TSC2 c.521C>T ;(p.S174L)

Variant ID: 16-2105442-C-T

NM_000548.3(TSC2):c.521C>T;(p.S174L)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)
Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q
Publication Date: 2022-10

Variant appearance in text: TSC2: S174L
PubMed Link: 35926241
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: TSC2: 521C>T; S174L
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

World Journal Of Gastroenterology
Gu, Guo-Li GL; Zhang, Zhi Z; Zhang, Yu-Hui YH; Yu, Peng-Fei PF; Dong, Zhi-Wei ZW; Yang, Hai-Rui HR; Yuan, Ying Y
Publication Date: 2021-10-21

Variant appearance in text: TSC2: 521C>T; S174L
PubMed Link: 34754157
Variant Present in the following documents:
  • Main text
  • WJG-27-6631.pdf
View BVdb publication page



Improved Treatment Outcomes by Using Patient Specific Drug Combinations in Mammalian Target of Rapamycin Activated Advanced Metastatic Cancers.

Frontiers In Pharmacology
Crook, Timothy T; Patil, Darshana D; Gaya, Andrew A; Plowman, Nicholas N; Limaye, Sewanti S; Ranade, Anantbhushan A; Bhatt, Amit A; Page, Raymond R; Akolkar, Dadasaheb D
Publication Date: 2021

Variant appearance in text: TSC2: S174L
PubMed Link: 33935721
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: TSC2: 521C>T; S174L
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: TSC2: 521C>T; S174L
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



FGFR aberrations increase the risk of brain metastases and predict poor prognosis in metastatic breast cancer patients.

Therapeutic Advances In Medical Oncology
Xie, Ning N; Tian, Can C; Wu, Hui H; Yang, Xiaohong X; Liu, Liping L; Li, Jing J; Xiao, Huawu H; Gao, Jianxiang J; Lu, Jun J; Hu, Xuming X; Cao, Min M; Shui, Zhengrong Z; Tang, Yu Y; Wang, Xiao X; Yang, Jianbo J; Hu, Zhe-Yu ZY; Ouyang, Quchang Q
Publication Date: 2020

Variant appearance in text: TSC2: S174L
PubMed Link: 32499836
Variant Present in the following documents:
  • Table_S5-brain.pdf
View BVdb publication page



Integrative -omics and HLA-ligandomics analysis to identify novel drug targets for ccRCC immunotherapy.

Genome Medicine
Reustle, Anna A; Di Marco, Moreno M; Meyerhoff, Carolin C; Nelde, Annika A; Walz, Juliane S JS; Winter, Stefan S; Kandabarau, Siahei S; Büttner, Florian F; Haag, Mathias M; Backert, Linus L; Kowalewski, Daniel J DJ; Rausch, Steffen S; Hennenlotter, Jörg J; Stühler, Viktoria V; Scharpf, Marcus M; Fend, Falko F; Stenzl, Arnulf A; Rammensee, Hans-Georg HG; Bedke, Jens J; Stevanović, Stefan S; Schwab, Matthias M; Schaeffeler, Elke E
Publication Date: 2020-03-30

Variant appearance in text: rs747538587
PubMed Link: 32228647
Variant Present in the following documents:
  • 13073_2020_731_MOESM2_ESM.pdf
View BVdb publication page



TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: TSC2: S174L; rs747538587
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 6
  • pcbi.1007453.s002.xlsx, sheet 1
  • pcbi.1007453.s004.xlsx, sheet 2
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: TSC2: S174L
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page