Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GNA11: 547C>T; Arg183Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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A phase I trial of LXS196, a protein kinase C (PKC) inhibitor, for metastatic uveal melanoma.

British Journal Of Cancer

Piperno-Neumann, S S; Carlino, M S MS; Boni, V V; Loirat, D D; Speetjens, F M FM; Park, J J JJ; Calvo, E E; Carvajal, R D RD; Nyakas, M M; Gonzalez-Maffe, J J; Zhu, X X; Shirley, M D MD; Ramkumar, T T; Fessehatsion, A A; Burks, H E HE; Yerramilli-Rao, P P; Kapiteijn, E E

Publication Date: 2023-01-09

Variant appearance in text: GNA11: R183C

PubMed Link: 36624219

Variant Present in the following documents:

• Main text

View BVdb publication page

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Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.

Pediatric Dermatology

Davies, Olivia M T OMT; Ng, Ashley T AT; Tran, Jennifer J; Blumenthal, Shoshana S; Arkin, Lisa M LM; Nopper, Amy J AJ; Cottrell, Catherine E CE; Garzon, Maria M; Siegel, Dawn H DH; Frieden, Ilona J IJ; Drolet, Beth A BA

Publication Date: 2022-11

Variant appearance in text: GNA11: R183C

PubMed Link: 36440997

Variant Present in the following documents:

• Main text
• PDE-39-914.pdf

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: GNA11: R183C

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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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: GNA11: R183C

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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GNAQ and GNA11 Genes: A Comprehensive Review on Oncogenesis, Prognosis and Therapeutic Opportunities in Uveal Melanoma.

Cancers

Silva-Rodríguez, Paula P; Fernández-Díaz, Daniel D; Bande, Manuel M; Pardo, María M; Loidi, Lourdes L; Blanco-Teijeiro, María José MJ

Publication Date: 2022-06-22

Variant appearance in text: GNA11: R183C

PubMed Link: 35804836

Variant Present in the following documents:

• Main text
• cancers-14-03066.pdf

View BVdb publication page

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Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.

Biomedicines

Diociaiuti, Andrea A; Rotunno, Roberta R; Pisaneschi, Elisa E; Cesario, Claudia C; Carnevale, Claudia C; Condorelli, Angelo Giuseppe AG; Rollo, Massimo M; Di Cecca, Stefano S; Quintarelli, Concetta C; Novelli, Antonio A; Zambruno, Giovanna G; El Hachem, May M

Publication Date: 2022-06-20

Variant appearance in text: GNA11: 547C>T; Arg183Cys

PubMed Link: 35740480

Variant Present in the following documents:

• biomedicines-10-01460.pdf

View BVdb publication page

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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: GNA11: R183C

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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ISSVA Classification of Vascular Anomalies and Molecular Biology.

International Journal Of Molecular Sciences

Kunimoto, Kayo K; Yamamoto, Yuki Y; Jinnin, Masatoshi M

Publication Date: 2022-02-21

Variant appearance in text: GNA11: R183C

PubMed Link: 35216474

Variant Present in the following documents:

• Main text
• ijms-23-02358.pdf

View BVdb publication page

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Targeting GPCRs and Their Signaling as a Therapeutic Option in Melanoma.

Cancers

Raymond, Jérémy H JH; Aktary, Zackie Z; Larue, Lionel L; Delmas, Véronique V

Publication Date: 2022-01-29

Variant appearance in text: GNA11: R183C

PubMed Link: 35158973

Variant Present in the following documents:

• Main text
• cancers-14-00706.pdf

View BVdb publication page

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Targeting GPCRs and Their Signaling as a Therapeutic Option in Melanoma.

Cancers

Raymond, Jérémy H JH; Aktary, Zackie Z; Larue, Lionel L; Delmas, Véronique V

Publication Date: 2022-01-29

Variant appearance in text: GNA11: R183C

PubMed Link: 35158973

Variant Present in the following documents:

• Main text
• cancers-14-00706.pdf

View BVdb publication page

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Analytical Validation and Performance of a 7-Gene Next-Generation Sequencing Panel in Uveal Melanoma.

