GNAS c.602G>A ;(p.R201H)

Variant ID: 20-57484421-G-A

NM_000516.4(GNAS):c.602G>A;(p.R201H)

This variant was identified in 368 publications

View GRCh38 version.




Publications:


Efficacy of Systemic Chemotherapy in Patients With Low-grade Mucinous Appendiceal Adenocarcinoma: A Randomized Crossover Trial.

Jama Network Open
Shen, John Paul JP; Yousef, Abdelrahman M AM; Zeineddine, Fadl A FA; Zeineddine, Mohammad A MA; Tidwell, Rebecca S RS; Beaty, Karen A KA; Scofield, Lisa C LC; Rafeeq, Safia S; Hornstein, Nicholas N; Lano, Elizabeth E; Eng, Cathy C; Matamoros, Aurelio A; Foo, Wai Chin WC; Uppal, Abhineet A; Scally, Christopher C; Mansfield, Paul P; Taggart, Melissa M; Raghav, Kanwal P KP; Overman, Michael J MJ; Fournier, Keith K
Publication Date: 2023-06-01

Variant appearance in text: GNAS: R201H
PubMed Link: 37261831
Variant Present in the following documents:
  • jamanetwopen-e2316161-s001.pdf
View BVdb publication page



Mazabraud's syndrome: A case report supported by molecular studies and review of the literature.

Bone Reports
Kašpar, Ludvík L; Balko, Jan J; Strnadová, Martina M; Krsková, Lenka L; Máška, David D; Zámečník, Josef J
Publication Date: 2023-06

Variant appearance in text: GNAS: 602G>A
PubMed Link: 37250204
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Primary retroperitoneal mucinous cystic neoplasm of borderline malignancy with KRAS and GNAS co-mutation: a case report.

The Journal Of International Medical Research
Son, Seung-Myoung SM; Woo, Chang Gok CG; Yun, Seok Jung SJ; Lee, Ok-Jun OJ
Publication Date: 2023-05

Variant appearance in text: GNAS: 602G>A; Arg201His
PubMed Link: 37198972
Variant Present in the following documents:
  • Main text
  • 10.1177_03000605231172469.pdf
View BVdb publication page



Pituitary Tumorigenesis-Implications for Management.

Medicina (Kaunas, Lithuania)
Vamvoukaki, Rodanthi R; Chrysoulaki, Maria M; Betsi, Grigoria G; Xekouki, Paraskevi P
Publication Date: 2023-04-21

Variant appearance in text: GNAS: R201H
PubMed Link: 37109772
Variant Present in the following documents:
  • medicina-59-00812.pdf
View BVdb publication page



PTHrP Modulates the Proliferation and Osteogenic Differentiation of Craniofacial Fibrous Dysplasia-Derived BMSCs.

International Journal Of Molecular Sciences
Shen, Lihang L; He, Yang Y; Chen, Shuo S; He, Linhai L; Zhang, Yi Y
Publication Date: 2023-04-20

Variant appearance in text: GNAS: R201H
PubMed Link: 37108778
Variant Present in the following documents:
  • Main text
  • ijms-24-07616.pdf
View BVdb publication page



Pathogenic genomic alterations in Chinese pancreatic cancer patients and their therapeutical implications.

Cancer Medicine
Zhao, Zhiming Z; Li, Xiaomo X; Wang, Fei F; Xu, Yong Y; Liu, Si S; Han, Quanli Q; Yang, Zhiying Z; Huang, Weiwei W; Yin, Zhuzeng Z; Liu, Qu Q; Tan, Haidong H; Ma, Tonghui T; Si, Shuang S; Huang, Jia J; Yuan, Hongling H; Li, Wei W; Liu, Rong R
Publication Date: 2023-03-31

Variant appearance in text: GNAS: R201H
PubMed Link: 36999792
Variant Present in the following documents:
  • CAM4-12-11672.pdf
View BVdb publication page



The Role of Genetic, Metabolic, Inflammatory, and Immunologic Mediators in the Progression of Intraductal Papillary Mucinous Neoplasms to Pancreatic Adenocarcinoma.

