Publications:

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: TERT: E280K; rs199701877

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 19

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: TERT: E280K

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology

Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y

Publication Date: 2022

Variant appearance in text: TERT: E280K; rs199701877

PubMed Link: 35966080

Variant Present in the following documents:

• Table_1.xlsx, sheet 5

View BVdb publication page

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Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.

Frontiers In Oncology

Kim, Junhyung J; Hwang, Kihwan K; Kwon, Hyun Jung HJ; Lee, Ji Eun JE; Lee, Kyu Sang KS; Choe, Gheeyoung G; Han, Jung Ho JH; Kim, Chae-Yong CY

Publication Date: 2022

Variant appearance in text: TERT: 838G>A; E280K; rs199701877

PubMed Link: 35774130

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 2

View BVdb publication page

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: TERT: 838G>A; rs199701877

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

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Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature Communications

Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D

Publication Date: 2022-04-21

Variant appearance in text: TERT: E280K

PubMed Link: 35449156

Variant Present in the following documents:

• 41467_2022_29857_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: TERT: E280K

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4

View BVdb publication page

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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: TERT: 838G>A; E280K

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications

Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK

Publication Date: 2020-11-10

Variant appearance in text: TERT: E280K

PubMed Link: 33172502

Variant Present in the following documents:

• 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: TERT: E280K

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: TERT: 838G>A; Glu280Lys; rs199701877

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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The Rare Variant rs35356162 in UHRF1BP1 Increases Bladder Cancer Risk in Han Chinese Population.

Frontiers In Oncology

Wu, Junlong J; Wang, Meilin M; Chen, Haitao H; Xu, Jianfeng J; Zhang, Guiming G; Gu, Chengyuan C; Ding, Qiang Q; Wei, Qingyi Q; Zhu, Yao Y; Ye, Dingwei D

Publication Date: 2020

Variant appearance in text: rs199701877

PubMed Link: 32117775

Variant Present in the following documents:

• Main text
• fonc-10-00134.pdf

View BVdb publication page

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A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract.

Bmc Medical Genetics

Fan, Qi Q; Li, Dan D; Cai, Lei L; Qiu, Xiaodi X; Zhao, Zhennan Z; Wu, Jihong J; Yang, Jin J; Lu, Yi Y

Publication Date: 2019-03-20

Variant appearance in text: TERT: 838G>A; E280K; rs199701877

PubMed Link: 30894134

Variant Present in the following documents:

• 12881_2019_782_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Plos One

Kim, Borahm B; Lee, Hyeonah H; Jang, Jieun J; Kim, Soo-Jeong SJ; Lee, Seung-Tae ST; Cheong, June-Won JW; Lyu, Chuhl Joo CJ; Min, Yoo Hong YH; Choi, Jong Rak JR

Publication Date: 2019

Variant appearance in text: TERT: 838G>A; Glu280Lys

PubMed Link: 30840646

Variant Present in the following documents:

• pone.0212228.s004.pdf

View BVdb publication page

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The Spectrum of Hepatic Involvement in Patients With Telomere Disease.

Hepatology (Baltimore, Md.)

Kapuria, Devika D; Ben-Yakov, Gil G; Ortolano, Rebecca R; Cho, Min Ho MH; Kalchiem-Dekel, Or O; Takyar, Varun V; Lingala, Shilpa S; Gara, Naveen N; Tana, Michele M; Kim, Yun Ju YJ; Kleiner, David E DE; Young, Neal S NS; Townsley, Danielle M DM; Koh, Christopher C; Heller, Theo T

Publication Date: 2019-06

Variant appearance in text: TERT: 838G>A; Glu280Lys

PubMed Link: 30791107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: TERT: E280K

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 2
• mmc6.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: TERT: 838G>A; E280K; rs199701877

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Pathogenic TERT promoter variants in telomere diseases.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Gutierrez-Rodrigues, Fernanda F; Donaires, Flávia S FS; Pinto, André A; Vicente, Alana A; Dillon, Laura W LW; Clé, Diego V DV; Santana, Barbara A BA; Pirooznia, Mehdi M; Ibanez, Maria Del Pilar F MDPF; Townsley, Danielle M DM; Kajigaya, Sachiko S; Hourigan, Christopher S CS; Cooper, James N JN; Calado, Rodrigo T RT; Young, Neal S NS

Publication Date: 2019-07

Variant appearance in text: TERT: 838G>A; E280K

PubMed Link: 30523342

Variant Present in the following documents:

• 41436_2018_385_MOESM1_ESM.pdf

View BVdb publication page

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Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging

Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,

Publication Date: 2016-12

Variant appearance in text: TERT: E280K

PubMed Link: 27640074

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: TERT: E280K

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s2.xlsx, sheet 5

View BVdb publication page

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Danazol Treatment for Telomere Diseases.

The New England Journal Of Medicine

Townsley, Danielle M DM; Dumitriu, Bogdan B; Liu, Delong D; Biancotto, Angélique A; Weinstein, Barbara B; Chen, Christina C; Hardy, Nathan N; Mihalek, Andrew D AD; Lingala, Shilpa S; Kim, Yun Ju YJ; Yao, Jianhua J; Jones, Elizabeth E; Gochuico, Bernadette R BR; Heller, Theo T; Wu, Colin O CO; Calado, Rodrigo T RT; Scheinberg, Phillip P; Young, Neal S NS

Publication Date: 2016-05-19

Variant appearance in text: TERT: Glu280Lys

PubMed Link: 27192671

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of population-based variation and putative functional elements for the multiple-cancer susceptibility loci at 5p15.33.

F1000Research

Mirabello, Lisa L; Chung, Charles C CC; Yeager, Meredith M; Savage, Sharon A SA

Publication Date: 2014

Variant appearance in text: rs199701877

PubMed Link: 26664699

Variant Present in the following documents:

• f1000research-3-5532.pdf

View BVdb publication page

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Association between TERT promoter polymorphisms and acute myeloid leukemia risk and prognosis.

Oncotarget

Mosrati, Mohamed Ali MA; Willander, Kerstin K; Falk, Ingrid Jakobsen IJ; Hermanson, Monica M; Höglund, Martin M; Stockelberg, Dick D; Wei, Yuan Y; Lotfi, Kourosh K; Söderkvist, Peter P

Publication Date: 2015-09-22

Variant appearance in text: TERT: Glu280Lys

PubMed Link: 26298771

Variant Present in the following documents:

• Main text
• oncotarget-06-25109.pdf

View BVdb publication page

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