Publications:

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Dynamics of Sequence and Structural Cell-Free DNA Landscapes in Small-Cell Lung Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Sivapalan, Lavanya L; Iams, Wade T WT; Belcaid, Zineb Z; Scott, Susan C SC; Niknafs, Noushin N; Balan, Archana A; White, James R JR; Kopparapu, Prasad P; Cann, Christopher C; Landon, Blair V BV; Pereira, Gavin G; Velculescu, Victor E VE; Hann, Christine L CL; Lovly, Christine M CM; Anagnostou, Valsamo V

Publication Date: 2023-04-18

Variant appearance in text: GNAS: Q227L

PubMed Link: 37071497

Variant Present in the following documents:

• ccr-22-2242_ts1-9_suppts1-9.xlsx, sheet 6

View BVdb publication page

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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: GNAS: 680A>T; Q227L

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 3
• Table_2.xlsx, sheet 2

View BVdb publication page

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Transcriptomic Classification of Pituitary Neuroendocrine Tumors Causing Acromegaly.

Cells

Rymuza, Julia J; Kober, Paulina P; Rusetska, Natalia N; Mossakowska, Beata J BJ; Maksymowicz, Maria M; Nyc, Aleksandra A; Baluszek, Szymon S; Zieliński, Grzegorz G; Kunicki, Jacek J; Bujko, Mateusz M

Publication Date: 2022-11-30

Variant appearance in text: GNAS: Q227L

PubMed Link: 36497102

Variant Present in the following documents:

• Main text
• cells-11-03846.pdf

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Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Molecular Oncology

Nguyen Hoang, Van-Anh VA; Nguyen, Sao Trung ST; Nguyen, Trieu Vu TV; Pham, Thanh Huyen TH; Doan, Phuoc Loc PL; Nguyen Thi, Ngoc Thanh NT; Nguyen, Minh Long ML; Dinh, Thi Cuc TC; Pham, Dinh Hoang DH; Nguyen, Ngoc Mai NM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do, Thanh Thuy Thi TTT; Truong, Dinh Kiet DK; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN

Publication Date: 2022-12-10

Variant appearance in text: GNAS: Q227L

PubMed Link: 36495126

Variant Present in the following documents:

• MOL2-17-598-s002.xlsx, sheet 1

View BVdb publication page

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Proteogenomic landscape and clinical characterization of GH-producing pituitary adenomas/somatotroph pituitary neuroendocrine tumors.

Communications Biology

Yamato, Azusa A; Nagano, Hidekazu H; Gao, Yue Y; Matsuda, Tatsuma T; Hashimoto, Naoko N; Nakayama, Akitoshi A; Yamagata, Kazuyuki K; Yokoyama, Masataka M; Gong, Yingbo Y; Shi, Xiaoyan X; Zhahara, Siti Nurul SN; Kono, Takashi T; Taki, Yuki Y; Furuki, Naoto N; Nishimura, Motoi M; Horiguchi, Kentaro K; Iwadate, Yasuo Y; Fukuyo, Masaki M; Rahmutulla, Bahityar B; Kaneda, Atsushi A; Hasegawa, Yoshinori Y; Kawashima, Yusuke Y; Ohara, Osamu O; Ishikawa, Tetsuo T; Kawakami, Eiryo E; Nakamura, Yasuhiro Y; Inoshita, Naoko N; Yamada, Shozo S; Fukuhara, Noriaki N; Nishioka, Hiroshi H; Tanaka, Tomoaki T

Publication Date: 2022-11-27

Variant appearance in text: GNAS: Q227L

PubMed Link: 36435867

Variant Present in the following documents:

• Main text
• 42003_2022_4272_MOESM4_ESM.xlsx, sheet 1
• 42003_2022_Article_4272.pdf
• 42003_2022_4272_MOESM1_ESM.pdf

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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs121913494

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

View BVdb publication page

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CC Genotype of GNAS c.393C>T (rs7121) Polymorphism Has a Protective Effect against Development of BK Viremia and BKV-Associated Nephropathy after Renal Transplant.

