BRAF c.1808G>A ;(p.R603Q)

Variant ID: 7-140453127-C-T

NM_004333.4(BRAF):c.1808G>A;(p.R603Q)

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas.

Cancer Medicine
Varadi, Melinda M; Nagy, Nikolett N; Reis, Henning H; Hadaschik, Boris B; Niedworok, Christian C; Modos, Orsolya O; Szendroi, Attila A; Ablat, Jason J; Black, Peter C PC; Keresztes, David D; Csizmarik, Anita A; Olah, Csilla C; Gaisa, Nadine T NT; Kiss, Andras A; Timar, Jozsef J; Toth, Erika E; Csernak, Erzsebet E; Gerstner, Arpad A; Mittal, Vinay V; Karkampouna, Sofia S; Kruithof de Julio, Marianna M; Gyorffy, Balazs B; Bedics, Gabor G; Rink, Michael M; Fisch, Margit M; Nyirady, Peter P; Szarvas, Tibor T
Publication Date: 2023-01-20

Variant appearance in text: BRAF: Arg603Gln
PubMed Link: 36670542
Variant Present in the following documents:
  • CAM4-12-9041-s001.xlsx, sheet 1
View BVdb publication page



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: BRAF: R603Q
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications
Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA
Publication Date: 2022-10

Variant appearance in text: BRAF: 1808G>A; R603Q
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.xlsx, sheet 6
View BVdb publication page



Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study.

Blood Advances
Kemps, Paul Geraeds PG; Zondag, Timo Ce TC; Arnardóttir, Helga Björk HB; Solleveld-Westerink, Nienke N; Borst, Jelske J; Steenwijk, Eline Christine EC; van Egmond, Demi D; Swennenhuis, Joost F JF; Stelloo, Ellen E; Trambusti, Irene I; Verdijk, Robert M RM; van Noesel, Carel Jm CJ; Cleven, Arjen Hg AH; Scheijde-Vermeulen, Marijn M; Koudijs, Marco J MJ; Krsková, Lenka L; Hawkins, Cynthia C; Egeler, Rudolph Maarten RM; Brok, Jesper J; von Bahr Greenwood, Tatiana T; Svojgr, Karel K; Beishuizen, Auke A; van Laar, Jan Am JA; Poetschger, Ulrike U; Hutter, Caroline C; Sieni, Elena E; Minkov, Milen M; Abla, Oussama O; van Wezel, Tom T; van den Bos, Cor C; van Halteren, Astrid G S AGS
Publication Date: 2022-09-09

Variant appearance in text: BRAF: 1808G>A; R603Q
PubMed Link: 36083130
Variant Present in the following documents:
  • Main text
  • main.pdf
  • BLOODA_ADV-2022-007947-mmc1.pdf
View BVdb publication page



Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.

Nature Genetics
Rouhani, Foad J FJ; Zou, Xueqing X; Danecek, Petr P; Badja, Cherif C; Amarante, Tauanne Dias TD; Koh, Gene G; Wu, Qianxin Q; Memari, Yasin Y; Durbin, Richard R; Martincorena, Inigo I; Bassett, Andrew R AR; Gaffney, Daniel D; Nik-Zainal, Serena S
Publication Date: 2022-09

Variant appearance in text: BRAF: R603Q
PubMed Link: 35953586
Variant Present in the following documents:
  • 41588_2022_1147_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: BRAF: 1808G>A; Arg603Gln
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer
Stein, Alexander A; Simnica, Donjete D; Schultheiß, Christoph C; Scholz, Rebekka R; Tintelnot, Joseph J; Gökkurt, Eray E; von Wenserski, Lisa L; Willscher, Edith E; Paschold, Lisa L; Sauer, Markus M; Lorenzen, Sylvie S; Riera-Knorrenschild, Jorge J; Depenbusch, Reinhard R; Ettrich, Thomas J TJ; Dörfel, Steffen S; Al-Batran, Salah-Eddin SE; Karthaus, Meinolf M; Pelzer, Uwe U; Waberer, Lisa L; Hinke, Axel A; Bauer, Marcus M; Massa, Chiara C; Seliger, Barbara B; Wickenhauser, Claudia C; Bokemeyer, Carsten C; Hegewisch-Becker, Susanna S; Binder, Mascha M
Publication Date: 2021-07

Variant appearance in text: BRAF: 1808G>A; Arg603Gln
PubMed Link: 34315821
Variant Present in the following documents:
  • jitc-2021-002844supp002.xlsx, sheet 1
View BVdb publication page



Correlation of genetic alterations by whole-exome sequencing with clinical outcomes of glioblastoma patients from the Lebanese population.

