RET c.2370G>T ;(p.L790F)

Variant ID: 10-43613906-G-T

NM_020975.4(RET):c.2370G>T;(p.L790F)

This variant was identified in 79 publications

View GRCh38 version.




Publications:


Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark: A Nationwide Population-Based Retrospective Study in Denmark 1930-2021.

Cancers
Holm, Magnus M; Vestergaard, Peter P; Poulsen, Morten Møller MM; Rasmussen, Åse Krogh ÅK; Feldt-Rasmussen, Ulla U; Bay, Mette M; Rolighed, Lars L; Londero, Stefano S; Pedersen, Henrik Baymler HB; Hahn, Christoffer Holst CH; Rask, Klara Bay KB; Nielsen, Heidi Hvid HH; Gaustadnes, Mette M; Rossing, Maria Caroline MC; Hermann, Anne Pernille AP; Godballe, Christian C; Mathiesen, Jes Sloth JS
Publication Date: 2023-04-02

Variant appearance in text: RET: Leu790Phe
PubMed Link: 37046785
Variant Present in the following documents:
  • Main text
  • cancers-15-02125.pdf
View BVdb publication page



Temporal trends in referrals of RET gene carriers for neck surgery to a tertiary surgical center in the era of international management guidelines.

Endocrine
Machens, Andreas A; Lorenz, Kerstin K; Huessler, Eva-Maria EM; Stang, Andreas A; Weber, Frank F; Dralle, Henning H
Publication Date: 2022-12-02

Variant appearance in text: RET: Leu790Phe
PubMed Link: 36456885
Variant Present in the following documents:
  • Main text
  • 12020_2022_Article_3273.pdf
View BVdb publication page



RET Proto-Oncogene-Not Such an Obvious Starting Point in Cancer Therapy.

Cancers
Kucharczyk, Tomasz T; Krawczyk, Paweł P; Kowalski, Dariusz M DM; Płużański, Adam A; Kubiatowski, Tomasz T; Kalinka, Ewa E
Publication Date: 2022-10-27

Variant appearance in text: MEN2A: L790F
PubMed Link: 36358717
Variant Present in the following documents:
  • Main text
  • cancers-14-05298.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: N/A
PubMed Link: 36344509
Variant Present in the following documents:
View BVdb publication page



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: L790F
PubMed Link: 35962206
Variant Present in the following documents:
  • 41591_2022_1931_MOESM1_ESM.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: 2370G>T
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: N/A
PubMed Link: 35865963
Variant Present in the following documents:
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: 2370G>T; Leu790Phe
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
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: RET: Leu790Phe
PubMed Link: 35237400
Variant Present in the following documents:
  • Main text
  • 10.1177_20406223221079246.pdf
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: 2370G>T
PubMed Link: 34777782
Variant Present in the following documents:
  • JTR2021-7250870.pdf
View BVdb publication page



Active Surveillance in RET Gene Carriers Belonging to Families with Multiple Endocrine Neoplasia.

Cancers
Prete, Alessandro A; Matrone, Antonio A; Gambale, Carla C; Bottici, Valeria V; Cappagli, Virginia V; Romei, Cristina C; Torregrossa, Liborio L; Valerio, Laura L; Minaldi, Elisa E; Campopiano, Maria Cristina MC; Lorusso, Loredana L; Agate, Laura L; Molinaro, Eleonora E; Viola, David D; Ramone, Teresa T; Mulè, Chiara C; Ciampi, Raffaele R; Basolo, Fulvio F; Elisei, Rossella R
Publication Date: 2021-11-05

Variant appearance in text: N/A
PubMed Link: 34771717
Variant Present in the following documents:
View BVdb publication page



Continued Discontinuation of TKI Treatment in Medullary Thyroid Carcinoma - Lessons From Individual Cases With Long-Term Follow-Up.