Pathogens (Basel, Switzerland)

Peitz, Tobias T; Möhlendick, Birte B; Eisenberger, Ute U; Siffert, Winfried W; Heinemann, Falko Markus FM; Kribben, Andreas A; Friebus-Kardash, Justa J

Publication Date: 2022-10-01

Variant appearance in text: GNAS: Q227L

PubMed Link: 36297195

Variant Present in the following documents:

• Main text
• pathogens-11-01138.pdf

View BVdb publication page

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State-selective modulation of heterotrimeric Gαs signaling with macrocyclic peptides.

Cell

Dai, Shizhong A SA; Hu, Qi Q; Gao, Rong R; Blythe, Emily E EE; Touhara, Kouki K KK; Peacock, Hayden H; Zhang, Ziyang Z; von Zastrow, Mark M; Suga, Hiroaki H; Shokat, Kevan M KM

Publication Date: 2022-10-13

Variant appearance in text: GNAS: Q227L

PubMed Link: 36170854

Variant Present in the following documents:

• Main text
• nihms-1837800.pdf

View BVdb publication page

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Implementation of a molecular tumour board in LATAM: the impact on treatment decisions for patients evaluated at Instituto Alexander Fleming, Argentina.

Ecancermedicalscience

Angel, Martín Osvaldo MO; Pupareli, Carmen C; Soule, Tomas T; Tsou, Florencia F; Leiva, Mariano M; Losco, Federico F; Esteso, Federico F; O Connor, Juan Manuel JM; Luca, Romina R; Petracci, Fernando F; Girotti, Romina R; Mahmoud, Yamil Damián YD; Martín, Claudio C; Chacón, Matías M

Publication Date: 2021

Variant appearance in text: GNAS: Q227L

PubMed Link: 35047063

Variant Present in the following documents:

• Main text
• can-15-1312.pdf

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Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine

Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021-11

Variant appearance in text: GNAS: 680A>T; Gln227Leu

PubMed Link: 34841677

Variant Present in the following documents:

• CTM2-11-e567-s004.xlsx, sheet 5

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: rs121913494

PubMed Link: 34797250

Variant Present in the following documents:

• ct9-12-e00431-s005.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: GNAS: Q227L

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Intraductal Papillary Mucinous Carcinoma Versus Conventional Pancreatic Ductal Adenocarcinoma: A Comprehensive Review of Clinical-Pathological Features, Outcomes, and Molecular Insights.

International Journal Of Molecular Sciences

Mas, Léo L; Lupinacci, Renato M RM; Cros, Jérôme J; Bachet, Jean-Baptiste JB; Coulet, Florence F; Svrcek, Magali M

Publication Date: 2021-06-23

Variant appearance in text: GNAS: Q227L

PubMed Link: 34201897

Variant Present in the following documents:

• Main text
• ijms-22-06756.pdf

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Large Scale Molecular Studies of Pituitary Neuroendocrine Tumors: Novel Markers, Mechanisms and Translational Perspectives.

Cancers

Peculis, Raitis R; Niedra, Helvijs H; Rovite, Vita V

Publication Date: 2021-03-19

Variant appearance in text: GNAS: Q227L

PubMed Link: 33808624

Variant Present in the following documents:

• Main text
• cancers-13-01395.pdf

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: GNAS: 680A>T; Q227L

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Genomic and transcriptomic analysis of pituitary adenomas reveals the impacts of copy number variations on gene expression and clinical prognosis among prolactin-secreting subtype.

Aging

Chen, Yiyuan Y; Gao, Hua H; Xie, Weiyan W; Guo, Jing J; Fang, Qiuyue Q; Zhao, Peng P; Liu, Chunhui C; Zhu, Haibo H; Wang, Zhuang Z; Wang, Jichao J; Gui, Songbai S; Zhang, Yazhuo Y; Li, Chuzhong C

Publication Date: 2020-12-19

Variant appearance in text: rs121913494

PubMed Link: 33472173

Variant Present in the following documents:

• aging-13-202304-s003.xlsx, sheet 1

View BVdb publication page

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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: GNAS: Q227L

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s002.xlsx, sheet 1

View BVdb publication page

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A Gs-RhoGEF interaction: An old G protein finds a new job.

