RET c.1853G>C ;(p.C618S)

Variant ID: 10-43609097-G-C

NM_020975.4(RET):c.1853G>C;(p.C618S)

This variant was identified in 50 publications

View GRCh38 version.




Publications:


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



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

Cancers
Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P
Publication Date: 2022-01-06

Variant appearance in text: rs79781594
PubMed Link: 35053433
Variant Present in the following documents:
  • cancers-14-00269.pdf
View BVdb publication page



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

Cancers
Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P
Publication Date: 2022-01-06

Variant appearance in text: rs79781594
PubMed Link: 35053433
Variant Present in the following documents:
  • cancers-14-00269.pdf
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: C618S
PubMed Link: 33958373
Variant Present in the following documents:
  • Main text
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: C618S
PubMed Link: 33938650
Variant Present in the following documents:
  • Main text
View BVdb publication page



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



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



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



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: rs79781594
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
van Rooij, Jeroen J; Arp, Pascal P; Broer, Linda L; Verlouw, Joost J; van Rooij, Frank F; Kraaij, Robert R; Uitterlinden, André A; Verkerk, Annemieke J M H AJMH
Publication Date: 2020-11

Variant appearance in text: rs79781594
PubMed Link: 32665702
Variant Present in the following documents:
  • Main text
View BVdb publication page



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



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



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: 1853G>C; C618S
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: RET: 1853G>C
PubMed Link: 31471357
Variant Present in the following documents:
  • Main text
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: 1853G>C; Cys618Ser
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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



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



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



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



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: RET: C618S
PubMed Link: 28729773
Variant Present in the following documents:
  • Main text
  • cjcr-29-3-223.pdf
View BVdb publication page



Analysis of Newly Identified and Rare Synonymous Genetic Variants in the RET Gene in Patients with Medullary Thyroid Carcinoma in Polish Population.

Endocrine Pathology
Sromek, Maria M; Czetwertyńska, Małgorzata M; Tarasińska, Magdalena M; Janiec-Jankowska, Aneta A; Zub, Renata R; Ćwikła, Maria M; Nowakowska, Dorota D; Chechlińska, Magdalena M
Publication Date: 2017-09

Variant appearance in text: MEN2A: 1853G>C
PubMed Link: 28647780
Variant Present in the following documents:
  • Main text
  • 12022_2017_Article_9487.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: 1853G>C; Cys618Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: C618S
PubMed Link: 28181547
Variant Present in the following documents:
  • srep42074-s1.pdf
View BVdb publication page



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: RET: C618S
PubMed Link: 27935748
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: RET: C618S
PubMed Link: 27575943
Variant Present in the following documents:
  • Main text
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: C618S
PubMed Link: 27207748
Variant Present in the following documents:
  • Main text
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: Cys618Ser
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: N/A
PubMed Link: 26659599
Variant Present in the following documents:
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: C618S
PubMed Link: 26295973
Variant Present in the following documents:
  • Main text
  • pgen.1005467.s002.xls, sheet 1
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: C618S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



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



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



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; rs79781594
PubMed Link: 24144365
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: MEN2A: C618S
PubMed Link: 23685355
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: RET: C618s
PubMed Link: 23563004
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.

Journal Of Korean Medical Science
Choi, Young Sik YS; Kwon, Hye Jung HJ; Kim, Bu Kyung BK; Kwon, Su Kyoung SK; Park, Yo Han YH; Kim, Jeong Hoon JH; Jung, Sang Bong SB; Lee, Chang Hoon CH; Lee, Seong Keun SK; Uchino, Shinya S
Publication Date: 2013-01

Variant appearance in text: RET: Cys618Ser
PubMed Link: 23341727
Variant Present in the following documents:
  • Main text
  • jkms-28-156.pdf
View BVdb publication page



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: RET: Cys618Ser
PubMed Link: 22865907
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: C618S
PubMed Link: 22747440
Variant Present in the following documents:
  • Main text
View BVdb publication page



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



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



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



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: 1853G>C; C618S
PubMed Link: 21738440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nucleotide extension genotyping by high-resolution melting.

The Journal Of Molecular Diagnostics : Jmd
Liew, Michael M; Wittwer, Carl C; Voelkerding, Karl V KV
Publication Date: 2010-11

Variant appearance in text: RET: 1853G>C
PubMed Link: 20847280
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1853G>C; C618S
PubMed Link: 20808642
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: RET: C618S
PubMed Link: 20371662
Variant Present in the following documents:
  • Main text
View BVdb publication page



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



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: RET: C618S
PubMed Link: 20065189
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: MEN2A: Cys618Ser
PubMed Link: 19767587
Variant Present in the following documents:
  • Main text
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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-File011.xls, sheet 2
  • gkn1008_nar-01723-s-2008-File009.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: RET: C618S
PubMed Link: 17384210
Variant Present in the following documents:
  • Main text
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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: RET: C618S
PubMed Link: 15858153
Variant Present in the following documents:
  • Main text
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