Cancers
Shockley, Kylie E KE; To, Briana B; Chen, Wei W; Lozanski, Gerard G; Cruz-Monserrate, Zobeida Z; Krishna, Somashekar G SG
Publication Date: 2023-03-11

Variant appearance in text: GNAS: R201H
PubMed Link: 36980608
Variant Present in the following documents:
  • Main text
  • cancers-15-01722.pdf
View BVdb publication page



A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: GNAS: R201H
PubMed Link: 36914848
Variant Present in the following documents:
  • 41698_2023_366_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications
Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G
Publication Date: 2023-03-11

Variant appearance in text: GNAS: 602G>A; Arg201His
PubMed Link: 36906579
Variant Present in the following documents:
  • 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: GNAS: Arg201His; rs121913495
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
View BVdb publication page



Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.

Human Genomics
Yun, Jiwon J; Song, Hyojin H; Kim, Sung-Min SM; Kim, Soonok S; Kwon, Seok Ryun SR; Lee, Young Eun YE; Jeong, Dajeong D; Park, Jae Hyeon JH; Kwon, Sunghoon S; Yun, Hongseok H; Lee, Dong Soon DS
Publication Date: 2023-02-23

Variant appearance in text: GNAS: 602G>A; Arg201His
PubMed Link: 36814285
Variant Present in the following documents:
  • 40246_2023_458_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Colorectal adenosquamous carcinoma: genomic profiling of a rare histotype of colorectal cancer.

Virchows Archiv : An International Journal Of Pathology
Angerilli, Valentina V; Parente, Paola P; Businello, Gianluca G; Vanoli, Alessandro A; Paudice, Michele M; Perrone, Giovanni G; Munari, Giada G; Govoni, Ilaria I; Neri, Giuseppe G; Rebellato, Elena E; Parrella, Paola P; Grillo, Federica F; Mastracci, Luca L; Fassan, Matteo M
Publication Date: 2023-02-15

Variant appearance in text: GNAS: Arg201His
PubMed Link: 36790480
Variant Present in the following documents:
  • Main text
  • 428_2023_Article_3517.pdf
View BVdb publication page



Tumor-informed or tumor-agnostic circulating tumor DNA as a biomarker for risk of recurrence in resected colorectal cancer patients.

Frontiers In Oncology
Chan, Hiu Ting HT; Nagayama, Satoshi S; Otaki, Masumi M; Chin, Yoon Ming YM; Fukunaga, Yosuke Y; Ueno, Masashi M; Nakamura, Yusuke Y; Low, Siew-Kee SK
Publication Date: 2022

Variant appearance in text: GNAS: 602G>A; R201H
PubMed Link: 36776372
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 9
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: GNAS: 602G>A; R201H
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM7_ESM.xlsx, sheet 1
  • 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Dynamics of age- versus therapy-related clonal hematopoiesis in long-term survivors of pediatric cancer.

Cancer Discovery
Hagiwara, Kohei K; Natarajan, Sivaraman S; Wang, Zhaoming Z; Zubair, Haseeb H; Mulder, Heather L HL; Dong, Li L; Plyler, Emily M EM; Thimmaiah, Padma P; Ma, Xiaotu X; Ness, Kirsten K KK; Li, Zhenghong Z; Mulrooney, Daniel A DA; Wilson, Carmen L CL; Yasui, Yutaka Y; Hudson, Melissa M MM; Easton, John J; Robison, Leslie L LL; Zhang, Jinghui J
Publication Date: 2023-02-08

Variant appearance in text: GNAS: R201H
PubMed Link: 36751942
Variant Present in the following documents:
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 4
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 2
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 1
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: GNAS: R201H; rs121913495
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_8.xlsx, sheet 1
View BVdb publication page



The genetic profile and molecular subtypes of human pseudomyxoma peritonei and appendiceal mucinous neoplasms: a systematic review.

Cancer Metastasis Reviews
Murage, Nora Wangari NW; Ahmed, Nada Mabrouk NM; Underwood, Timothy J TJ; Walters, Zoë S ZS; Breininger, Stella Panagio SP
Publication Date: 2023-02-01

Variant appearance in text: GNAS: r201h
PubMed Link: 36723696
Variant Present in the following documents:
  • Main text
  • 10555_2023_Article_10088.pdf
View BVdb publication page



Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis.