Ocular Oncology And Pathology

Alsina, Katherina M KM; Sholl, Lauren M LM; Covington, Kyle R KR; Arnal, Suzzette M SM; Durante, Michael A MA; Decatur, Christina L CL; Stone, John F JF; Oelschlager, Kristen M KM; Harbour, J William JW; Monzon, Federico A FA; Cook, Robert W RW; Borman, Sherri S

Publication Date: 2021-12

Variant appearance in text: GNA11: 547C>T; Arg183Cys

PubMed Link: 35083209

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeting Oncogenic Gαq/11 in Uveal Melanoma.

Cancers

Lapadula, Dominic D; Benovic, Jeffrey L JL

Publication Date: 2021-12-09

Variant appearance in text: GNA11: R183C

PubMed Link: 34944815

Variant Present in the following documents:

• Main text
• cancers-13-06195.pdf

View BVdb publication page

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Targeting Oncogenic Gαq/11 in Uveal Melanoma.

Cancers

Lapadula, Dominic D; Benovic, Jeffrey L JL

Publication Date: 2021-12-09

Variant appearance in text: GNA11: R183C

PubMed Link: 34944815

Variant Present in the following documents:

• Main text
• cancers-13-06195.pdf

View BVdb publication page

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Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma.

Cancers

Terai, Mizue M; Shimada, Ayako A; Chervoneva, Inna I; Hulse, Liam L; Danielson, Meggie M; Swensen, Jeff J; Orloff, Marlana M; Wedegaertner, Philip B PB; Benovic, Jeffrey L JL; Aplin, Andrew E AE; Sato, Takami T

Publication Date: 2021-11-17

Variant appearance in text: GNA11: R183C

PubMed Link: 34830903

Variant Present in the following documents:

• Main text
• cancers-13-05749.pdf

View BVdb publication page

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Genetic Landscape and Emerging Therapies in Uveal Melanoma.

Cancers

Seedor, Rino S RS; Orloff, Marlana M; Sato, Takami T

Publication Date: 2021-11-02

Variant appearance in text: GNA11: R183C

PubMed Link: 34771666

Variant Present in the following documents:

• Main text
• cancers-13-05503.pdf

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: GNA11: R183C

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Scientific Reports

Lee, Woo Seung WS; Lee, Junwon J; Choi, Jun Jeong JJ; Kang, Hyun Goo HG; Lee, Sung Chul SC; Kim, Ju Han JH

Publication Date: 2021-09-20

Variant appearance in text: GNA11: R183C

PubMed Link: 34545149

Variant Present in the following documents:

• 41598_2021_98084_MOESM2_ESM.xlsx, sheet 4
• 41598_2021_98084_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Definition of Biologically Distinct Groups of Conjunctival Melanomas According to Etiological Factors and Implications for Precision Medicine.

Cancers

Gardrat, Sophie S; Houy, Alexandre A; Brooks, Kelly K; Cassoux, Nathalie N; Barnhill, Raymond R; Dayot, Stéphane S; Bièche, Ivan I; Raynal, Virginie V; Baulande, Sylvain S; Marais, Richard R; Roman-Roman, Sergio S; Stern, Marc-Henri MH; Rodrigues, Manuel M

Publication Date: 2021-07-30

Variant appearance in text: GNA11: R183C

PubMed Link: 34359736

Variant Present in the following documents:

• Main text
• cancers-13-03836.pdf

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: GNA11: R183C

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_Article_226.pdf
• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: GNA11: R183C

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 17
• Table_1.xlsx, sheet 33
• Table_1.xlsx, sheet 26

View BVdb publication page

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Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.

Scientific Reports

Garcia, Jessica J; Kamps-Hughes, Nick N; Geiguer, Florence F; Couraud, Sébastien S; Sarver, Brice B; Payen, Léa L; Ionescu-Zanetti, Cristian C

Publication Date: 2021-05-24

Variant appearance in text: GNA11: 547C>T; R183C

PubMed Link: 34031447

Variant Present in the following documents:

• 41598_2021_89592_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: GNA11: R183C

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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MicroRNA-1249 Targets G Protein Subunit Alpha 11 and Facilitates Gastric Cancer Cell Proliferation, Motility and Represses Cell Apoptosis.

