RET c.1997A>T ;(p.K666M)

Variant ID: 10-43610045-A-T

NM_020975.4(RET):c.1997A>T;(p.K666M)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03

Variant appearance in text: RET: 1997A>T
PubMed Link: 34983940
Variant Present in the following documents:
  • 41431_2021_1013_MOESM1_ESM.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: K666M
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.

Cancers
Tedaldi, Gianluca G; Pirini, Francesca F; Tebaldi, Michela M; Zampiga, Valentina V; Cangini, Ilaria I; Danesi, Rita R; Arcangeli, Valentina V; Ravegnani, Mila M; Abou Khouzam, Raefa R; Molinari, Chiara C; Oliveira, Carla C; Morgagni, Paolo P; Saragoni, Luca L; Bencivenga, Maria M; Ulivi, Paola P; Amadori, Dino D; Martinelli, Giovanni G; Falcini, Fabio F; Ranzani, Guglielmina Nadia GN; Calistri, Daniele D
Publication Date: 2019-09-11

Variant appearance in text: RET: 1997A>T; Lys666Met; rs377767439
PubMed Link: 31514334
Variant Present in the following documents:
  • cancers-11-01340-s001.pdf
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: K666M
PubMed Link: 30624503
Variant Present in the following documents:
  • Main text
  • 2359-4292-aem-62-06-0623.pdf
View BVdb publication page



Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation.

Thyroid : Official Journal Of The American Thyroid Association
Xu, Jian Yu JY; Grubbs, Elizabeth G EG; Waguespack, Steven G SG; Jimenez, Camilo C; Gagel, Robert F RF; Sosa, Julie A JA; Sellin, Rena V RV; Dadu, Ramona R; Hu, Mimi I MI; Trotter, Chardria S CS; Jackson, Michelle M; Rich, Thereasa A TA; Hyde, Samuel M SM; Sherman, Steven I SI; Cote, Gilbert J GJ
Publication Date: 2016-12

Variant appearance in text: MEN2A: K666M
PubMed Link: 27673361
Variant Present in the following documents:
  • Main text
View BVdb publication page



A patient with MEN1 typical features and MEN2-like features.

International Journal Of Endocrine Oncology
El-Maouche, Diala D; Welch, James J; Agarwal, Sunita K SK; Weinstein, Lee S LS; Simonds, William F WF; Marx, Stephen J SJ
Publication Date: 2016-05

Variant appearance in text: RET: K666M
PubMed Link: 27594983
Variant Present in the following documents:
  • Main text
View BVdb publication page