Npj Genomic Medicine
Shaya, Justin J; Kato, Shumei S; Adashek, Jacob J JJ; Patel, Hitendra H; Fanta, Paul T PT; Botta, Gregory P GP; Sicklick, Jason K JK; Kurzrock, Razelle R
Publication Date: 2023-01-20

Variant appearance in text: GNAS: R201H
PubMed Link: 36670111
Variant Present in the following documents:
  • 41525_2022_Article_346.pdf
View BVdb publication page



Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science
Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K
Publication Date: 2023-01-05

Variant appearance in text: GNAS: 602G>A; R201H
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page



Detectability of Plasma-Derived Circulating Tumor DNA Panel in Patients Undergoing Primary Treatment for Uveal Melanoma.

Investigative Ophthalmology & Visual Science
Francis, Jasmine H JH; Barker, Christopher A CA; Brannon, A Rose AR; Canestraro, Julia J; Robbins, Melissa M; Swartzwelder, Christina E CE; Levine, Sara S; Law, Crystal C; Berger, Michael F MF; Shoushtari, Alexander A; Abramson, David H DH
Publication Date: 2022-12-01

Variant appearance in text: GNAS: R201H
PubMed Link: 36525262
Variant Present in the following documents:
  • Main text
  • iovs-63-13-17.pdf
View BVdb publication page



Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Jama Network Open
Liu, Ze-Xian ZX; Zhang, Xiao-Long XL; Zhao, Qi Q; Chen, Yungchang Y; Sheng, Hui H; He, Cai-Yun CY; Sun, Yu-Ting YT; Lai, Ming-Yu MY; Wu, Min-Qing MQ; Zuo, Zhi-Xiang ZX; Wang, Wei W; Zhou, Zhi-Wei ZW; Wang, Feng-Hua FH; Li, Yu-Hong YH; Xu, Rui-Hua RH; Qiu, Miao-Zhen MZ
Publication Date: 2022-12-01

Variant appearance in text: GNAS: R201H
PubMed Link: 36484990
Variant Present in the following documents:
  • jamanetwopen-e2245836-s002.xlsx, sheet 3
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: R201H
PubMed Link: 36470901
Variant Present in the following documents:
  • 41467_2022_35245_MOESM4_ESM.xlsx, sheet 17
View BVdb publication page



Concordance Between Recommendations From Multidisciplinary Molecular Tumor Boards and Central Consensus for Cancer Treatment in Japan.

Jama Network Open
Naito, Yoichi Y; Sunami, Kuniko K; Kage, Hidenori H; Komine, Keigo K; Amano, Toraji T; Imai, Mitsuho M; Koyama, Takafumi T; Ennishi, Daisuke D; Kanai, Masashi M; Kenmotsu, Hirotsugu H; Maeda, Takahiro T; Morita, Sachi S; Sakai, Daisuke D; Watanabe, Kousuke K; Shirota, Hidekazu H; Kinoshita, Ichiro I; Yoshioka, Masashiro M; Mamesaya, Nobuaki N; Ito, Mamoru M; Kohsaka, Shinji S; Saigusa, Yusuke Y; Yamamoto, Kouji K; Hirata, Makoto M; Tsuchihara, Katsuya K; Yoshino, Takayuki T
Publication Date: 2022-12-01

Variant appearance in text: GNAS: R201H
PubMed Link: 36469316
Variant Present in the following documents:
  • Main text
View BVdb publication page



NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.

Scientific Reports
Jung, Kwangrok K; Lee, Sejoon S; Na, Hee Young HY; Kim, Ji-Won JW; Lee, Jong-Chan JC; Hwang, Jin-Hyeok JH; Kim, Jin Won JW; Kim, Jaihwan J
Publication Date: 2022-12-03

Variant appearance in text: GNAS: 602G>A
PubMed Link: 36463295
Variant Present in the following documents:
  • 41598_2022_24732_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology
,
Publication Date: 2022-11-24

Variant appearance in text: GNAS: 602G>A
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
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: R201H
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: R201H
PubMed Link: 36428574
Variant Present in the following documents:
  • Main text
  • cancers-14-05480.pdf
View BVdb publication page



Molecular diagnosis of pancreatobiliary tract cancer by detecting mutations and methylation changes in bile samples.