The Journal Of Biological Chemistry

Slepak, Vladlen Z VZ; Pronin, Alexey A

Publication Date: 2020-12-11

Variant appearance in text: GNAS: Q227L

PubMed Link: 33310745

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: GNAS: 680A>T; Q227L

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Combined Inhibition of Gαq and MEK Enhances Therapeutic Efficacy in Uveal Melanoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Hitchman, Tyler D TD; Bayshtok, Gabriella G; Ceraudo, Emilie E; Moore, Amanda R AR; Lee, Cindy C; Jia, Ruobing R; Wang, Naitao N; Pachai, Mohini R MR; Shoushtari, Alexander N AN; Francis, Jasmine H JH; Guan, Youxin Y; Chen, Juliet J; Chang, Matthew T MT; Taylor, Barry S BS; Sakmar, Thomas P TP; Huber, Thomas T; Chi, Ping P; Chen, Yu Y

Publication Date: 2021-03-01

Variant appearance in text: GNAS: Q227L

PubMed Link: 33229459

Variant Present in the following documents:

• Main text

View BVdb publication page

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Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis.

Acta Neuropathologica Communications

Lasolle, Hélène H; Elsensohn, Mad-Hélénie MH; Wierinckx, Anne A; Alix, Eudeline E; Bonnefille, Clément C; Vasiljevic, Alexandre A; Cortet, Christine C; Decoudier, Bénédicte B; Sturm, Nathalie N; Gaillard, Stephan S; Ferrière, Amandine A; Roy, Pascal P; Jouanneau, Emmanuel E; Bertolino, Philippe P; Bardel, Claire C; Sanlaville, Damien D; Raverot, Gérald G

Publication Date: 2020-11-10

Variant appearance in text: GNAS: Gln227Leu

PubMed Link: 33168091

Variant Present in the following documents:

• Main text
• 40478_2020_Article_1067.pdf

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs121913494

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Gαs directly drives PDZ-RhoGEF signaling to Cdc42.

The Journal Of Biological Chemistry

Castillo-Kauil, Alejandro A; García-Jiménez, Irving I; Cervantes-Villagrana, Rodolfo Daniel RD; Adame-García, Sendi Rafael SR; Beltrán-Navarro, Yarely Mabell YM; Gutkind, J Silvio JS; Reyes-Cruz, Guadalupe G; Vázquez-Prado, José J

Publication Date: 2020-12-11

Variant appearance in text: GNAS: Q227L

PubMed Link: 33023908

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GNAS: Q227L

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: GNAS: 680A>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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G protein-regulated endocytic trafficking of adenylyl cyclase type 9.

Elife

Lazar, André M AM; Irannejad, Roshanak R; Baldwin, Tanya A TA; Sundaram, Aparna B AB; Gutkind, J Silvio JS; Inoue, Asuka A; Dessauer, Carmen W CW; Von Zastrow, Mark M

Publication Date: 2020-06-09

Variant appearance in text: GNAS: Q227L

PubMed Link: 32515353

Variant Present in the following documents:

• Main text
• elife-58039.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: GNAS: Q227L

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune-Albright syndrome and cutaneous skeletal hypophosphatemia syndrome.

European Journal Of Endocrinology

de Castro, Luis F LF; Ovejero, Diana D; Boyce, Alison M AM

Publication Date: 2020-05

Variant appearance in text: GNAS: Q227L

PubMed Link: 32069220

Variant Present in the following documents:

• Main text

View BVdb publication page

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The paradox of cancer genes in non-malignant conditions: implications for precision medicine.

Genome Medicine

Adashek, Jacob J JJ; Kato, Shumei S; Lippman, Scott M SM; Kurzrock, Razelle R

Publication Date: 2020-02-17

Variant appearance in text: GNAS: Q227L

PubMed Link: 32066498

Variant Present in the following documents:

• Main text
• 13073_2020_Article_714.pdf

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: GNAS: 680A>T; Q227L

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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SMARCA4-Deficient Thoracic Sarcomatoid Tumors Represent Primarily Smoking-Related Undifferentiated Carcinomas Rather Than Primary Thoracic Sarcomas.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Rekhtman, Natasha N; Montecalvo, Joseph J; Chang, Jason C JC; Alex, Deepu D; Ptashkin, Ryan N RN; Ai, Ni N; Sauter, Jennifer L JL; Kezlarian, Brie B; Jungbluth, Achim A; Desmeules, Patrice P; Beras, Amanda A; Bishop, Justin A JA; Plodkowski, Andrew J AJ; Gounder, Mrinal M MM; Schoenfeld, Adam J AJ; Namakydoust, Azadeh A; Li, Bob T BT; Rudin, Charles M CM; Riely, Gregory J GJ; Jones, David R DR; Ladanyi, Marc M; Travis, William D WD