Oncotargets And Therapy

Zhang, Hongzhu H; Fu, Tingting T; Zhang, Cuiping C

Publication Date: 2021

Variant appearance in text: GNA11: R183C

PubMed Link: 33658793

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrative Genomic Analyses of Patient-Matched Intracranial and Extracranial Metastases Reveal a Novel Brain-Specific Landscape of Genetic Variants in Driver Genes of Malignant Melanoma.

Cancers

Váraljai, Renáta R; Horn, Susanne S; Sucker, Antje A; Piercianek, Daniela D; Schmitt, Verena V; Carpinteiro, Alexander A; Becker, Katrin Anne KA; Reifenberger, Julia J; Roesch, Alexander A; Felsberg, Joerg J; Reifenberger, Guido G; Sure, Ulrich U; Schadendorf, Dirk D; Helfrich, Iris I

Publication Date: 2021-02-10

Variant appearance in text: GNA11: R183C

PubMed Link: 33578810

Variant Present in the following documents:

• Main text
• cancers-13-00731.pdf

View BVdb publication page

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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: GNA11: 547C>T; R183C

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Monosomy 3 Influences Epithelial-Mesenchymal Transition Gene Expression in Uveal Melanoma Patients; Consequences for Liquid Biopsy.

International Journal Of Molecular Sciences

Soltysova, Andrea A; Sedlackova, Tatiana T; Dvorska, Dana D; Jasek, Karin K; Chokhachi Baradaran, Pooneh P; Horvathova Kajabova, Viera V; Demkova, Lucia L; Buocikova, Verona V; Kurucova, Terezia T; Lyskova, Darina D; Furdova, Alena A; Minarik, Gabriel G; Babal, Pavel P; Dankova, Zuzana Z; Smolkova, Bozena B

Publication Date: 2020-12-17

Variant appearance in text: GNA11: R183C

PubMed Link: 33348918

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional characterization of uveal melanoma oncogenes.

Oncogene

Ma, Jiafang J; Weng, Li L; Bastian, Boris C BC; Chen, Xu X

Publication Date: 2021-01

Variant appearance in text: GNA11: R183C

PubMed Link: 33262460

Variant Present in the following documents:

• nihms-1645972.pdf

View BVdb publication page

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Tumor evolutionary trajectories during the acquisition of invasiveness in early stage lung adenocarcinoma.

Nature Communications

Wang, Siwei S; Du, Mulong M; Zhang, Jingyuan J; Xu, Weizhang W; Yuan, Qianyu Q; Li, Ming M; Wang, Jie J; Zhu, Hongyu H; Wang, Yuzhuo Y; Wang, Cheng C; Gong, Yuhua Y; Wang, Xiaonan X; Hu, Zhibin Z; Christiani, David C DC; Xu, Lin L; Shen, Hongbing H; Yin, Rong R

Publication Date: 2020-11-27

Variant appearance in text: GNA11: 547C>T; R183C

PubMed Link: 33247113

Variant Present in the following documents:

• 41467_2020_19855_MOESM5_ESM.xlsx, sheet 1

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: GNA11: 547C>T; R183C

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Uveal melanoma: progress in molecular biology and therapeutics.

Therapeutic Advances In Medical Oncology

Li, Yongyun Y; Shi, Jiahao J; Yang, Jie J; Ge, Shengfang S; Zhang, Jianming J; Jia, Renbing R; Fan, Xianqun X

Publication Date: 2020

Variant appearance in text: GNA11: R183C

PubMed Link: 33149769

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Application of Circulating Tumor Cells and Circulating Tumor DNA in Uveal Melanoma.

