GNAS c.601C>A ;(p.R201S)

Variant ID: 20-57484420-C-A

NM_000516.4(GNAS):c.601C>A;(p.R201S)

This variant was identified in 83 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs11554273
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.

Nature Genetics
Mangiante, Lise L; Alcala, Nicolas N; Sexton-Oates, Alexandra A; Di Genova, Alex A; Gonzalez-Perez, Abel A; Khandekar, Azhar A; Bergstrom, Erik N EN; Kim, Jaehee J; Liu, Xiran X; Blazquez-Encinas, Ricardo R; Giacobi, Colin C; Le Stang, Nolwenn N; Boyault, Sandrine S; Cuenin, Cyrille C; Tabone-Eglinger, Severine S; Damiola, Francesca F; Voegele, Catherine C; Ardin, Maude M; Michallet, Marie-Cecile MC; Soudade, Lorraine L; Delhomme, Tiffany M TM; Poret, Arnaud A; Brevet, Marie M; Copin, Marie-Christine MC; Giusiano-Courcambeck, Sophie S; Damotte, Diane D; Girard, Cecile C; Hofman, Veronique V; Hofman, Paul P; Mouroux, Jérôme J; Cohen, Charlotte C; Lacomme, Stephanie S; Mazieres, Julien J; de Montpreville, Vincent Thomas VT; Perrin, Corinne C; Planchard, Gaetane G; Rousseau, Nathalie N; Rouquette, Isabelle I; Sagan, Christine C; Scherpereel, Arnaud A; Thivolet, Francoise F; Vignaud, Jean-Michel JM; Jean, Didier D; Ilg, Anabelle Gilg Soit AGS; Olaso, Robert R; Meyer, Vincent V; Boland-Auge, Anne A; Deleuze, Jean-Francois JF; Altmuller, Janine J; Nuernberg, Peter P; Ibáñez-Costa, Alejandro A; Castaño, Justo P JP; Lantuejoul, Sylvie S; Ghantous, Akram A; Maussion, Charles C; Courtiol, Pierre P; Hernandez-Vargas, Hector H; Caux, Christophe C; Girard, Nicolas N; Lopez-Bigas, Nuria N; Alexandrov, Ludmil B LB; Galateau-Salle, Françoise F; Foll, Matthieu M; Fernandez-Cuesta, Lynnette L
Publication Date: 2023-03-16

Variant appearance in text: rs11554273
PubMed Link: 36928603
Variant Present in the following documents:
  • 41588_2023_1321_MOESM4_ESM.xlsx, sheet 44
View BVdb publication page



"Proteotranscriptomic analysis of advanced colorectal cancer patient derived organoids for drug sensitivity prediction".

Journal Of Experimental & Clinical Cancer Research : Cr
Papaccio, Federica F; García-Mico, Blanca B; Gimeno-Valiente, Francisco F; Cabeza-Segura, Manuel M; Gambardella, Valentina V; Gutiérrez-Bravo, María Fernanda MF; Alfaro-Cervelló, Clara C; Martinez-Ciarpaglini, Carolina C; Rentero-Garrido, Pilar P; Zúñiga-Trejos, Sheila S; Carbonell-Asins, Juan Antonio JA; Fleitas, Tania T; Roselló, Susana S; Huerta, Marisol M; Sánchez Del Pino, Manuel M MM; Sabater, Luís L; Roda, Desamparados D; Tarazona, Noelia N; Cervantes, Andrés A; Castillo, Josefa J
Publication Date: 2023-01-06

Variant appearance in text: GNAS: R201S
PubMed Link: 36604765
Variant Present in the following documents:
  • 13046_2022_Article_2591.pdf
View BVdb publication page



Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Nature Communications
Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES
Publication Date: 2022-12-05

Variant appearance in text: GNAS: R201S
PubMed Link: 36470901
Variant Present in the following documents:
  • 41467_2022_35245_MOESM4_ESM.xlsx, sheet 17
View BVdb publication page



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: R201S
PubMed Link: 36435867
Variant Present in the following documents:
  • Main text
  • 42003_2022_4272_MOESM4_ESM.xlsx, sheet 1
  • 42003_2022_4272_MOESM1_ESM.pdf
  • 42003_2022_Article_4272.pdf
View BVdb publication page



A GNAS Gene Mutation's Independent Expression in the Growth of Colorectal Cancer: A Systematic Review and Meta-Analysis.