Publication Date: 2020-02

Variant appearance in text: GNAS: 680A>T; Q227L

PubMed Link: 31751681

Variant Present in the following documents:

• NIHMS1547998-supplement-1.xlsx, sheet 7

View BVdb publication page

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: GNAS: 680A>T; Q227L

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences

Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ

Publication Date: 2019

Variant appearance in text: GNAS: Gln227Leu

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

View BVdb publication page

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Evaluation of the Possibility to Detect Circulating Tumor DNA From Pituitary Adenoma.

Frontiers In Endocrinology

Megnis, Kaspars K; Peculis, Raitis R; Rovite, Vita V; Laksa, Pola P; Niedra, Helvijs H; Balcere, Inga I; Caune, Olivija O; Breiksa, Austra A; Nazarovs, Jurijs J; Stukens, Janis J; Konrade, Ilze I; Pirags, Valdis V; Klovins, Janis J

Publication Date: 2019

Variant appearance in text: GNAS: 680A>T

PubMed Link: 31620080

Variant Present in the following documents:

• Main text
• fendo-10-00615.pdf

View BVdb publication page

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Rare, functional, somatic variants in gene families linked to cancer genes: GPCR signaling as a paradigm.

Oncogene

Raimondi, Francesco F; Inoue, Asuka A; Kadji, Francois M N FMN; Shuai, Ni N; Gonzalez, Juan-Carlos JC; Singh, Gurdeep G; de la Vega, Alicia Alonso AA; Sotillo, Rocio R; Fischer, Bernd B; Aoki, Junken J; Gutkind, J Silvio JS; Russell, Robert B RB

Publication Date: 2019-09

Variant appearance in text: GNAS: Q227L

PubMed Link: 31337866

Variant Present in the following documents:

• 41388_2019_895_MOESM2_ESM.xlsx, sheet 12

View BVdb publication page

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An Unusual Hybrid Salivary Gland Tumor: Molecular Analysis Informs the Potential Pathogenesis of This Rare Neoplasm.

Case Reports In Pathology

Zhou, Yan Y; Martinez Duarte, Ernesto E; Eleff, David J DJ; Tafe, Laura J LJ; Leibowitz, Jason M JM; Kerr, Darcy A DA

Publication Date: 2019

Variant appearance in text: GNAS: Q227L

PubMed Link: 31032133

Variant Present in the following documents:

• Main text
• CRIPA2019-2713234.pdf

View BVdb publication page

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Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Ebiomedicine

Liu, Xiaoyu X; Liu, Lingxiao L; Ji, Yuan Y; Li, Changyu C; Wei, Tao T; Yang, Xuerong X; Zhang, Yuefang Y; Cai, Xuyu X; Gao, Yangbin Y; Xu, Weihong W; Rao, Shengxiang S; Jin, Dayong D; Lou, Wenhui W; Qiu, Zilong Z; Wang, Xiaolin X

Publication Date: 2019-03

Variant appearance in text: rs121913494

PubMed Link: 30857943

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Study of major genetic factors involved in pituitary tumorigenesis and their impact on clinical and biological characteristics of sporadic somatotropinomas and non-functioning pituitary adenomas.

Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas

Foltran, R K RK; Amorim, P V G H PVGH; Duarte, F H FH; Grande, I P P IPP; Freire, A C T B ACTB; Frassetto, F P FP; Dettoni, J B JB; Alves, V A VA; Castro, I I; Trarbach, E B EB; Bronstein, M D MD; Jallad, R S RS

Publication Date: 2018-06-25

Variant appearance in text: GNAS: Q227L

PubMed Link: 29947650

Variant Present in the following documents:

• Main text
• 1414-431X-bjmbr-51-9-e7427.pdf

View BVdb publication page

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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine

Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F

Publication Date: 2017-10-30

Variant appearance in text: GNAS: 680A>T; Q227L

PubMed Link: 29082853

Variant Present in the following documents:

• 13073_2017_478_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification.