Eclinicalmedicine
He, Shun S; Zeng, Fanxin F; Yin, Huihui H; Wang, Pei P; Bai, Yinlei Y; Song, Qianqian Q; Chu, Jiangtao J; Huang, Zhen Z; Liu, Yumeng Y; Liu, Hong H; Chen, Qichen Q; Liu, Li L; Zhou, Jun J; Hu, Hanjie H; Li, Xingchen X; Li, Tengyan T; Wang, Guiqi G; Cai, Jianqiang J; Jiao, Yuchen Y; Zhao, Hong H
Publication Date: 2023-01

Variant appearance in text: GNAS: 602G>A; Arg201His
PubMed Link: 36425869
Variant Present in the following documents:
  • mmc1.xlsx, sheet 8
  • mmc1.xlsx, sheet 4
View BVdb publication page



Why do tumor-infiltrating lymphocytes have variable efficacy in the treatment of solid tumors?

Frontiers In Immunology
Li, Biaoru B
Publication Date: 2022

Variant appearance in text: GNAS: R201H
PubMed Link: 36341370
Variant Present in the following documents:
  • fimmu-13-973881.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: 602G>A; R201H
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Tubulovillous adenoma with high-grade dysplasia of the vulva harboring high tumor mutational burden and cancer-associated mutations: a case report.

Diagnostic Pathology
Sato, Hanako H; Murakami, Kosuke K; Otani, Tomoyuki T; Matsumura, Noriomi N
Publication Date: 2022-10-28

Variant appearance in text: GNAS: R201H
PubMed Link: 36307835
Variant Present in the following documents:
  • Main text
  • 13000_2022_Article_1268.pdf
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: rs121913495
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.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: R201H
PubMed Link: 36170854
Variant Present in the following documents:
  • Main text
  • nihms-1837800.pdf
View BVdb publication page



Mechanisms of development and progression of pancreatic neoplasms.

Pathology International
Furukawa, Toru T
Publication Date: 2022-11

Variant appearance in text: GNAS: R201H
PubMed Link: 36161420
Variant Present in the following documents:
  • Main text
  • PIN-72-529.pdf
View BVdb publication page



Ultrasensitive tumour-agnostic non-invasive detection of colorectal cancer recurrence using ctDNA methylation.

Clinical And Translational Medicine
Xiao, Yu Y; Wang, Xiaodong X; Weng, Hong H; Ding, Zhao Z; Qian, Kaiyu K; Jin, Wan W; Lu, Sen S; Ju, Lingao L; He, Zhiwen Z; Wang, Gang G; Xie, Xiaoyu X; Liu, Dongmei D; Fan, Zhou Z; Wu, Kai K; Li, Sheng S; Guo, Huanhuan H; Qian, Guofeng G; Jiang, Wei W; Leng, Yunji Y; Zhao, Junpeng J; Cao, Xinyue X; Peng, Minsheng M; Jiang, Congqing C; Li, Li L; Zhang, Yi Y; Wang, Xinghuan X
Publication Date: 2022-09

Variant appearance in text: GNAS: 602G>A; R201H
PubMed Link: 36103400
Variant Present in the following documents:
  • CTM2-12-e1015-s002.xlsx, sheet 1
View BVdb publication page



DWI Metrics Differentiating Benign Intraductal Papillary Mucinous Neoplasms from Invasive Pancreatic Cancer: A Study in GEM Models.

Cancers
Romanello Joaquim, Miguel M; Furth, Emma E EE; Fan, Yong Y; Song, Hee Kwon HK; Pickup, Stephen S; Cao, Jianbo J; Choi, Hoon H; Gupta, Mamta M; Cao, Quy Q; Shinohara, Russell R; McMenamin, Deirdre D; Clendenin, Cynthia C; Karasic, Thomas B TB; Duda, Jeffrey J; Gee, James C JC; O'Dwyer, Peter J PJ; Rosen, Mark A MA; Zhou, Rong R
Publication Date: 2022-08-20

Variant appearance in text: GNAS: R201H
PubMed Link: 36011011
Variant Present in the following documents:
  • cancers-14-04017.pdf
View BVdb publication page



Osteosarcoma Arising in Fibrous Dysplasia of the Long Bone: Characteristic Images and Molecular Profiles.

