BRAF c.1802A>G ;(p.K601R)

Variant ID: 7-140453133-T-C

NM_004333.4(BRAF):c.1802A>G;(p.K601R)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


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: BRAF: K601R
PubMed Link: 36906579
Variant Present in the following documents:
  • 41467_2023_36922_MOESM4_ESM.xls, sheet 2
View BVdb publication page



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

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: BRAF: 1802A>G; Lys601Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Utilisation of semiconductor sequencing for the detection of predictive biomarkers in glioblastoma.

Plos One
Williams, Gareth G; Llewelyn, Alexander A; Thatcher, Robert R; Hardisty, Keeda-Marie KM; Loddo, Marco M
Publication Date: 2022

Variant appearance in text: rs397507484
PubMed Link: 35324914
Variant Present in the following documents:
  • pone.0245817.s005.pdf
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: BRAF: K601R
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 12
View BVdb publication page



The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer
Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J
Publication Date: 2022-02

Variant appearance in text: BRAF: Lys601Arg
PubMed Link: 35221333
Variant Present in the following documents:
  • 43018_2022_332_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Acetylation-dependent regulation of BRAF oncogenic function.

Cell Reports
Dai, Xiangpeng X; Zhang, Xiaoling X; Yin, Qing Q; Hu, Jia J; Guo, Jianping J; Gao, Yang Y; Snell, Aidan H AH; Inuzuka, Hiroyuki H; Wan, Lixin L; Wei, Wenyi W
Publication Date: 2022-01-18

Variant appearance in text: BRAF: K601R
PubMed Link: 35045286
Variant Present in the following documents:
  • Main text
  • nihms-1772773.pdf
  • NIHMS1772773-supplement-1.pdf
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Acetylation-dependent regulation of BRAF oncogenic function.

Cell Reports
Dai, Xiangpeng X; Zhang, Xiaoling X; Yin, Qing Q; Hu, Jia J; Guo, Jianping J; Gao, Yang Y; Snell, Aidan H AH; Inuzuka, Hiroyuki H; Wan, Lixin L; Wei, Wenyi W
Publication Date: 2022-01-18

Variant appearance in text: BRAF: K601R
PubMed Link: 35045286
Variant Present in the following documents:
  • Main text
  • nihms-1772773.pdf
  • NIHMS1772773-supplement-1.pdf
View BVdb publication page



High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.

Jto Clinical And Research Reports
Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K
Publication Date: 2021-07

Variant appearance in text: rs397507484
PubMed Link: 34590037
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica
Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS
Publication Date: 2022-08-01

Variant appearance in text: BRAF: 1802A>G; Lys601Arg
PubMed Link: 34587721
Variant Present in the following documents:
  • 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf
View BVdb publication page



Usefulness of monitoring circulating tumor cells as a therapeutic biomarker in melanoma with BRAF mutation.

Bmc Cancer
Kiniwa, Yukiko Y; Nakamura, Kenta K; Mikoshiba, Asuka A; Ashida, Atsuko A; Akiyama, Yasuyuki Y; Morimoto, Atsushi A; Okuyama, Ryuhei R
Publication Date: 2021-03-17

Variant appearance in text: BRAF: K601R
PubMed Link: 33731038
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8016.pdf
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: rs397507484
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Circulating tumour DNA in metastatic breast cancer to guide clinical trial enrolment and precision oncology: A cohort study.

Plos Medicine
Zivanovic Bujak, Andjelija A; Weng, Chen-Fang CF; Silva, Maria João MJ; Yeung, Miriam M; Lo, Louisa L; Ftouni, Sarah S; Litchfield, Cassandra C; Ko, Yi-An YA; Kuykhoven, Keilly K; Van Geelen, Courtney C; Chandrashekar, Sushma S; Dawson, Mark A MA; Loi, Sherene S; Wong, Stephen Q SQ; Dawson, Sarah-Jane SJ
Publication Date: 2020-10

Variant appearance in text: BRAF: K601R
PubMed Link: 33001984
Variant Present in the following documents:
  • pmed.1003363.s013.xlsx, sheet 1
View BVdb publication page



Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Publication Date: 2018-07-27