Scientific Reports

Shin, Su-Jin SJ; Lee, Seok Joo SJ; Kim, Sang Kyum SK

Publication Date: 2017-06-06

Variant appearance in text: GNAS: Q227L

PubMed Link: 28588314

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Identification of Oncogenic Drivers and Copy-Number Alterations in Pituitary Tumors.

Endocrinology

Bi, Wenya Linda WL; Greenwald, Noah F NF; Ramkissoon, Shakti H SH; Abedalthagafi, Malak M; Coy, Shannon M SM; Ligon, Keith L KL; Mei, Yu Y; MacConaill, Laura L; Ducar, Matt M; Min, Le L; Santagata, Sandro S; Kaiser, Ursula B UB; Beroukhim, Rameen R; Laws, Edward R ER; Dunn, Ian F IF

Publication Date: 2017-07-01

Variant appearance in text: GNAS: Q227L

PubMed Link: 28486603

Variant Present in the following documents:

• Main text

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Utility of Genomic Analysis in Differentiating Synchronous and Metachronous Lung Adenocarcinomas from Primary Adenocarcinomas with Intrapulmonary Metastasis.

Translational Oncology

Saab, Jad J; Zia, Hamid H; Mathew, Susan S; Kluk, Michael M; Narula, Navneet N; Fernandes, Helen H

Publication Date: 2017-06

Variant appearance in text: GNAS: Q227L

PubMed Link: 28448960

Variant Present in the following documents:

• Main text
• main.pdf

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: GNAS: 680A>T; Q227L

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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The genome-wide mutational landscape of pituitary adenomas.

Cell Research

Song, Zhi-Jian ZJ; Reitman, Zachary J ZJ; Ma, Zeng-Yi ZY; Chen, Jian-Hua JH; Zhang, Qi-Lin QL; Shou, Xue-Fei XF; Huang, Chuan-Xin CX; Wang, Yong-Fei YF; Li, Shi-Qi SQ; Mao, Ying Y; Zhou, Liang-Fu LF; Lian, Bao-Feng BF; Yan, Hai H; Shi, Yong-Yong YY; Zhao, Yao Y

Publication Date: 2016-11

Variant appearance in text: GNAS: Q227L

PubMed Link: 27670697

Variant Present in the following documents:

• Main text
• cr2016114a.pdf

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Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

The Journal Of Pathology. Clinical Research

Presneau, Nadège N; Baumhoer, Daniel D; Behjati, Sam S; Pillay, Nischalan N; Tarpey, Patrick P; Campbell, Peter J PJ; Jundt, Gernot G; Hamoudi, Rifat R; Wedge, David C DC; Loo, Peter Van PV; Hassan, A Bassim AB; Khatri, Bhavisha B; Ye, Hongtao H; Tirabosco, Roberto R; Amary, M Fernanda MF; Flanagan, Adrienne M AM

Publication Date: 2015-04

Variant appearance in text: GNAS1: 680A>T

PubMed Link: 27499898

Variant Present in the following documents:

• CJP2-1-113-s004.xlsx, sheet 1

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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: GNAS: 680A>T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Clinicopathological implications of GNAS in Ewing sarcoma.

Oncology Letters

Noh, Byeong-Joo BJ; Sung, Ji-Youn JY; Kim, Youn Wha YW; Araujo, Eduardo Santini ES; Kalil, Ricardo Karam RK; Jung, Woon-Won WW; Kim, Hyun-Sook HS; Park, Yong-Koo YK

Publication Date: 2016-06

Variant appearance in text: GNAS: Q227L

PubMed Link: 27313744

Variant Present in the following documents:

• Main text

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Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.