Frontiers In Endocrinology
Brandenburg, Tim T; Tiedje, Vera V; Muchalla, Philipp P; Theurer, Sarah S; Weber, Frank F; Schmid, Kurt Werner KW; Dralle, Henning H; Führer, Dagmar D
Publication Date: 2021

Variant appearance in text: RET: L790F
PubMed Link: 34659114
Variant Present in the following documents:
  • Main text
  • fendo-12-718418.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: L790F
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: L790F
PubMed Link: 34154310
Variant Present in the following documents:
  • enm-2021-1082.pdf
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: 2370G>T
PubMed Link: 33827484
Variant Present in the following documents:
  • Main text
View BVdb publication page



Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lee, Christopher C; Elsekaily, Omar O; Kochan, David C DC; Alhalabi, Lubna L; Faizee, Faizan F; Sharp, Richard R; Lindor, Noralane M NM; Kullo, Iftikhar J IJ
Publication Date: 2021-07

Variant appearance in text: RET: 2370G>T; Leu790Phe
PubMed Link: 33824501
Variant Present in the following documents:
  • NIHMS1700422-supplement-Supplementary___Appendix__online_only_material__etc___2.pdf
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: 2370G>T; rs75030001
PubMed Link: 33777662
Variant Present in the following documents:
  • Main text
  • JKCVHL-8-019.pdf
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: L790F
PubMed Link: 33572167
Variant Present in the following documents:
  • Main text
  • ijms-22-01726.pdf
View BVdb publication page



Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.

Cancers
Innella, Giovanni G; Rossi, Cesare C; Romagnoli, Maria M; Repaci, Andrea A; Bianchi, Davide D; Cantarini, Maria Elena ME; Martorana, Davide D; Godino, Lea L; Pession, Andrea A; Percesepe, Antonio A; Pagotto, Uberto U; Turchetti, Daniela D
Publication Date: 2020-11-05

Variant appearance in text: MEN2B: 2370G>T
PubMed Link: 33167350
Variant Present in the following documents:
  • Main text
  • cancers-12-03268.pdf
View BVdb publication page



Roles of the RET Proto-oncogene in Cancer and Development.

Jma Journal
Takahashi, Masahide M; Kawai, Kumi K; Asai, Naoya N
Publication Date: 2020-07-15

Variant appearance in text: RET: L790F
PubMed Link: 33150251
Variant Present in the following documents:
  • Main text
  • 2433-3298-3-3-0175.pdf
View BVdb publication page



Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10

Variant appearance in text: RET: 2370G>T; Leu790Phe
PubMed Link: 33087929
Variant Present in the following documents:
  • 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: RET: 2370G>T; Leu790Phe
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.

Frontiers In Endocrinology
Mathiesen, Jes Sloth JS; Nielsen, Søren Grønlund SG; Rasmussen, Åse Krogh ÅK; Kiss, Katalin K; Wadt, Karin K; Hermann, Anne Pernille AP; Nielsen, Morten Frost MF; Larsen, Stine Rosenkilde SR; Brusgaard, Klaus K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C; Rossing, Maria M
Publication Date: 2020

Variant appearance in text: RET: 2370G>T; L790F; rs75030001
PubMed Link: 32411094
Variant Present in the following documents:
  • Main text
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: N/A
PubMed Link: 32376047
Variant Present in the following documents:
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: N/A
PubMed Link: 32375120
Variant Present in the following documents:
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: L790F
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: RET: L790F
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: rs75030001
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 6
  • pcbi.1007453.s004.xlsx, sheet 7
  • pcbi.1007453.s004.xlsx, sheet 2
  • pcbi.1007453.s002.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: L790F
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: 2370G>T; L790F
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
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: 2370G>T; Leu790Phe
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: RET: 2370G>T; Leu790Phe
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
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: L790F
PubMed Link: 30763276
Variant Present in the following documents:
  • Main text
View BVdb publication page



Completeness of RET testing in patients with medullary thyroid carcinoma in Denmark 1997-2013: a nationwide study.

Clinical Epidemiology
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; Schytte, Sten S; Londero, Stefano Christian SC; Pedersen, Henrik Baymler HB; Hahn, Christoffer Holst CH; Bentzen, Jens J; Möller, Sören S; Gaustadnes, Mette M; Rossing, Maria M; Nielsen, Finn Cilius FC; Brixen, Kim K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C; ,
Publication Date: 2019

Variant appearance in text: RET: L790F
PubMed Link: 30666164
Variant Present in the following documents:
  • Main text
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: L790F
PubMed Link: 30624503
Variant Present in the following documents:
  • Main text
  • 2359-4292-aem-62-06-0623.pdf
View BVdb publication page



Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997-2014: 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; Schytte, Sten S; Londero, Stefano Christian SC; Pedersen, Henrik Baymler HB; Hahn, Christoffer Holst CH; Bentzen, Jens J; Möller, Sören S; Gaustadnes, Mette M; Rossing, Maria M; Nielsen, Finn Cilius FC; Brixen, Kim K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C
Publication Date: 2019-03

Variant appearance in text: RET: L790F
PubMed Link: 30618340
Variant Present in the following documents:
  • Main text
  • thy.2018.0564.pdf
View BVdb publication page



Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.