Cancers
Afolabi, Hafeez Abiola HA; Salleh, Salzihan Md SM; Zakaria, Zaidi Z; Ch'ng, Ewe Seng ES; Mohd Nafi, Siti Norasikin SN; Abdul Aziz, Ahmad Aizat Bin AAB; Irekeola, Ahmad Adebayo AA; Wada, Yusuf Y; Al-Mhanna, Sameer Badri SB
Publication Date: 2022-11-08

Variant appearance in text: GNAS: R201S
PubMed Link: 36428574
Variant Present in the following documents:
  • Main text
  • cancers-14-05480.pdf
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: GNAS: 601C>A; R201S
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: rs11554273
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



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: R201s
PubMed Link: 36297195
Variant Present in the following documents:
  • Main text
  • pathogens-11-01138.pdf
View BVdb publication page



Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Cancer Communications (London, England)
Wu, Huanwen H; Yu, Zicheng Z; Liu, Yueping Y; Guo, Lei L; Teng, Lianghong L; Guo, Lingchuan L; Liang, Li L; Wang, Jing J; Gao, Jie J; Li, Ruiyu R; Yang, Ling L; Nie, Xiu X; Su, Dan D; Liang, Zhiyong Z
Publication Date: 2022-10-20

Variant appearance in text: rs11554273
PubMed Link: 36264285
Variant Present in the following documents:
  • CAC2-42-1367-s002.xlsx, sheet 3
View BVdb publication page



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: R201S
PubMed Link: 36170854
Variant Present in the following documents:
  • Main text
  • nihms-1837800.pdf
View BVdb publication page



Whole exome sequencing reveals novel risk genes of pituitary neuroendocrine tumors.

Plos One
Peculis, Raitis R; Rovite, Vita V; Megnis, Kaspars K; Balcere, Inga I; Breiksa, Austra A; Nazarovs, Jurijs J; Stukens, Janis J; Konrade, Ilze I; Sokolovska, Jelizaveta J; Pirags, Valdis V; Klovins, Janis J
Publication Date: 2022

Variant appearance in text: rs11554273
PubMed Link: 36026497
Variant Present in the following documents:
  • pone.0265306.pdf
View BVdb publication page



ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia.

Leukemia
Schönfeld, Lioba L; Rinke, Jenny J; Hinze, Anna A; Nagel, Saskia N SN; Schäfer, Vivien V; Schenk, Thomas T; Fabisch, Christian C; Brümmendorf, Tim H TH; Burchert, Andreas A; le Coutre, Philipp P; Krause, Stefan W SW; Saussele, Susanne S; Safizadeh, Fatemeh F; Pfirrmann, Markus M; Hochhaus, Andreas A; Ernst, Thomas T
Publication Date: 2022-09

Variant appearance in text: rs11554273
PubMed Link: 35902731
Variant Present in the following documents:
  • 41375_2022_1648_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Ejhaem
Cheng, Chi-Keung CK; Lai, Jennifer W Y JWY; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Wong, Raymond S M RSM; Chan, Natalie P H NPH; Cheung, Joyce S JS; Luo, Xi X; Pitts, Herbert-Augustus HA; Ng, Margaret H L MHL
Publication Date: 2022-02

Variant appearance in text: rs11554273
PubMed Link: 35846205
Variant Present in the following documents:
  • JHA2-3-184-s002.xlsx, sheet 1
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: GNAS: R201S
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: GNAS: 601C>A; R201S
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.