Oncotarget

Ibarrola-Villava, Maider M; Fleitas, Tania T; Llorca-Cardeñosa, Marta J MJ; Mongort, Cristina C; Alonso, Elisa E; Navarro, Samuel S; Burgues, Octavio O; Vivancos, Ana A; Cejalvo, Juan Miguel JM; Perez-Fidalgo, José Alejandro JA; Roselló, Susana S; Ribas, Gloria G; Cervantes, Andrés A

Publication Date: 2016-04-19

Variant appearance in text: GNAS: Q227L

PubMed Link: 26968814

Variant Present in the following documents:

• oncotarget-07-22543-s001.pdf

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GNAS Mutations in Fibrous Dysplasia: A Comparative Study of Standard Sequencing and Locked Nucleic Acid PCR Sequencing on Decalcified and Nondecalcified Formalin-fixed Paraffin-embedded Tissues.

Applied Immunohistochemistry & Molecular Morphology : Aimm

Jour, George G; Oultache, Alifya A; Sadowska, Justyna J; Mitchell, Talia T; Healey, John J; Nafa, Khedoudja K; Hameed, Meera M

Publication Date: 2016-10

Variant appearance in text: GNAS: Q227L

PubMed Link: 26574629

Variant Present in the following documents:

• Main text

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GNAS and KRAS Mutations Define Separate Progression Pathways in Intraductal Papillary Mucinous Neoplasm-Associated Carcinoma.

Journal Of The American College Of Surgeons

Tan, Marcus C MC; Basturk, Olca O; Brannon, A Rose AR; Bhanot, Umesh U; Scott, Sasinya N SN; Bouvier, Nancy N; LaFemina, Jennifer J; Jarnagin, William R WR; Berger, Michael F MF; Klimstra, David D; Allen, Peter J PJ

Publication Date: 2015-05

Variant appearance in text: GNAS: Q227L

PubMed Link: 25840541

Variant Present in the following documents:

• Main text

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Giant cell lesions of the craniofacial bones.

Head And Neck Pathology

Flanagan, Adrienne M AM; Speight, Paul M PM

Publication Date: 2014-12

Variant appearance in text: GNAS: Q227L

PubMed Link: 25409853

Variant Present in the following documents:

• Main text
• 12105_2014_Article_589.pdf

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The G protein α chaperone Ric-8 as a potential therapeutic target.

Molecular Pharmacology

Papasergi, Makaía M MM; Patel, Bharti R BR; Tall, Gregory G GG

Publication Date: 2015-01

Variant appearance in text: GNAS: Q227L

PubMed Link: 25319541

Variant Present in the following documents:

• Main text

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Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

The Journal Of Molecular Diagnostics : Jmd

MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI

Publication Date: 2014-11

Variant appearance in text: GNAS: Q227L

PubMed Link: 25157968

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• Main text

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The G protein α subunit Gαs is a tumor suppressor in Sonic hedgehog-driven medulloblastoma.

Nature Medicine

He, Xuelian X; Zhang, Liguo L; Chen, Ying Y; Remke, Marc M; Shih, David D; Lu, Fanghui F; Wang, Haibo H; Deng, Yaqi Y; Yu, Yang Y; Xia, Yong Y; Wu, Xiaochong X; Ramaswamy, Vijay V; Hu, Tom T; Wang, Fan F; Zhou, Wenhao W; Burns, Dennis K DK; Kim, Se Hoon SH; Kool, Marcel M; Pfister, Stefan M SM; Weinstein, Lee S LS; Pomeroy, Scott L SL; Gilbertson, Richard J RJ; Rubin, Joshua B JB; Hou, Yiping Y; Wechsler-Reya, Robert R; Taylor, Michael D MD; Lu, Q Richard QR

Publication Date: 2014-09

Variant appearance in text: GNAS: Q227L

PubMed Link: 25150496

Variant Present in the following documents:

• Main text
• nihms-614698.pdf

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A high throughput screening assay system for the identification of small molecule inhibitors of gsp.

Plos One

Bhattacharyya, Nisan N; Hu, Xin X; Chen, Catherine Z CZ; Mathews Griner, Lesley A LA; Zheng, Wei W; Inglese, James J; Austin, Christopher P CP; Marugan, Juan J JJ; Southall, Noel N; Neumann, Susanne S; Northup, John K JK; Ferrer, Marc M; Collins, Michael T MT

Publication Date: 2014

Variant appearance in text: GNAS: Q227L

PubMed Link: 24667240

Variant Present in the following documents:

• Main text

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