RET c.1543T>A ;(p.C515S)

Variant ID: 10-43607567-T-A

NM_020975.4(RET):c.1543T>A;(p.C515S)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


An integrative pan cancer analysis of RET aberrations and their potential clinical implications.

Scientific Reports
Zhou, Lei L; Li, Juanni J; Zhang, Xiaofang X; Xu, Zhijie Z; Yan, Yuanliang Y; Hu, Kuan K
Publication Date: 2022-08-17

Variant appearance in text: RET: C515S
PubMed Link: 35978072
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_17791.pdf
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: RET: C515S
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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: C515S
PubMed Link: 33572167
Variant Present in the following documents:
  • Main text
  • ijms-22-01726.pdf
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: RET: C515S
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



A pioneering RET genetic screening study in the State of Ceará, Brazil, evaluating patients with medullary thyroid cancer and at-risk relatives: experience with 247 individuals.

Archives Of Endocrinology And Metabolism
Martins-Costa, Maria Cecília MC; Lindsey, Susan C SC; Cunha, Lucas L LL; Carreiro-Filho, Fernando Porto FP; Cortez, André P AP; Holanda, Marcelo E ME; Farias, J Wilson M de JWM; Lima, Sérgio B SB; Ferreira, Luís A Albano LAA; Maia Filho, Pedro Collares PC; Camacho, Cléber P CP; Furuzawa, Gilberto K GK; Kunii, Ilda S IS; Dias-da-Silva, Magnus R MR; Martins, João R M JRM; Maciel, Rui M B RMB
Publication Date: 2018

Variant appearance in text: RET: C515S
PubMed Link: 30624503
Variant Present in the following documents:
  • Main text
  • 2359-4292-aem-62-06-0623.pdf
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: Cys515Ser
PubMed Link: 30013307
Variant Present in the following documents:
  • Main text
  • 10.1177_1177271918785129.pdf
View BVdb publication page



Familial MTC with RET exon 8 Gly533Cys mutation: origin and prevalence of second malignancy.

Endocrine Connections
Saltiki, Katerina K; Anagnostou, Elli E; Simeakis, George G; Kouki, Sofia S; Angelopoulou, Anastasia A; Sarika, Leda L; Papathoma, Alexandra A; Alevizaki, Maria M
Publication Date: 2017-11

Variant appearance in text: RET: cys515ser
PubMed Link: 28951487
Variant Present in the following documents:
  • ec-6-676.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: C515S
PubMed Link: 28740527
Variant Present in the following documents:
  • Main text
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: C515S
PubMed Link: 27809725
Variant Present in the following documents:
  • Main text
  • thy.2016.0411.pdf
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: C515S
PubMed Link: 27014708
Variant Present in the following documents:
  • Main text
  • nihms764981.pdf
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: RET: C515S
PubMed Link: 26356818
Variant Present in the following documents:
  • Main text
  • oncotarget-06-33993.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: C515S
PubMed Link: 25425582
Variant Present in the following documents:
  • supp_ERC-14-0491_Supplementary_table_3.xlsx, sheet 1
View BVdb publication page



The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association.

Thyroid Research
Fugazzola, Laura L; De Leo, Simone S; Perrino, Michela M
Publication Date: 2013-03-14

Variant appearance in text: RET: cys515ser
PubMed Link: 23514012
Variant Present in the following documents:
  • 1756-6614-6-S1-S8.pdf
View BVdb publication page



Multiple endocrine neoplasia type 2: achievements and current challenges.

Clinics (Sao Paulo, Brazil)
Machens, Andreas A; Dralle, Henning H
Publication Date: 2012

Variant appearance in text: RET: cys515ser
PubMed Link: 22584715
Variant Present in the following documents:
  • cln-67-s1-113.pdf
View BVdb publication page