
Variant Present in the following documents:
  • Main text
  • 13053_2015_Article_26.pdf
View BVdb publication page