Jto Clinical And Research Reports
Thompson, Jeffrey C JC; Aggarwal, Charu C; Wong, Janeline J; Nimgaonkar, Vivek V; Hwang, Wei-Ting WT; Andronov, Michelle M; Dibardino, David M DM; Hutchinson, Christoph T CT; Ma, Kevin C KC; Lanfranco, Anthony A; Moon, Edmund E; Haas, Andrew R AR; Singh, Aditi P AP; Ciunci, Christine A CA; Marmarelis, Melina M; D'Avella, Christopher C; Cohen, Justine V JV; Bauml, Joshua M JM; Cohen, Roger B RB; Langer, Corey J CJ; Vachani, Anil A; Carpenter, Erica L EL
Publication Date: 2022-04

Variant appearance in text: GNAS: R201S
PubMed Link: 35392653
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Fibrous dysplasia in maxilla in a patient on hemodialysis with severe secondary hyperparathyroidism.

The Korean Journal Of Internal Medicine
Yang, Hui-Hsin HH; Wu, Cheng-Hsien CH; Tsai, Hsin-Lin HL; Chang, Jei-Wen JW
Publication Date: 2022-05

Variant appearance in text: GNAS: R201S
PubMed Link: 35345245
Variant Present in the following documents:
  • kjim-2021-473.pdf
View BVdb publication page



Molecular landscape of osimertinib resistance in patients and patient-derived preclinical models.

Therapeutic Advances In Medical Oncology
Lim, Sun Min SM; Yang, San-Duk SD; Lim, Sangbin S; Heo, Seong Gu SG; Daniel, Stetson S; Markovets, Aleksandra A; Minoo, Rafati R; Pyo, Kyoung-Ho KH; Yun, Mi Ran MR; Hong, Min Hee MH; Kim, Hye Ryun HR; Cho, Byoung Chul BC
Publication Date: 2022

Variant appearance in text: GNAS: R201S
PubMed Link: 35251316
Variant Present in the following documents:
  • Main text
  • 10.1177_17588359221079125.pdf
View BVdb publication page



Whole-exome sequencing in cervical adenocarcinoma in mainland Chinese patients.

Translational Cancer Research
Zhang, Xinxin X; Guo, Jing J; Cai, Yaping Y; Sheng, Xiugui X
Publication Date: 2020-11

Variant appearance in text: rs11554273
PubMed Link: 35117297
Variant Present in the following documents:
  • Main text
  • tcr-09-11-6889.pdf
View BVdb publication page



CD8+ cell somatic mutations in multiple sclerosis patients and controls-Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies.

Plos One
Valori, Miko M; Jansson, Lilja L; Tienari, Pentti J PJ
Publication Date: 2021

Variant appearance in text: GNAS: R201S; rs11554273
PubMed Link: 34874980
Variant Present in the following documents:
  • pone.0261002.s008.xlsx, sheet 1
View BVdb publication page



CD8+ cell somatic mutations in multiple sclerosis patients and controls-Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies.

Plos One
Valori, Miko M; Jansson, Lilja L; Tienari, Pentti J PJ
Publication Date: 2021

Variant appearance in text: GNAS: R201S; rs11554273
PubMed Link: 34874980
Variant Present in the following documents:
  • pone.0261002.s008.xlsx, sheet 1
View BVdb publication page



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: R201S
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study.