Genome Research
Maher, Geoffrey J GJ; Ralph, Hannah K HK; Ding, Zhihao Z; Koelling, Nils N; Mlcochova, Hana H; Giannoulatou, Eleni E; Dhami, Pawan P; Paul, Dirk S DS; Stricker, Stefan H SH; Beck, Stephan S; McVean, Gilean G; Wilkie, Andrew O M AOM; Goriely, Anne A
Publication Date: 2018-12

Variant appearance in text: RET: 2370G>T
PubMed Link: 30355600
Variant Present in the following documents:
  • supp_gr.239186.118_Supplemental_Table_S3.xlsx, sheet 2
View BVdb publication page



Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study.

Clinical Epidemiology
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; Schytte, Sten S; Pedersen, Henrik Baymler HB; Hahn, Christoffer Holst CH; Bentzen, Jens J; Möller, Sören S; Gaustadnes, Mette M; Rossing, Maria M; Nielsen, Finn Cilius FC; Brixen, Kim K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C
Publication Date: 2018

Variant appearance in text: RET: 2370G>T
PubMed Link: 30349395
Variant Present in the following documents:
  • Main text
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: N/A
PubMed Link: 30013307
Variant Present in the following documents:
View BVdb publication page



Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study.

Endocrine Connections
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; Schytte, Sten S; Londero, Stefano Christian SC; Pedersen, Henrik Baymler HB; Hahn, Christoffer Holst CH; Djurhuus, Bjarki Ditlev BD; Bentzen, Jens J; Möller, Sören S; Gaustadnes, Mette M; Rossing, Maria M; Nielsen, Finn Cilius FC; Brixen, Kim K; Frederiksen, Anja Lisbeth AL; Godballe, Christian C; ,
Publication Date: 2018-06

Variant appearance in text: RET: L790F
PubMed Link: 29760189
Variant Present in the following documents:
  • Main text
  • ec-7-829.pdf
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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: 2370G>T
PubMed Link: 29590403
Variant Present in the following documents:
  • Main text
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Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.

Journal Of The Endocrine Society
Newey, Paul J PJ; Berg, Jonathan N JN; Zhou, Kaixin K; Palmer, Colin N A CNA; Thakker, Rajesh V RV
Publication Date: 2017-12-01

Variant appearance in text: RET: Leu790Phe
PubMed Link: 29308445
Variant Present in the following documents:
  • Main text
  • js-01-12-1507.pdf
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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: rs75030001
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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Outcomes of Children and Adolescents with Advanced Hereditary Medullary Thyroid Carcinoma Treated with Vandetanib.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Kraft, Ira L IL; Akshintala, Srivandana S; Zhu, Yuelin Y; Lei, Haiyan H; Derse-Anthony, Claudia C; Dombi, Eva E; Steinberg, Seth M SM; Lodish, Maya M; Waguespack, Steven G SG; Kapustina, Oxana O; Fox, Elizabeth E; Balis, Frank M FM; Merino, Maria J MJ; Meltzer, Paul S PS; Glod, John W JW; Shern, Jack F JF; Widemann, Brigitte C BC
Publication Date: 2018-02-15

Variant appearance in text: RET: Leu790Phe
PubMed Link: 29187393
Variant Present in the following documents:
  • Main text
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Advances in the management of MEN2: from improved surgical and medical treatment to novel kinase inhibitors.

Endocrine-Related Cancer
Wells, Samuel A SA
Publication Date: 2018-02

Variant appearance in text: RET: L790F
PubMed Link: 29142004
Variant Present in the following documents:
  • Main text
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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: N/A
PubMed Link: 29097883
Variant Present in the following documents:
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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: L790F
PubMed Link: 28951487
Variant Present in the following documents:
  • Main text
  • ec-6-676.pdf
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