Publications:

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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

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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

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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: rs11554273

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

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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

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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

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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

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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

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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

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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

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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

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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: rs11554273

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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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

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Analysis of genetic alterations identifies the frequent mutation of GNAS in colorectal laterally spreading tumors.

Cancer Communications (London, England)

Nong, Yanying Y; Zhang, Yuru Y; Zhang, Yi Y; Pan, Lei L; Chen, Junsheng J; Zhu, Chaojun C; Han, Lu L; Li, Aimin A; Liu, Side S

Publication Date: 2020-11

Variant appearance in text: rs11554273

PubMed Link: 32762003

Variant Present in the following documents:

• CAC2-40-636-s001.pdf

View BVdb publication page

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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

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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

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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

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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

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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: R201G

PubMed Link: 31337866

Variant Present in the following documents:

• 41388_2019_Article_895.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: rs11554273

PubMed Link: 30857943

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: GNAS: 601C>G; R201G

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

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

Publication Date: 2018-06-08

Variant appearance in text: rs11554273

PubMed Link: 29937994

Variant Present in the following documents:

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

View BVdb publication page

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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

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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: R201G

PubMed Link: 28588314

Variant Present in the following documents:

• Main text
• 41598_2017_Article_3093.pdf

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

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

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: GNAS: R201G; rs11554273

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 3

View BVdb publication page

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A multigene mutation classification of 468 colorectal cancers reveals a prognostic role for APC.

Nature Communications

Schell, Michael J MJ; Yang, Mingli M; Teer, Jamie K JK; Lo, Fang Yin FY; Madan, Anup A; Coppola, Domenico D; Monteiro, Alvaro N A AN; Nebozhyn, Michael V MV; Yue, Binglin B; Loboda, Andrey A; Bien-Willner, Gabriel A GA; Greenawalt, Danielle M DM; Yeatman, Timothy J TJ

Publication Date: 2016-06-15

Variant appearance in text: rs11554273

PubMed Link: 27302369

Variant Present in the following documents:

• ncomms11743-s2.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs11554273

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: R201G

PubMed Link: 26574629

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: rs11554273

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Mutations in the Kinase Domain of the HER2/ERBB2 Gene Identified in a Wide Variety of Human Cancers.

The Journal Of Molecular Diagnostics : Jmd

Wen, Wenhsiang W; Chen, Wangjuh Sting WS; Xiao, Nick N; Bender, Ryan R; Ghazalpour, Anatole A; Tan, Zheng Z; Swensen, Jeffrey J; Millis, Sherri Z SZ; Basu, Gargi G; Gatalica, Zoran Z; Press, Michael F MF

Publication Date: 2015-09

Variant appearance in text: GNAS: R201G

PubMed Link: 26320869

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GNAS: R201G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

The Journal Of Investigative Dermatology

Siroy, Alan E AE; Boland, Genevieve M GM; Milton, Denái R DR; Roszik, Jason J; Frankian, Silva S; Malke, Jared J; Haydu, Lauren L; Prieto, Victor G VG; Tetzlaff, Michael M; Ivan, Doina D; Wang, Wei-Lien WL; Torres-Cabala, Carlos C; Curry, Jonathan J; Roy-Chowdhuri, Sinchita S; Broaddus, Russell R; Rashid, Asif A; Stewart, John J; Gershenwald, Jeffrey E JE; Amaria, Rodabe N RN; Patel, Sapna P SP; Papadopoulos, Nicholas E NE; Bedikian, Agop A; Hwu, Wen-Jen WJ; Hwu, Patrick P; Diab, Adi A; Woodman, Scott E SE; Aldape, Kenneth D KD; Luthra, Rajyalakshmi R; Patel, Keyur P KP; Shaw, Kenna R KR; Mills, Gordon B GB; Mendelsohn, John J; Meric-Bernstam, Funda F; Kim, Kevin B KB; Routbort, Mark J MJ; Lazar, Alexander J AJ; Davies, Michael A MA

Publication Date: 2015-02

Variant appearance in text: GNAS: 601C>G; R201G

PubMed Link: 25148578

Variant Present in the following documents:

• NIHMS622327-supplement-supplement_1.pdf

View BVdb publication page

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Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.

Molecular And Cellular Endocrinology

Salpea, Paraskevi P; Stratakis, Constantine A CA

Publication Date: 2014-04-05

Variant appearance in text: GNAS: R201G

PubMed Link: 24012779

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: GNAS: R201G

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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Mutant GNAS detected in duodenal collections of secretin-stimulated pancreatic juice indicates the presence or emergence of pancreatic cysts.

Gut

Kanda, Mitsuro M; Knight, Spencer S; Topazian, Mark M; Syngal, Sapna S; Farrell, James J; Lee, Jeffrey J; Kamel, Ihab I; Lennon, Anne Marie AM; Borges, Michael M; Young, Angela A; Fujiwara, Sho S; Seike, Junro J; Eshleman, James J; Hruban, Ralph H RH; Canto, Marcia Irene MI; Goggins, Michael M

Publication Date: 2013-07

Variant appearance in text: GNAS: R201G

PubMed Link: 22859495

Variant Present in the following documents:

• Main text

View BVdb publication page

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Primary bimorphic adrenocortical disease: cause of hypercortisolism in McCune-Albright syndrome.

The American Journal Of Surgical Pathology

Carney, J Aidan JA; Young, William F WF; Stratakis, Constantine A CA

Publication Date: 2011-09

Variant appearance in text: GNAS1: R201G

PubMed Link: 21836496

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: N/A

PubMed Link: 19139070

Variant Present in the following documents:

View BVdb publication page

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Age-dependent demise of GNAS-mutated skeletal stem cells and "normalization" of fibrous dysplasia of bone.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Kuznetsov, Sergei A SA; Cherman, Natasha N; Riminucci, Mara M; Collins, Michael T MT; Robey, Pamela Gehron PG; Bianco, Paolo P

Publication Date: 2008-11

Variant appearance in text: GNAS: R201G

PubMed Link: 18597624

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome.

Nucleic Acids Research

Karadag, Abdullah A; Riminucci, Mara M; Bianco, Paolo P; Cherman, Natasha N; Kuznetsov, Sergei A SA; Nguyen, Nga N; Collins, Michael T MT; Robey, Pamela G PG; Fisher, Larry W LW

Publication Date: 2004-04-19

Variant appearance in text: GNAS: R201G

PubMed Link: 15096559

Variant Present in the following documents:

• Main text

View BVdb publication page

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