Plos One
Saadeh, Fadi S FS; Morsi, Rami Z RZ; El-Kurdi, Abdallah A; Nemer, Georges G; Mahfouz, Rami R; Charafeddine, Maya M; Khoury, Jessica J; Najjar, Marwan W MW; Khoueiry, Pierre P; Assi, Hazem I HI
Publication Date: 2020

Variant appearance in text: BRAF: R603Q; rs372569965
PubMed Link: 33237934
Variant Present in the following documents:
  • pone.0242793.s003.xlsx, sheet 1
View BVdb publication page



Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

Clinical And Translational Medicine
He, Cai-Yun CY; Qiu, Miao-Zhen MZ; Yang, Xin-Hua XH; Zhou, Da-Lei DL; Ma, Jiang-Jun JJ; Long, Ya-Kang YK; Ye, Zu-Lu ZL; Xu, Bo-Heng BH; Zhao, Qi Q; Jin, Ying Y; Lu, Shi-Xun SX; Wang, Zhi-Qiang ZQ; Guan, Wen-Long WL; Zhao, Bai-Wei BW; Zhou, Zhi-Wei ZW; Shao, Jian-Yong JY; Xu, Rui-Hua RH
Publication Date: 2020-01

Variant appearance in text: BRAF: 1808G>A; Arg603Gln; rs372569965
PubMed Link: 32508039
Variant Present in the following documents:
  • CTM2-10-353-s003.xlsx, sheet 3
View BVdb publication page



BRAF Exon 15 Mutations in Papillary Carcinoma and Adjacent Thyroid Parenchyma: A Search for the Early Molecular Events Associated with Tumor Development.

Cancers
Acquaviva, Giorgia G; de Biase, Dario D; Diquigiovanni, Chiara C; Argento, Chiara Maria CM; De Leo, Antonio A; Bonora, Elena E; Rhoden, Kerry Jane KJ; Pession, Annalisa A; Tallini, Giovanni G
Publication Date: 2020-02-12

Variant appearance in text: BRAF: R603Q
PubMed Link: 32059434
Variant Present in the following documents:
  • Main text
  • cancers-12-00430.pdf
View BVdb publication page



Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Nature Medicine
Durham, Benjamin H BH; Lopez Rodrigo, Estibaliz E; Picarsic, Jennifer J; Abramson, David D; Rotemberg, Veronica V; De Munck, Steven S; Pannecoucke, Erwin E; Lu, Sydney X SX; Pastore, Alessandro A; Yoshimi, Akihide A; Mandelker, Diana D; Ceyhan-Birsoy, Ozge O; Ulaner, Gary A GA; Walsh, Michael M; Yabe, Mariko M; Petrova-Drus, Kseniya K; Arcila, Maria E ME; Ladanyi, Marc M; Solit, David B DB; Berger, Michael F MF; Hyman, David M DM; Lacouture, Mario E ME; Erickson, Caroline C; Saganty, Ruth R; Ki, Michelle M; Dunkel, Ira J IJ; Santa-María López, Vicente V; Mora, Jaume J; Haroche, Julien J; Emile, Jean-Francois JF; Decaux, Olivier O; Geissmann, Frederic F; Savvides, Savvas N SN; Drilon, Alexander A; Diamond, Eli L EL; Abdel-Wahab, Omar O
Publication Date: 2019-12

Variant appearance in text: BRAF: R603Q
PubMed Link: 31768065
Variant Present in the following documents:
  • NIHMS1541330-supplement-1.pdf
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: BRAF: Arg603Gln
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Journal Of The American Heart Association
Calvete, Oriol O; Garcia-Pavia, Pablo P; Domínguez, Fernando F; Mosteiro, Lluc L; Pérez-Cabornero, Lucía L; Cantalapiedra, Diego D; Zorio, Esther E; Ramón Y Cajal, Teresa T; Crespo-Leiro, Maria G MG; Teulé, Álex Á; Lázaro, Conxi C; Morente, Manuel M MM; Urioste, Miguel M; Benitez, Javier J
Publication Date: 2019-09-17

Variant appearance in text: BRAF: Arg603Gln
PubMed Link: 31510873
Variant Present in the following documents:
  • JAH3-8-e012875.pdf
View BVdb publication page



Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies.

Ebiomedicine
Visioli, Alberto A; Giani, Fabrizio F; Trivieri, Nadia N; Pracella, Riccardo R; Miccinilli, Elide E; Cariglia, Maria Grazia MG; Palumbo, Orazio O; Arleo, Andrea A; Dezi, Fabio F; Copetti, Massimiliano M; Cajola, Laura L; Restelli, Silvia S; Papa, Valerio V; Sciuto, Antonio A; Latiano, Tiziana Pia TP; Carella, Massimo M; Amadori, Dino D; Gallerani, Giulia G; Ricci, Riccardo R; Alfieri, Sergio S; Pesole, Graziano G; Vescovi, Angelo L AL; Binda, Elena E
Publication Date: 2019-06

Variant appearance in text: BRAF: 1808G>A; R603Q
PubMed Link: 31056474
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Early-stage serrated adenocarcinomas are divided into several molecularly distinct subtypes.

