RET c.1538C>T ;(p.A513V)

Variant ID: 10-43607562-C-T

NM_020975.4(RET):c.1538C>T;(p.A513V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Jama Network Open
Liu, Ze-Xian ZX; Zhang, Xiao-Long XL; Zhao, Qi Q; Chen, Yungchang Y; Sheng, Hui H; He, Cai-Yun CY; Sun, Yu-Ting YT; Lai, Ming-Yu MY; Wu, Min-Qing MQ; Zuo, Zhi-Xiang ZX; Wang, Wei W; Zhou, Zhi-Wei ZW; Wang, Feng-Hua FH; Li, Yu-Hong YH; Xu, Rui-Hua RH; Qiu, Miao-Zhen MZ
Publication Date: 2022-12-01

Variant appearance in text: RET: A513V
PubMed Link: 36484990
Variant Present in the following documents:
  • jamanetwopen-e2245836-s002.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 pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases.

Scientific Reports
Trautmann, Marcel M; Rehkämper, Jan J; Gevensleben, Heidrun H; Becker, Jessica J; Wardelmann, Eva E; Hartmann, Wolfgang W; Grünewald, Inga I; Huss, Sebastian S
Publication Date: 2020-02-25

Variant appearance in text: RET: A513V
PubMed Link: 32099073
Variant Present in the following documents:
  • 41598_2020_60237_MOESM1_ESM.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: RET: A513V
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 32
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 24
View BVdb publication page



Prognostic significance of frequent CLDN18-ARHGAP26/6 fusion in gastric signet-ring cell cancer.

Nature Communications
Shu, Yang Y; Zhang, Weihan W; Hou, Qianqian Q; Zhao, Linyong L; Zhang, Shouyue S; Zhou, Jiankang J; Song, Xiaohai X; Zhang, Yan Y; Jiang, Dan D; Chen, Xinzu X; Wang, Peiqi P; Xia, Xuyang X; Liao, Fei F; Yin, Dandan D; Chen, Xiaolong X; Zhou, Xueyan X; Zhang, Duyu D; Yin, Senlin S; Yang, Kun K; Liu, Jianping J; Fu, Leilei L; Zhang, Lan L; Wang, Yuelan Y; Zhang, Junlong J; An, Yunfei Y; Cheng, Hua H; Zheng, Bin B; Sun, Hongye H; Zhao, Yinglan Y; Wang, Yongsheng Y; Xie, Dan D; Ouyang, Liang L; Wang, Ping P; Zhang, Wei W; Qiu, Meng M; Fu, Xianghui X; Dai, Lunzhi L; He, Gu G; Yang, Hanshuo H; Cheng, Wei W; Yang, Li L; Liu, Bo B; Li, Weimin W; Dong, Biao B; Zhou, Zongguang Z; Wei, Yuquan Y; Peng, Yong Y; Xu, Heng H; Hu, Jiankun J
Publication Date: 2018-06-30

Variant appearance in text: RET: A513V
PubMed Link: 29961079
Variant Present in the following documents:
  • 41467_2018_4907_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page