Genome Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Patel, Hitendra H; Nikanjam, Mina M; Fanta, Paul T PT; Hahn, Michael E ME; De, Pradip P; Williams, Casey C; Guido, Jessica J; Solomon, Benjamin M BM; McKay, Rana R RR; Krie, Amy A; Boles, Sarah G SG; Ross, Jeffrey S JS; Lee, J Jack JJ; Leyland-Jones, Brian B; Lippman, Scott M SM; Kurzrock, Razelle R
Publication Date: 2021-10-04

Variant appearance in text: GNAS: R201S
PubMed Link: 34607609
Variant Present in the following documents:
  • 13073_2021_969_MOESM1_ESM.xlsx, sheet 1
  • 13073_2021_969_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports
Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ
Publication Date: 2021-08-09

Variant appearance in text: rs11554273
PubMed Link: 34373545
Variant Present in the following documents:
  • 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: R201S
PubMed Link: 34201897
Variant Present in the following documents:
  • Main text
  • ijms-22-06756.pdf
View BVdb publication page



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: GNAS: R201S; rs11554273
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



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: 601C>A; R201S
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
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: GNAS: 601C>A; R201S
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: GNAS: 601C>A; R201S; rs11554273
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj
Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F
Publication Date: 2020

Variant appearance in text: rs11554273
PubMed Link: 33083132
Variant Present in the following documents:
  • peerj-08-10069-s013.xlsx, sheet 1
View BVdb publication page



Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Nature
Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P
Publication Date: 2020-10

Variant appearance in text: GNAS: R201S
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



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: rs11554273
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeting DNA Damage Response and Replication Stress in Pancreatic Cancer.

Gastroenterology
Dreyer, Stephan B SB; Upstill-Goddard, Rosie R; Paulus-Hock, Viola V; Paris, Clara C; Lampraki, Eirini-Maria EM; Dray, Eloise E; Serrels, Bryan B; Caligiuri, Giuseppina G; Rebus, Selma S; Plenker, Dennis D; Galluzzo, Zachary Z; Brunton, Holly H; Cunningham, Richard R; Tesson, Mathias M; Nourse, Craig C; Bailey, Ulla-Maja UM; Jones, Marc M; Moran-Jones, Kim K; Wright, Derek W DW; Duthie, Fraser F; Oien, Karin K; Evers, Lisa L; McKay, Colin J CJ; McGregor, Grant A GA; Gulati, Aditi A; Brough, Rachel R; Bajrami, Ilirjana I; Pettitt, Stephan S; Dziubinski, Michele L ML; Candido, Juliana J; Balkwill, Frances F; Barry, Simon T ST; Grützmann, Robert R; Rahib, Lola L; , ; , ; Johns, Amber A; Pajic, Marina M; Froeling, Fieke E M FEM; Beer, Phillip P; Musgrove, Elizabeth A EA; Petersen, Gloria M GM; Ashworth, Alan A; Frame, Margaret C MC; Crawford, Howard C HC; Simeone, Diane M DM; Lord, Chris C; Mukhopadhyay, Debabrata D; Pilarsky, Christian C; Tuveson, David A DA; Cooke, Susanna L SL; Jamieson, Nigel B NB; Morton, Jennifer P JP; Sansom, Owen J OJ; Bailey, Peter J PJ; Biankin, Andrew V AV; Chang, David K DK
Publication Date: 2021-01

Variant appearance in text: rs11554273
PubMed Link: 33039466
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



The biological basis and function of GNAS mutation in pseudomyxoma peritonei: a review.

Journal Of Cancer Research And Clinical Oncology
Lin, Yu-Lin YL; Ma, Ru R; Li, Yan Y
Publication Date: 2020-09

Variant appearance in text: GNAS: 601C>A
PubMed Link: 32700107
Variant Present in the following documents:
  • Main text
  • 432_2020_Article_3321.pdf
View BVdb publication page



Evaluation of circulating tumor DNA as a biomarker in pancreatic cancer with liver metastasis.

Plos One
Uesato, Yasunori Y; Sasahira, Naoki N; Ozaka, Masato M; Sasaki, Takashi T; Takatsuki, Mitsuhisa M; Zembutsu, Hitoshi H
Publication Date: 2020

Variant appearance in text: GNAS: R201S
PubMed Link: 32614932
Variant Present in the following documents:
  • pone.0235623.s001.xlsx, sheet 1
View BVdb publication page



Pituispheres Contain Genetic Variants Characteristic to Pituitary Adenoma Tumor Tissue.