Plos One
Hirano, Daiki D; Urabe, Yuji Y; Tanaka, Shinji S; Nakamura, Koki K; Ninomiya, Yuki Y; Yuge, Ryo R; Hayashi, Ryohei R; Oka, Shiro S; Kitadai, Yasuhiko Y; Shimamoto, Fumio F; Arihiro, Koji K; Chayama, Kazuaki K
Publication Date: 2019

Variant appearance in text: BRAF: R603Q
PubMed Link: 30785889
Variant Present in the following documents:
  • Main text
  • pone.0211477.pdf
View BVdb publication page



Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.

The Journal Of Investigative Dermatology
Thomas, Nancy E NE; Edmiston, Sharon N SN; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Gibbs, David C DC; Parrish, Eloise A EA; Hao, Honglin H; Busam, Klaus J KJ; Armstrong, Bruce K BK; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Conway, Kathleen K; ,
Publication Date: 2018-11

Variant appearance in text: BRAF: R603Q
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: BRAF: R603Q
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Associations of MC1R Genotype and Patient Phenotypes with BRAF and NRAS Mutations in Melanoma.

The Journal Of Investigative Dermatology
Thomas, Nancy E NE; Edmiston, Sharon N SN; Kanetsky, Peter A PA; Busam, Klaus J KJ; Kricker, Anne A; Armstrong, Bruce K BK; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Luo, Li L; Orlow, Irene I; Reiner, Anne S AS; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Parrish, Eloise A EA; Hao, Honglin H; Gibbs, David C DC; Frank, Jill S JS; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Conway, Kathleen K; ,
Publication Date: 2017-12

Variant appearance in text: BRAF: R603Q
PubMed Link: 28842324
Variant Present in the following documents:
  • Main text
View BVdb publication page



Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications
Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ
Publication Date: 2017-05-11

Variant appearance in text: BRAF: 1808G>A; rs372569965
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.

Advances In Bioinformatics
Hassan, Mohamed M MM; Omer, Shaza E SE; Khalf-Allah, Rahma M RM; Mustafa, Razaz Y RY; Ali, Isra S IS; Mohamed, Sofia B SB
Publication Date: 2016

Variant appearance in text: BRAF: R603Q; rs372569965
PubMed Link: 27478437
Variant Present in the following documents:
  • Main text
  • ABI2016-2632917.pdf
View BVdb publication page



Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms.

Cancer Discovery
Diamond, Eli L EL; Durham, Benjamin H BH; Haroche, Julien J; Yao, Zhan Z; Ma, Jing J; Parikh, Sameer A SA; Wang, Zhaoming Z; Choi, John J; Kim, Eunhee E; Cohen-Aubart, Fleur F; Lee, Stanley Chun-Wei SC; Gao, Yijun Y; Micol, Jean-Baptiste JB; Campbell, Patrick P; Walsh, Michael P MP; Sylvester, Brooke B; Dolgalev, Igor I; Aminova, Olga O; Heguy, Adriana A; Zappile, Paul P; Nakitandwe, Joy J; Ganzel, Chezi C; Dalton, James D JD; Ellison, David W DW; Estrada-Veras, Juvianee J; Lacouture, Mario M; Gahl, William A WA; Stephens, Philip J PJ; Miller, Vincent A VA; Ross, Jeffrey S JS; Ali, Siraj M SM; Briggs, Samuel R SR; Fasan, Omotayo O; Block, Jared J; Héritier, Sebastien S; Donadieu, Jean J; Solit, David B DB; Hyman, David M DM; Baselga, José J; Janku, Filip F; Taylor, Barry S BS; Park, Christopher Y CY; Amoura, Zahir Z; Dogan, Ahmet A; Emile, Jean-Francois JF; Rosen, Neal N; Gruber, Tanja A TA; Abdel-Wahab, Omar O
Publication Date: 2016-02

Variant appearance in text: BRAF: R603Q
PubMed Link: 26566875
Variant Present in the following documents:
  • Main text
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: BRAF: R603Q
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page



Identification of new biomarkers for human papillary thyroid carcinoma employing NanoString analysis.

Oncotarget
Chitikova, Zhanna Z; Pusztaszeri, Marc M; Makhlouf, Anne-Marie AM; Berczy, Margaret M; Delucinge-Vivier, Celine C; Triponez, Frederic F; Meyer, Patrick P; Philippe, Jacques J; Dibner, Charna C
Publication Date: 2015-05-10

Variant appearance in text: BRAF: R603Q
PubMed Link: 25868389
Variant Present in the following documents:
  • Main text
  • oncotarget-06-10978.pdf
View BVdb publication page



NRAS and BRAF mutations in melanoma-associated nevi and uninvolved nevi.

Plos One
Tschandl, Philipp P; Berghoff, Anna Sophie AS; Preusser, Matthias M; Burgstaller-Muehlbacher, Sebastian S; Pehamberger, Hubert H; Okamoto, Ichiro I; Kittler, Harald H
Publication Date: 2013

Variant appearance in text: BRAF: R603Q
PubMed Link: 23861977
Variant Present in the following documents:
  • Main text
  • pone.0069639.pdf
View BVdb publication page