RET c.1859G>T ;(p.C620F)

Variant ID: 10-43609103-G-T

NM_020975.4(RET):c.1859G>T;(p.C620F)

This variant was identified in 30 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: C620F; rs77503355
PubMed Link: 36344509
Variant Present in the following documents:
  • 41421_2022_479_MOESM4_ESM.xlsx, sheet 2
  • 41421_2022_479_MOESM4_ESM.xlsx, sheet 3
  • 41421_2022_479_MOESM2_ESM.xlsx, sheet 1
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Pan-cancer efficacy of pralsetinib in patients with RET fusion-positive solid tumors from the phase 1/2 ARROW trial.

Nature Medicine
Subbiah, Vivek V; Cassier, Philippe A PA; Siena, Salvatore S; Garralda, Elena E; Paz-Ares, Luis L; Garrido, Pilar P; Nadal, Ernest E; Vuky, Jacqueline J; Lopes, Gilberto G; Kalemkerian, Gregory P GP; Bowles, Daniel W DW; Seetharam, Mahesh M; Chang, Jianhua J; Zhang, Hui H; Green, Jennifer J; Zalutskaya, Alena A; Schuler, Martin M; Fan, Yun Y; Curigliano, Giuseppe G
Publication Date: 2022-08

Variant appearance in text: RET: C620F
PubMed Link: 35962206
Variant Present in the following documents:
  • 41591_2022_1931_MOESM1_ESM.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: N/A
PubMed Link: 35865963
Variant Present in the following documents:
View BVdb publication page



Current Guidelines for Management of Medullary Thyroid Carcinoma.

Endocrinology And Metabolism (Seoul, Korea)
Kim, Mijin M; Kim, Bo Hyun BH
Publication Date: 2021-06

Variant appearance in text: RET: C620F
PubMed Link: 34154310
Variant Present in the following documents:
  • Main text
  • enm-2021-1082.pdf
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: RET: C620F; rs77503355
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.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: rs77503355
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic testing in endocrine surgery: Opportunities for precision surgery.

Surgery
Alobuia, Wilson W; Annes, Justin J; Kebebew, Electron E
Publication Date: 2020-08

Variant appearance in text: RET: C620F
PubMed Link: 32376047
Variant Present in the following documents:
  • Main text
View BVdb publication page



Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Endocrine Connections
Larsen, Louise Vølund LV; Mirebeau-Prunier, Delphine D; Imai, Tsuneo T; Alvarez-Escola, Cristina C; Hasse-Lazar, Kornelia K; Censi, Simona S; Castroneves, Luciana A LA; Sakurai, Akihiro A; Kihara, Minoru M; Horiuchi, Kiyomi K; Barbu, Véronique Dorine VD; Borson-Chazot, Francoise F; Gimenez-Roqueplo, Anne-Paule AP; Pigny, Pascal P; Pinson, Stephane S; Wohllk, Nelson N; Eng, Charis C; Aydogan, Berna Imge BI; Saranath, Dhananjaya D; Dvorakova, Sarka S; Castinetti, Frederic F; Patocs, Attila A; Bergant, Damijan D; Links, Thera P TP; Peczkowska, Mariola M; Hoff, Ana O AO; Mian, Caterina C; Dwight, Trisha T; Jarzab, Barbara B; Neumann, Hartmut P H HPH; Robledo, Mercedes M; Uchino, Shinya S; Barlier, Anne A; Godballe, Christian C; Mathiesen, Jes Sloth JS
Publication Date: 2020-06

Variant appearance in text: RET: C620F
PubMed Link: 32375120
Variant Present in the following documents:
  • Main text
  • EC-20-0163.pdf
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: RET: 1859G>T; C620F
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: RET: 1859G>T; Cys620Phe; rs77503355
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Current Management of Pheochromocytoma/Paraganglioma: A Guide for the Practicing Clinician in the Era of Precision Medicine.

Cancers
Nölting, Svenja S; Ullrich, Martin M; Pietzsch, Jens J; Ziegler, Christian G CG; Eisenhofer, Graeme G; Grossman, Ashley A; Pacak, Karel K
Publication Date: 2019-10-08

Variant appearance in text: RET: C620F
PubMed Link: 31597347
Variant Present in the following documents:
  • Main text
  • cancers-11-01505.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: 1859G>T; C620F
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of Cell-Free DNA from 32,989 Advanced Cancers Reveals Novel Co-occurring Activating RET Alterations and Oncogenic Signaling Pathway Aberrations.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Rich, Thereasa A TA; Reckamp, Karen L KL; Chae, Young Kwang YK; Doebele, Robert C RC; Iams, Wade T WT; Oh, Michael M; Raymond, Victoria M VM; Lanman, Richard B RB; Riess, Jonathan W JW; Stinchcombe, Thomas E TE; Subbiah, Vivek V; Trevarthen, David R DR; Fairclough, Stephen S; Yen, Jennifer J; Gautschi, Oliver O
Publication Date: 2019-10-01

Variant appearance in text: RET: C620F
PubMed Link: 31300450
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: 1859G>T; Cys620Phe
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



RET rearrangements are actionable alterations in breast cancer.

