TSC2 c.3094C>T ;(p.R1032*)

Variant ID: 16-2129160-C-T

NM_000548.3(TSC2):c.3094C>T;(p.R1032*)

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24

Variant appearance in text: TSC2: 3094C>T; Arg1032Ter
PubMed Link: 36693175
Variant Present in the following documents:
  • ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3
View BVdb publication page



ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Publication Date: 2023-01-03

Variant appearance in text: TSC2: 3094C>T; R1032*; rs45465195
PubMed Link: 36595552
Variant Present in the following documents:
  • pgen.1010563.s004.xlsx, sheet 1
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: TSC2: R1032X
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: TSC2: 3094C>T; R1032*
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.

Bmc Pulmonary Medicine
Huang, Jiannan J; Xu, Wenshuai W; Liu, Peng P; Liu, Yaping Y; Shen, Cheng C; Liu, Song S; Wang, Yani Y; Wang, Jun J; Zhang, Tengyue T; He, Yudi Y; Cheng, Chongsheng C; Yang, Luning L; Zhang, Weihong W; Tian, Xinlun X; Xu, Kai-Feng KF
Publication Date: 2022-09-18

Variant appearance in text: TSC2: 3094C>T; R1032X
PubMed Link: 36117164
Variant Present in the following documents:
  • 12890_2022_2154_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: TSC2: R1032*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation
Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ
Publication Date: 2022-05-16

Variant appearance in text: TSC2: 3094C>T; Arg1032*
PubMed Link: 35358092
Variant Present in the following documents:
  • jci-132-155858-s186.xlsx, sheet 1
View BVdb publication page



Morphologic, Immunohistochemical, and Genetic Differences Between High-grade and Low-grade Fetal Adenocarcinomas of the Lung.

The American Journal Of Surgical Pathology
Li, Yue Y; Xi, Shao-Yan SY; Yong, Juan-Juan JJ; Wu, Xiao-Yan XY; Yang, Xin-Hua XH; Wang, Fang F
Publication Date: 2021-11-01

Variant appearance in text: TSC2: R1032*
PubMed Link: 34138800
Variant Present in the following documents:
  • Main text
  • pas-45-1464.pdf
View BVdb publication page



Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer.

Plos One
Mrozek, Evelyn M EM; Bajaj, Vineeta V; Guo, Yanan Y; Malinowska, Izabela A IA; Zhang, Jianming J; Kwiatkowski, David J DJ
Publication Date: 2021

Variant appearance in text: TSC2: 3094C>T; Arg1032*
PubMed Link: 33891611
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: 3094C>T; R1032*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: TSC2: R1032*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s003.xlsx, sheet 1
View BVdb publication page



Downregulated GPR30 expression in the epileptogenic foci of female patients with focal cortical dysplasia type IIb and tuberous sclerosis complex is correlated with 18 F-FDG PET-CT values.

Brain Pathology (Zurich, Switzerland)
Wang, Zhongke Z; Huang, Kaixuan K; Yang, Xiaolin X; Shen, Kaifeng K; Yang, Ling L; Ruan, Ruotong R; Shi, Xianjun X; Wang, Miao M; Zhu, Gang G; Yang, Meihua M; Zhang, Chunqing C; Lv, Shengqing S; Yang, Hui H; Fan, Xiaotang X; Liu, Shiyong S
Publication Date: 2021-03

Variant appearance in text: TSC2: R1032X
PubMed Link: 33314369
Variant Present in the following documents:
  • Main text
  • BPA-31-346.pdf
View BVdb publication page



Single-Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell.

American Journal Of Respiratory And Critical Care Medicine
Guo, Minzhe M; Yu, Jane J JJ; Perl, Anne Karina AK; Wikenheiser-Brokamp, Kathryn A KA; Riccetti, Matt M; Zhang, Erik Y EY; Sudha, Parvathi P; Adam, Mike M; Potter, Andrew A; Kopras, Elizabeth J EJ; Giannikou, Krinio K; Potter, S Steven SS; Sherman, Sue S; Hammes, Stephen R SR; Kwiatkowski, David J DJ; Whitsett, Jeffrey A JA; McCormack, Francis X FX; Xu, Yan Y
Publication Date: 2020-11-15

Variant appearance in text: TSC2: 3094C>T; Arg1032*
PubMed Link: 32603599
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports
Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB
Publication Date: 2020-06-18

Variant appearance in text: TSC2: 3094C>T; Arg1032*
PubMed Link: 32555378
Variant Present in the following documents:
  • 41598_2020_66588_MOESM1_ESM.pdf
View BVdb publication page



First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Scientific Reports
Reyna-Fabián, Miriam E ME; Hernández-Martínez, Nancy L NL; Alcántara-Ortigoza, Miguel A MA; Ayala-Sumuano, Jorge T JT; Enríquez-Flores, Sergio S; Velázquez-Aragón, José A JA; Varela-Echavarría, Alfredo A; Todd-Quiñones, Carlos G CG; González-Del Angel, Ariadna A
Publication Date: 2020-04-20

Variant appearance in text: TSC2: 3094C>T; rs45465195
PubMed Link: 32313033
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_62759.pdf
View BVdb publication page



Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging
Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y
Publication Date: 2020-01-12

Variant appearance in text: TSC2: 3094C>T
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page



Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus.