Diagnostics (Basel, Switzerland)
Kim, Han Gyeol HG; Baek, Jong Hun JH; Na, Kiyong K
Publication Date: 2022-07-04

Variant appearance in text: GNAS: 602G>A; R201H
PubMed Link: 35885527
Variant Present in the following documents:
  • Main text
  • diagnostics-12-01622.pdf
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: R201H
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 2
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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: 602G>A; R201H
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
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Safety, recommended dose, efficacy and immune correlates for nintedanib in combination with pembrolizumab in patients with advanced cancers.

Journal Of Experimental & Clinical Cancer Research : Cr
Baldini, Capucine C; Danlos, Francois-Xavier FX; Varga, Andreea A; Texier, Matthieu M; Halse, Heloise H; Mouraud, Severine S; Cassard, Lydie L; Champiat, Stéphane S; Signolle, Nicolas N; Vuagnat, Perrine P; Martin-Romano, Patricia P; Michot, Jean-Marie JM; Bahleda, Rastislav R; Gazzah, Anas A; Boselli, Lisa L; Bredel, Delphine D; Grivel, Jonathan J; Mohamed-Djalim, Chifaou C; Escriou, Guillaume G; Grynszpan, Laetitia L; Bigorgne, Amelie A; Rafie, Saloomeh S; Abbassi, Alae A; Ribrag, Vincent V; Postel-Vinay, Sophie S; Hollebecque, Antoine A; Susini, Sandrine S; Farhane, Siham S; Lacroix, Ludovic L; Parpaleix, Aurelien A; Laghouati, Salim S; Zitvogel, Laurence L; Adam, Julien J; Chaput, Nathalie N; Soria, Jean-Charles JC; Massard, Christophe C; Marabelle, Aurelien A
Publication Date: 2022-07-07

Variant appearance in text: GNAS: Arg201His
PubMed Link: 35794623
Variant Present in the following documents:
  • 13046_2022_Article_2423.pdf
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Somatic targeted mutation profiling of colorectal cancer precursor lesions.

Bmc Medical Genomics
Dos Santos, Wellington W; Dos Reis, Mariana Bisarro MB; Porto, Jun J; de Carvalho, Ana Carolina AC; Matsushita, Marcus M; Oliveira, Gabriela G; Syrjänen, Kari K; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP
Publication Date: 2022-06-28

Variant appearance in text: GNAS: R201H; rs121913495
PubMed Link: 35761395
Variant Present in the following documents:
  • 12920_2022_1294_MOESM5_ESM.xlsx, sheet 1
  • 12920_2022_1294_MOESM6_ESM.xlsx, sheet 1
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AMH Regulation by Steroids in the Mammalian Testis: Underlying Mechanisms and Clinical Implications.

Frontiers In Endocrinology
Edelsztein, Nadia Y NY; Valeri, Clara C; Lovaisa, María M MM; Schteingart, Helena F HF; Rey, Rodolfo A RA
Publication Date: 2022

Variant appearance in text: GNAS1: R201H
PubMed Link: 35712256
Variant Present in the following documents:
  • fendo-13-906381.pdf
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Detection of microsatellite instability-high (MSI-H) by liquid biopsy predicts robust and durable response to immunotherapy in patients with pancreatic cancer.

Journal For Immunotherapy Of Cancer
Chakrabarti, Sakti S; Bucheit, Leslie L; Starr, Jason Scott JS; Innis-Shelton, Racquel R; Shergill, Ardaman A; Dada, Hiba H; Resta, Regina R; Wagner, Stephanie S; Fei, Naomi N; Kasi, Pashtoon Murtaza PM
Publication Date: 2022-06

Variant appearance in text: GNAS: R201H
PubMed Link: 35710297
Variant Present in the following documents:
  • Main text
  • jitc-2021-004485.pdf
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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: GNAS: R201H
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page