RET c.3047T>C ;(p.L1016S)

Variant ID: 10-43622030-T-C

NM_020975.4(RET):c.3047T>C;(p.L1016S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Significant response to pralsetinib in a medullary thyroid cancer harboring double RET variants of unknown significance.

European Thyroid Journal
Hescot, Ségolène S; Masliah-Planchon, Julien J; du Rusquec, Pauline P; Dupain, Célia C; Kamal, Maud M; Servois, Vincent V; Bieche, Ivan I
Publication Date: 2022-10-01

Variant appearance in text: RET: 3047T>C; Leu1016Ser
PubMed Link: 36053791
Variant Present in the following documents:
  • Main text
  • ETJ-22-0044.pdf
View BVdb publication page



Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma.

International Journal Of Genomics
Urbini, Milena M; Nannini, Margherita M; Astolfi, Annalisa A; Indio, Valentina V; Vicennati, Valentina V; De Luca, Matilde M; Tarantino, Giuseppe G; Corso, Federica F; Saponara, Maristella M; Gatto, Lidia L; Santini, Donatella D; Di Dalmazi, Guido G; Pagotto, Uberto U; Pasquali, Renato R; Pession, Andrea A; Biasco, Guido G; Pantaleo, Maria A MA
Publication Date: 2018

Variant appearance in text: RET: 3047T>C
PubMed Link: 30211214
Variant Present in the following documents:
  • IJG2018-6582014.pdf
View BVdb publication page



Functional germline variants as potential co-oncogenes.

Npj Breast Cancer
Agarwal, Divyansh D; Nowak, Christoph C; Zhang, Nancy R NR; Pusztai, Lajos L; Hatzis, Christos C
Publication Date: 2017

Variant appearance in text: RET: L1016S
PubMed Link: 29177190
Variant Present in the following documents:
  • Main text
  • 41523_2017_Article_51.pdf
View BVdb publication page