Cancer Biology & Therapy
Wang, Tao T; Xie, Shunqiang S; Luo, Rongtuan R; Shi, Lianguo L; Bai, Peide P; Wang, Xuegang X; Wan, Rui R; Deng, Jiang J; Wu, Zhun Z; Li, Wei W; Xiao, Wen W; Wang, Yongfeng Y; Chen, Bin B; Zhang, Kaiyan K; Xing, Jinchun J
Publication Date: 2020

Variant appearance in text: TSC2: 3094C>T
PubMed Link: 31597506
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: TSC2: 3094C>T; Arg1032Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.

Human Molecular Genetics
Armstrong, Laura C LC; Westlake, Grant G; Snow, John P JP; Cawthon, Bryan B; Armour, Eric E; Bowman, Aaron B AB; Ess, Kevin C KC
Publication Date: 2017-12-01

Variant appearance in text: TSC2: Arg1032Ter
PubMed Link: 28973543
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genomic landscape of tuberous sclerosis complex.

Nature Communications
Martin, Katie R KR; Zhou, Wanding W; Bowman, Megan J MJ; Shih, Juliann J; Au, Kit Sing KS; Dittenhafer-Reed, Kristin E KE; Sisson, Kellie A KA; Koeman, Julie J; Weisenberger, Daniel J DJ; Cottingham, Sandra L SL; DeRoos, Steven T ST; Devinsky, Orrin O; Winn, Mary E ME; Cherniack, Andrew D AD; Shen, Hui H; Northrup, Hope H; Krueger, Darcy A DA; MacKeigan, Jeffrey P JP
Publication Date: 2017-06-15

Variant appearance in text: TSC2: 3094C>T; Arg1032Ter
PubMed Link: 28643795
Variant Present in the following documents:
  • ncomms15816-s3.xlsx, sheet 1
View BVdb publication page



Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.

International Journal Of Biological Sciences
Chou, Wen-Chi WC; Lin, Po-Han PH; Yeh, Yi-Chen YC; Shyr, Yi-Ming YM; Fang, Wen-Liang WL; Wang, Shin-E SE; Liu, Chun-Yu CY; Chang, Peter Mu-Hsin PM; Chen, Ming-Han MH; Hung, Yi-Ping YP; Li, Chung-Pin CP; Chao, Yee Y; Chen, Ming-Huang MH
Publication Date: 2016

Variant appearance in text: TSC2: R1032X
PubMed Link: 27994516
Variant Present in the following documents:
  • ijbsv12p1523s1.xls, sheet 1
View BVdb publication page



Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget
Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD
Publication Date: 2015-08-21

Variant appearance in text: TSC2: R1032X; rs45465195
PubMed Link: 26062443
Variant Present in the following documents:
  • oncotarget-06-20160-s004.xlsx, sheet 1
View BVdb publication page



Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg
Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR
Publication Date: 2015-12

Variant appearance in text: TSC2: 3094C>T; Arg1032*
PubMed Link: 25782670
Variant Present in the following documents:
  • ejhg201547x1.xls, sheet 1
View BVdb publication page



Mutation profiling in cholangiocarcinoma: prognostic and therapeutic implications.

Plos One
Churi, Chaitanya R CR; Shroff, Rachna R; Wang, Ying Y; Rashid, Asif A; Kang, HyunSeon C HC; Weatherly, Jacqueline J; Zuo, Mingxin M; Zinner, Ralph R; Hong, David D; Meric-Bernstam, Funda F; Janku, Filip F; Crane, Christopher H CH; Mishra, Lopa L; Vauthey, Jean-Nicholas JN; Wolff, Robert A RA; Mills, Gordon G; Javle, Milind M
Publication Date: 2014

Variant appearance in text: TSC2: R1032*
PubMed Link: 25536104
Variant Present in the following documents:
  • pone.0115383.s001.xlsx, sheet 1
View BVdb publication page



A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

Human Molecular Genetics
Tyburczy, Magdalena E ME; Jozwiak, Sergiusz S; Malinowska, Izabela A IA; Chekaluk, Yvonne Y; Pugh, Trevor J TJ; Wu, Chin-Lee CL; Nussbaum, Robert L RL; Seepo, Sara S; Dzik, Tomasz T; Kotulska, Katarzyna K; Kwiatkowski, David J DJ
Publication Date: 2015-04-01

Variant appearance in text: TSC2: 3094C>T; R1032*
PubMed Link: 25432535
Variant Present in the following documents:
  • Main text
View BVdb publication page