Frontiers In Endocrinology
Peculis, Raitis R; Mandrika, Ilona I; Petrovska, Ramona R; Dortane, Rasma R; Megnis, Kaspars K; Nazarovs, Jurijs J; Balcere, Inga I; Stukens, Janis J; Konrade, Ilze I; Pirags, Valdis V; Klovins, Janis J; Rovite, Vita V
Publication Date: 2020

Variant appearance in text: rs11554273
PubMed Link: 32528411
Variant Present in the following documents:
  • Main text
  • fendo-11-00313.pdf
View BVdb publication page



HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer.

Cell Reports
Brunton, Holly H; Caligiuri, Giuseppina G; Cunningham, Richard R; Upstill-Goddard, Rosie R; Bailey, Ulla-Maja UM; Garner, Ian M IM; Nourse, Craig C; Dreyer, Stephan S; Jones, Marc M; Moran-Jones, Kim K; Wright, Derek W DW; Paulus-Hock, Viola V; Nixon, Colin C; Thomson, Gemma G; Jamieson, Nigel B NB; McGregor, Grant A GA; Evers, Lisa L; McKay, Colin J CJ; Gulati, Aditi A; Brough, Rachel R; Bajrami, Ilirjana I; Pettitt, Stephen J SJ; Dziubinski, Michele L ML; Barry, Simon T ST; Grützmann, Robert R; Brown, Robert R; Curry, Edward E; , ; , ; Pajic, Marina M; Musgrove, Elizabeth A EA; Petersen, Gloria M GM; Shanks, Emma E; Ashworth, Alan A; Crawford, Howard C HC; Simeone, Diane M DM; Froeling, Fieke E M FEM; Lord, Christopher J CJ; Mukhopadhyay, Debabrata D; Pilarsky, Christian C; Grimmond, Sean E SE; Morton, Jennifer P JP; Sansom, Owen J OJ; Chang, David K DK; Bailey, Peter J PJ; Biankin, Andrew V AV
Publication Date: 2020-05-12

Variant appearance in text: rs11554273
PubMed Link: 32402285
Variant Present in the following documents:
  • NIHMS1625804-supplement-Table_S4.xlsx, sheet 1
View BVdb publication page



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: R201S
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: rs11554273
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Real-World Toxicity Experience with BRAF/MEK Inhibitors in Patients with Erdheim-Chester Disease.

The Oncologist
Saunders, Ila M IM; Goodman, Aaron M AM; Kurzrock, Razelle R
Publication Date: 2020-02

Variant appearance in text: GNAS: R201S
PubMed Link: 32043767
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: GNAS: Arg201Ser; rs11554273
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5
View BVdb publication page



Hemimethylation Patterns in Breast Cancer Cell Lines.

Cancer Informatics
Sun, Shuying S; Lee, Yu Ri YR; Enfield, Brittany B
Publication Date: 2019

Variant appearance in text: rs11554273
PubMed Link: 31496635
Variant Present in the following documents:
  • Main text
  • 10.1177_1176935119872959.pdf
View BVdb publication page



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: R201S
PubMed Link: 31337866
Variant Present in the following documents:
  • 41388_2019_895_MOESM2_ESM.xlsx, sheet 8
  • 41388_2019_895_MOESM2_ESM.xlsx, sheet 12
  • 41388_2019_895_MOESM2_ESM.xlsx, sheet 17
View BVdb publication page



Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations.