Nature Communications
Paratala, Bhavna S BS; Chung, Jon H JH; Williams, Casey B CB; Yilmazel, Bahar B; Petrosky, Whitney W; Williams, Kirstin K; Schrock, Alexa B AB; Gay, Laurie M LM; Lee, Ellen E; Dolfi, Sonia C SC; Pham, Kien K; Lin, Stephanie S; Yao, Ming M; Kulkarni, Atul A; DiClemente, Frances F; Liu, Chen C; Rodriguez-Rodriguez, Lorna L; Ganesan, Shridar S; Ross, Jeffrey S JS; Ali, Siraj M SM; Leyland-Jones, Brian B; Hirshfield, Kim M KM
Publication Date: 2018-11-16

Variant appearance in text: RET: C620F
PubMed Link: 30446652
Variant Present in the following documents:
  • Main text
  • 41467_2018_7341_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_Article_7341.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: C620F
PubMed Link: 29515777
Variant Present in the following documents:
  • Main text
  • oncotarget-09-9875.pdf
View BVdb publication page



Medullary Thyroid Carcinoma in MEN2A: ATA Moderate- or High-Risk RET Mutations Do Not Predict Disease Aggressiveness.

The Journal Of Clinical Endocrinology And Metabolism
Voss, Rachel K RK; Feng, Lei L; Lee, Jeffrey E JE; Perrier, Nancy D ND; Graham, Paul H PH; Hyde, Samuel M SM; Nieves-Munoz, Frances F; Cabanillas, Maria E ME; Waguespack, Steven G SG; Cote, Gilbert J GJ; Gagel, Robert F RF; Grubbs, Elizabeth G EG
Publication Date: 2017-08-01

Variant appearance in text: RET: C620F
PubMed Link: 28609830
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nodular Thyroid Disease and Thyroid Cancer in the Era of Precision Medicine.

European Thyroid Journal
Zafon, Carles C; Díez, Juan J JJ; Galofré, Juan C JC; Cooper, David S DS
Publication Date: 2017-04

Variant appearance in text: RET: C620F
PubMed Link: 28589087
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: 1859G>T; Cys620Phe
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: C620F
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Thyroid : Official Journal Of The American Thyroid Association
Wells, Samuel A SA; Asa, Sylvia L SL; Dralle, Henning H; Elisei, Rossella R; Evans, Douglas B DB; Gagel, Robert F RF; Lee, Nancy N; Machens, Andreas A; Moley, Jeffrey F JF; Pacini, Furio F; Raue, Friedhelm F; Frank-Raue, Karin K; Robinson, Bruce B; Rosenthal, M Sara MS; Santoro, Massimo M; Schlumberger, Martin M; Shah, Manisha M; Waguespack, Steven G SG; ,
Publication Date: 2015-06

Variant appearance in text: RET: C620F
PubMed Link: 25810047
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tandem Germline RET Mutations in a Family Pathogenetic for Multiple Endocrine Neoplasia 2B, Confirmed by a Natural Experiment.

European Thyroid Journal
Kihara, Minoru M; Miyauchi, Akira A; Yoshida, Hiroshi H; Yamada, Osamu O; Masuoka, Hiroo H; Yabuta, Tomonori T; Higashiyama, Takuya T; Fukushima, Mitsuhiro M; Ito, Yasuhiro Y; Kobayashi, Kaoru K; Miya, Akihiro A
Publication Date: 2014-12

Variant appearance in text: RET: C620F
PubMed Link: 25759805
Variant Present in the following documents:
  • Main text
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: C620F
PubMed Link: 25425582
Variant Present in the following documents:
  • Main text
  • ERC140491.pdf
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: C620F; rs77503355
PubMed Link: 24144365
Variant Present in the following documents:
  • Main text
  • 1472-6823-13-48.pdf
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: C620F
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: 1859G>T
PubMed Link: 21738440
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: 1859G>T
PubMed Link: 20808642
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: RET: C620F
PubMed Link: 19767587
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of GC clamps in DHPLC mutation scanning.

Clinical Medicine & Research
Wurzburger, Robert J RJ; Gupta, Rajarsi R; Parnassa, Andrew P AP; Jain, Sargam S; Wexler, Jason A JA; Chu, Jia Li JL; Elkon, Keith B KB; Blank, Robert D RD
Publication Date: 2003-04

Variant appearance in text: RET: C620F
PubMed Link: 15931297
Variant Present in the following documents:
  • Main text
View BVdb publication page