RET c.1538C>G ;(p.A513G)

Variant ID: 10-43607562-C-G

NM_020975.4(RET):c.1538C>G;(p.A513G)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Surgical treatment of ductal biliary recurrence of poorly cohesive gastric cancer mimicking primary biliary tract cancer: a case report.

Journal Of Surgical Case Reports
Poletto, Edoardo E; Ruzzenente, Andrea A; Turri, Giulia G; Conci, Simone S; Ammendola, Serena S; Luchini, Claudio C; Scarpa, Aldo A; Guglielmi, Alfredo A
Publication Date: 2022-04

Variant appearance in text: RET: A513G
PubMed Link: 35422987
Variant Present in the following documents:
  • rjac132.pdf
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: RET: 1538C>G; Ala513Gly; rs149238501
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg
Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T
Publication Date: 2021-08

Variant appearance in text: RET: 1538C>G; Ala513Gly; rs149238501
PubMed Link: 33840814
Variant Present in the following documents:
  • 41431_2021_878_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Pembrolizumab Activity in Recurrent High-Grade Gliomas with Partial or Complete Loss of Mismatch Repair Protein Expression: A Monocentric, Observational and Prospective Pilot Study.

Cancers
Lombardi, Giuseppe G; Barresi, Valeria V; Indraccolo, Stefano S; Simbolo, Michele M; Fassan, Matteo M; Mandruzzato, Susanna S; Simonelli, Matteo M; Caccese, Mario M; Pizzi, Marco M; Fassina, Arianna A; Padovan, Marta M; Masetto, Elena E; Gardiman, Marina Paola MP; Bonavina, Maria Giuseppina MG; Caffo, Maria M; Persico, Pasquale P; Chioffi, Franco F; Denaro, Luca L; Dei Tos, Angelo Paolo AP; Scarpa, Aldo A; Zagonel, Vittorina V
Publication Date: 2020-08-14

Variant appearance in text: rs149238501
PubMed Link: 32823925
Variant Present in the following documents:
  • Main text
  • cancers-12-02283.pdf
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: A513G
PubMed Link: 30911297
Variant Present in the following documents:
  • Main text
  • IJE2019-9421079.pdf
View BVdb publication page



Prognostic Impact of miR-224 and RAS Mutations in Medullary Thyroid Carcinoma.

International Journal Of Endocrinology
Cavedon, Elisabetta E; Barollo, Susi S; Bertazza, Loris L; Pennelli, Gianmaria G; Galuppini, Francesca F; Watutantrige-Fernando, Sara S; Censi, Simona S; Iacobone, Maurizio M; Benna, Clara C; Vianello, Federica F; Zovato, Stefania S; Nacamulli, Davide D; Mian, Caterina C
Publication Date: 2017

Variant appearance in text: RET: A513G
PubMed Link: 28676824
Variant Present in the following documents:
  • Main text
  • IJE2017-4915736.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: A513G
PubMed Link: 25425582
Variant Present in the following documents:
  • supp_ERC-14-0491_Supplementary_table_4.xlsx, sheet 1
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: A513G
PubMed Link: 22747440
Variant Present in the following documents:
  • Main text
View BVdb publication page