Gastroenterology
Fischer, Catherine G CG; Beleva Guthrie, Violeta V; Braxton, Alicia M AM; Zheng, Lily L; Wang, Pei P; Song, Qianqian Q; Griffin, James F JF; Chianchiano, Peter E PE; Hosoda, Waki W; Niknafs, Noushin N; Springer, Simeon S; Dal Molin, Marco M; Masica, David D; Scharpf, Robert B RB; Thompson, Elizabeth D ED; He, Jin J; Wolfgang, Christopher L CL; Hruban, Ralph H RH; Roberts, Nicholas J NJ; Lennon, Anne Marie AM; Jiao, Yuchen Y; Karchin, Rachel R; Wood, Laura D LD
Publication Date: 2019-10

Variant appearance in text: GNAS: R201S
PubMed Link: 31175866
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs11554273
PubMed Link: 30857943
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Identification of novel GNAS mutations in intramuscular myxoma using next-generation sequencing with single-molecule tagged molecular inversion probes.

Diagnostic Pathology
Bekers, Elise M EM; Eijkelenboom, Astrid A; Rombout, Paul P; van Zwam, Peter P; Mol, Suzanne S; Ruijter, Emiel E; Scheijen, Blanca B; Flucke, Uta U
Publication Date: 2019-02-08

Variant appearance in text: GNAS: 601C>A; R201S
PubMed Link: 30736805
Variant Present in the following documents:
  • Main text
  • 13000_2019_Article_787.pdf
View BVdb publication page



Cyst Fluid Biomarkers - Diagnosis and Prediction of Malignancy for Cystic Lesions of the Pancreas.

Visceral Medicine
Raman, Aadhithya A; Lennon, Anne Marie AM
Publication Date: 2018-07

Variant appearance in text: GNAS: R201S
PubMed Link: 30140682
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs11554273
PubMed Link: 29937994
Variant Present in the following documents:
  • oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: rs11554273
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 32
View BVdb publication page



Cortisol overproduction results from DNA methylation of CYP11B1 in hypercortisolemia.

Scientific Reports
Kometani, Mitsuhiro M; Yoneda, Takashi T; Demura, Masashi M; Koide, Hiroshi H; Nishimoto, Koshiro K; Mukai, Kuniaki K; Gomez-Sanchez, Celso E CE; Akagi, Tadayuki T; Yokota, Takashi T; Horike, Shin-Ichi SI; Karashima, Shigehiro S; Miyamori, Isamu I; Yamagishi, Masakazu M; Takeda, Yoshiyu Y
Publication Date: 2017-09-11

Variant appearance in text: GNAS: R201S
PubMed Link: 28894201
Variant Present in the following documents:
  • Main text
  • 41598_2017_11435_MOESM1_ESM.pdf
  • 41598_2017_Article_11435.pdf
View BVdb publication page



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: R201S
PubMed Link: 28588314
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_3093.pdf
View BVdb publication page



Morphology and genetics of pyloric gland adenomas in familial adenomatous polyposis.

Histopathology
Hackeng, Wenzel M WM; Montgomery, Elizabeth A EA; Giardiello, Francis M FM; Singhi, Aatur D AD; Debeljak, Marija M; Eshleman, James R JR; Vieth, Michael M; Offerhaus, G Johan GJ; Wood, Laura D LD; Brosens, Lodewijk A A LA
Publication Date: 2017-03

Variant appearance in text: GNAS: R201S
PubMed Link: 27767239
Variant Present in the following documents:
  • Main text
View BVdb publication page



The reliable assurance of detecting somatic mutations in cancer-related genes by next-generation sequencing: the results of external quality assessment in China.

Oncotarget
Zhang, Rui R; Ding, Jiansheng J; Han, Yanxi Y; Yi, Lang L; Xie, Jiehong J; Yang, Xin X; Fan, Gaowei G; Wang, Guojing G; Hao, Mingju M; Zhang, Dong D; Zhang, Kuo K; Lin, Guigao G; Li, Jinming J
Publication Date: 2016-09-06

Variant appearance in text: GNAS: 601C>A; Arg201Ser
PubMed Link: 27542269
Variant Present in the following documents:
  • Main text
  • oncotarget-07-58500.pdf
View BVdb publication page