RET c.1042C>T ;(p.R348W)

Variant ID: 10-43601998-C-T

NM_020975.4(RET):c.1042C>T;(p.R348W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Bmc Cancer
Mei, Zhu Z; Shao, Yang W YW; Lin, Peinan P; Cai, Xiaomin X; Wang, Biao B; Ding, Yan Y; Ma, Xiangyuan X; Wu, Xue X; Xia, Yewei Y; Zhu, Dongqin D; Shu, Yongqian Y; Fu, Zan Z; Gu, Yanhong Y
Publication Date: 2018-04-27

Variant appearance in text: RET: R348W
PubMed Link: 29703253
Variant Present in the following documents:
  • 12885_2018_4298_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: RET: 1042C>T; R348W
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.

Bmc Medical Genetics
Núñez-Torres, Rocio R; Fernández, Raquel M RM; Acosta, Manuel Jesus MJ; Enguix-Riego, Maria Del Valle Mdel V; Marbá, Martina M; Carlos de Agustín, Juan J; Castaño, Luis L; Antiñolo, Guillermo G; Borrego, Salud S
Publication Date: 2011-10-13

Variant appearance in text: RET: 1042C>T; Arg348Trp
PubMed Link: 21995290
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-138.pdf
View BVdb publication page