Jco Precision Oncology

Beasley, Aaron A; Isaacs, Timothy T; Khattak, Muhammad A MA; Freeman, James B JB; Allcock, Richard R; Chen, Fred K FK; Pereira, Michelle R MR; Yau, Kyle K; Bentel, Jaqueline J; Vermeulen, Tersia T; Calapre, Leslie L; Millward, Michael M; Ziman, Melanie R MR; Gray, Elin S ES

Publication Date: 2018

Variant appearance in text: GNA11: R183C

PubMed Link: 32913999

Variant Present in the following documents:

• Main text
• PO.17.00279.pdf

View BVdb publication page

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Non-BRAF Mutant Melanoma: Molecular Features and Therapeutical Implications.

Frontiers In Molecular Biosciences

Vanni, Irene I; Tanda, Enrica Teresa ET; Dalmasso, Bruna B; Pastorino, Lorenza L; Andreotti, Virginia V; Bruno, William W; Boutros, Andrea A; Spagnolo, Francesco F; Ghiorzo, Paola P

Publication Date: 2020

Variant appearance in text: GNA11: R183C

PubMed Link: 32850962

Variant Present in the following documents:

• Main text

View BVdb publication page

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Metastatic Syringocystadenocarcinoma Papilliferum: A Case Report, Tumor Genomic Profiling, and Literature Review.

Case Reports In Oncological Medicine

Altunel, Erdem E; Perepletchikov, Aleksandr A; Kozyreva, Olga O

Publication Date: 2020

Variant appearance in text: GNA11: R183C

PubMed Link: 32850165

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells.

The Febs Journal

Tiemann-Boege, Irene I; Mair, Theresa T; Yasari, Atena A; Zurovec, Michal M

Publication Date: 2021-05

Variant appearance in text: GNA11: R183C

PubMed Link: 32810928

Variant Present in the following documents:

• Main text
• FEBS-288-3108.pdf

View BVdb publication page

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A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr

Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC

Publication Date: 2020-07-31

Variant appearance in text: GNA11: 547C>T; R183C

PubMed Link: 32736587

Variant Present in the following documents:

• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1
• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 2
• 13058_2020_1322_MOESM3_ESM.xlsx, sheet 3

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: GNA11: 547C>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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Genomic and signalling pathway characterization of the NZM panel of melanoma cell lines: A valuable model for studying the impact of genetic diversity in melanoma.

Pigment Cell & Melanoma Research

Tran, Khanh B KB; Gimenez, Gregory G; Tsai, Peter P; Kolekar, Sharada S; Rodger, Euan J EJ; Chatterjee, Aniruddha A; Jabed, Anower A; Shih, Jen-Hsing JH; Joseph, Wayne R WR; Marshall, Elaine S ES; Wang, Qian Q; Print, Cristin G CG; Eccles, Michael R MR; Baguley, Bruce C BC; Shepherd, Peter R PR

Publication Date: 2021-01

Variant appearance in text: GNA11: R183C

PubMed Link: 32567790

Variant Present in the following documents:

• PCMR-34-136-s007.xlsx, sheet 1

View BVdb publication page

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Update on GNA Alterations in Cancer: Implications for Uveal Melanoma Treatment.

Cancers

Larribère, Lionel L; Utikal, Jochen J

Publication Date: 2020-06-10

Variant appearance in text: GNA11: R183C

PubMed Link: 32532044

Variant Present in the following documents:

• Main text
• cancers-12-01524.pdf

View BVdb publication page

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Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.

Nature Communications

Johansson, Peter A PA; Brooks, Kelly K; Newell, Felicity F; Palmer, Jane M JM; Wilmott, James S JS; Pritchard, Antonia L AL; Broit, Natasa N; Wood, Scott S; Carlino, Matteo S MS; Leonard, Conrad C; Koufariotis, Lambros T LT; Nathan, Vaishnavi V; Beasley, Aaron B AB; Howlie, Madeleine M; Dawson, Rebecca R; Rizos, Helen H; Schmidt, Chris W CW; Long, Georgina V GV; Hamilton, Hayley H; Kiilgaard, Jens F JF; Isaacs, Timothy T; Gray, Elin S ES; Rolfe, Olivia J OJ; Park, John J JJ; Stark, Andrew A; Mann, Graham J GJ; Scolyer, Richard A RA; Pearson, John V JV; van Baren, Nicolas N; Waddell, Nicola N; Wadt, Karin W KW; McGrath, Lindsay A LA; Warrier, Sunil K SK; Glasson, William W; Hayward, Nicholas K NK