Variant appearance in text: BRAF: K601R
PubMed Link: 30053901
Variant Present in the following documents:
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 3
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: K601R
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page



From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Genome Medicine
Perera-Bel, Júlia J; Hutter, Barbara B; Heining, Christoph C; Bleckmann, Annalen A; Fröhlich, Martina M; Fröhling, Stefan S; Glimm, Hanno H; Brors, Benedikt B; Beißbarth, Tim T
Publication Date: 2018-03-15

Variant appearance in text: BRAF: K601R
PubMed Link: 29544535
Variant Present in the following documents:
  • 13073_2018_529_MOESM5_ESM.pdf
View BVdb publication page



Variables that influence BRAF mutation probability: A next-generation sequencing, non-interventional investigation of BRAFV600 mutation status in melanoma.

Plos One
Gaiser, Maria Rita MR; Skorokhod, Alexander A; Gransheier, Diana D; Weide, Benjamin B; Koch, Winfried W; Schif, Birgit B; Enk, Alexander A; Garbe, Claus C; Bauer, Jürgen J
Publication Date: 2017

Variant appearance in text: BRAF: K601R
PubMed Link: 29176861
Variant Present in the following documents:
  • Main text
  • pone.0188602.pdf
View BVdb publication page



Significant Improvement in Detecting BRAF, KRAS, and EGFR Mutations Using Next-Generation Sequencing as Compared with FDA-Cleared Kits.

Molecular Diagnosis & Therapy
Ma, Wanlong W; Brodie, Steven S; Agersborg, Sally S; Funari, Vincent A VA; Albitar, Maher M
Publication Date: 2017-10

Variant appearance in text: BRAF: 1802A>G; Lys601Arg
PubMed Link: 28639239
Variant Present in the following documents:
  • Main text
  • 40291_2017_Article_290.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: BRAF: 1802A>G; K601R
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Association of BRAF V600E Mutation and MicroRNA Expression with Central Lymph Node Metastases in Papillary Thyroid Cancer: A Prospective Study from Four Endocrine Surgery Centers.

Thyroid : Official Journal Of The American Thyroid Association
Han, Patricia Aragon PA; Kim, Hyun-seok HS; Cho, Soonweng S; Fazeli, Roghayeh R; Najafian, Alireza A; Khawaja, Hunain H; McAlexander, Melissa M; Dy, Benzon B; Sorensen, Meredith M; Aronova, Anna A; Sebo, Thomas J TJ; Giordano, Thomas J TJ; Fahey, Thomas J TJ; Thompson, Geoffrey B GB; Gauger, Paul G PG; Somervell, Helina H; Bishop, Justin A JA; Eshleman, James R JR; Schneider, Eric B EB; Witwer, Kenneth W KW; Umbricht, Christopher B CB; Zeiger, Martha A MA
Publication Date: 2016-04

Variant appearance in text: BRAF: K601R
PubMed Link: 26950846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology
Kiel, Christina C; Serrano, Luis L
Publication Date: 2014-05-06

Variant appearance in text: BRAF: K601R
PubMed Link: 24803665
Variant Present in the following documents:
  • MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page



Automated universal BRAF state detection within the activation segment in skin metastases by pyrosequencing-based assay U-BRAF(V600).

Plos One
Skorokhod, Alexander A; Helmbold, Peter P; Brors, Benedikt B; Schirmacher, Peter P; Enk, Alexander A; Penzel, Roland R
Publication Date: 2013

Variant appearance in text: BRAF: K601R
PubMed Link: 23555633
Variant Present in the following documents:
  • Main text
  • pone.0059221.s002.pdf
  • pone.0059221.pdf
View BVdb publication page



Polyclonality of BRAF mutations in primary melanoma and the selection of mutant alleles during progression.

British Journal Of Cancer
Lin, J J; Goto, Y Y; Murata, H H; Sakaizawa, K K; Uchiyama, A A; Saida, T T; Takata, M M
Publication Date: 2011-02-01

Variant appearance in text: BRAF: K601R
PubMed Link: 21224857
Variant Present in the following documents:
  • Main text
  • 6606072a.pdf
View BVdb publication page