Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: CEP135: 2990C>T; S997L

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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Analysis of the "centrosome-ome" identifies MCPH1 deletion as a cause of centrosome amplification in human cancer.

Scientific Reports

Denu, Ryan A RA; Burkard, Mark E ME

Publication Date: 2020-07-17

Variant appearance in text: CEP135: S997L

PubMed Link: 32681070

Variant Present in the following documents:

• 41598_2020_68629_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: CEP135: S997L

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: CEP135: S997L

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 12

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: CEP135: S997L

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: CEP135: S997L; rs146076380

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: CEP135: S997L; rs146076380

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J

Publication Date: 2018-06-08

Variant appearance in text: CEP135: 2990C>T; S997L; rs146076380

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s004.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CEP135: 2990C>T; Ser997Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.

Nature Communications

Chang, Jiang J; Tan, Wenle W; Ling, Zhiqiang Z; Xi, Ruibin R; Shao, Mingming M; Chen, Mengjie M; Luo, Yingying Y; Zhao, Yanjie Y; Liu, Yun Y; Huang, Xiancong X; Xia, Yuchao Y; Hu, Jinlin J; Parker, Joel S JS; Marron, David D; Cui, Qionghua Q; Peng, Linna L; Chu, Jiahui J; Li, Hongmin H; Du, Zhongli Z; Han, Yaling Y; Tan, Wen W; Liu, Zhihua Z; Zhan, Qimin Q; Li, Yun Y; Mao, Weimin W; Wu, Chen C; Lin, Dongxin D

Publication Date: 2017-05-26

Variant appearance in text: CEP135: Ser997Leu

PubMed Link: 28548104

Variant Present in the following documents:

• ncomms15290-s4.xlsx, sheet 1

View BVdb publication page

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: CEP135: S997L

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CEP135: 2990C>T; S997L

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Nature Communications

Bizet, Albane A AA; Becker-Heck, Anita A; Ryan, Rebecca R; Weber, Kristina K; Filhol, Emilie E; Krug, Pauline P; Halbritter, Jan J; Delous, Marion M; Lasbennes, Marie-Christine MC; Linghu, Bolan B; Oakeley, Edward J EJ; Zarhrate, Mohammed M; Nitschké, Patrick P; Garfa-Traore, Meriem M; Serluca, Fabrizio F; Yang, Fan F; Bouwmeester, Tewis T; Pinson, Lucile L; Cassuto, Elisabeth E; Dubot, Philippe P; Elshakhs, Neveen A Soliman NAS; Sahel, José A JA; Salomon, Rémi R; Drummond, Iain A IA; Gubler, Marie-Claire MC; Antignac, Corinne C; Chibout, Salahdine S; Szustakowski, Joseph D JD; Hildebrandt, Friedhelm F; Lorentzen, Esben E; Sailer, Andreas W AW; Benmerah, Alexandre A; Saint-Mezard, Pierre P; Saunier, Sophie S

Publication Date: 2015-10-21

Variant appearance in text: CEP135: 2990C>T; S997L; rs146076380

PubMed Link: 26487268

Variant Present in the following documents:

• ncomms9666-s1.pdf

View BVdb publication page

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