Publication Date: 2020-05-15

Variant appearance in text: GNA11: R183C

PubMed Link: 32415113

Variant Present in the following documents:

• Main text
• 41467_2020_16276_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular profiling of driver events in metastatic uveal melanoma.

Nature Communications

Karlsson, Joakim J; Nilsson, Lisa M LM; Mitra, Suman S; Alsén, Samuel S; Shelke, Ganesh Vilas GV; Sah, Vasu R VR; Forsberg, Elin M V EMV; Stierner, Ulrika U; All-Eriksson, Charlotta C; Einarsdottir, Berglind B; Jespersen, Henrik H; Ny, Lars L; Lindnér, Per P; Larsson, Erik E; Olofsson Bagge, Roger R; Nilsson, Jonas A JA

Publication Date: 2020-04-20

Variant appearance in text: GNA11: R183C

PubMed Link: 32313009

Variant Present in the following documents:

• 41467_2020_Article_15606.pdf
• 41467_2020_15606_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Heterotrimeric Gq proteins as therapeutic targets?

The Journal Of Biological Chemistry

Kostenis, Evi E; Pfeil, Eva Marie EM; Annala, Suvi S

Publication Date: 2020-04-17

Variant appearance in text: GNA11: R183C

PubMed Link: 32122969

Variant Present in the following documents:

• Main text

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: GNA11: R183C

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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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: GNA11: 547C>T; R183C

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.

Neurology. Genetics

Sliepka, Joseph M JM; McGriff, Sarah C SC; Rossetti, Linda Z LZ; Bizargity, Peyman P; Streff, Haley H; Lee, Yi-Shan YS; Dai, Hongzheng H; Polubothu, Satyamaanasa S; Lee, Grace G; Ren, Vicky V; Hunter, Jill V JV; Curry, Daniel J DJ; Scaglia, Fernando F; Adesina, Adekunle M AM; Ali, Irfan I; Kinsler, Veronica V; Burrage, Lindsay C LC; Marafi, Dana D

Publication Date: 2019-12

Variant appearance in text: GNA11: 547C>T; Arg183Cys

PubMed Link: 31872050

Variant Present in the following documents:

• Main text
• NG2019010827.pdf

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GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.

The Journal Of Investigative Dermatology

Polubothu, Satyamaanasa S; Al-Olabi, Lara L; Carmen Del Boente, Maria M; Chacko, Alisha A; Eleftheriou, Georgios G; Glover, Mary M; Jiménez-Gallo, David D; Jones, Elizabeth A EA; Lomas, Debra D; Fölster-Holst, Regina R; Syed, Samira S; Tasani, Monika M; Thomas, Anna A; Tisdall, Martin M; Torrelo, Antonio A; Aylett, Sarah S; Kinsler, Veronica A VA

Publication Date: 2020-05

Variant appearance in text: GNA11: R183C

PubMed Link: 31838126

Variant Present in the following documents:

• Main text

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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: GNA11: 547C>T; R183C

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

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Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort.

American Journal Of Human Genetics

McNulty, Samantha N SN; Evenson, Michael J MJ; Corliss, Meagan M MM; Love-Gregory, Latisha D LD; Schroeder, Molly C MC; Cao, Yang Y; Lee, Yi-Shan YS; Drolet, Beth A BA; Neidich, Julie A JA; Cottrell, Catherine E CE; Heusel, Jonathan W JW

Publication Date: 2019-10-03

Variant appearance in text: GNA11: Arg183Cys

PubMed Link: 31585106

Variant Present in the following documents:

• Main text

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