BRAF c.1040G>A ;(p.R347Q)

Variant ID: 7-140494208-C-T

NM_004333.4(BRAF):c.1040G>A;(p.R347Q)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: BRAF: R347Q
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
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: BRAF: 1040G>A; R347H
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal
Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-07-04

Variant appearance in text: BRAF: R347Q; rs397516884
PubMed Link: 35788129
Variant Present in the following documents:
  • 41408_2022_699_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06

Variant appearance in text: BRAF: 1040G>A
PubMed Link: 35617825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

International Journal Of Molecular Medicine
Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R
Publication Date: 2022-05

Variant appearance in text: BRAF: 1040G>A; Arg347Gln
PubMed Link: 35244186
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
View BVdb publication page



KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers
Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A
Publication Date: 2022-01-28

Variant appearance in text: BRAF: R347Q
PubMed Link: 35158933
Variant Present in the following documents:
  • Main text
  • cancers-14-00666.pdf
View BVdb publication page



KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers
Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A
Publication Date: 2022-01-28

Variant appearance in text: BRAF: R347Q
PubMed Link: 35158933
Variant Present in the following documents:
  • Main text
  • cancers-14-00666.pdf
View BVdb publication page



Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers.

Scientific Reports
Gilson, Pauline P; Levy, Julien J; Rouyer, Marie M; Demange, Jessica J; Husson, Marie M; Bonnet, Céline C; Salleron, Julia J; Leroux, Agnès A; Merlin, Jean-Louis JL; Harlé, Alexandre A
Publication Date: 2020-10-02

Variant appearance in text: BRAF: 1040G>A
PubMed Link: 33009475
Variant Present in the following documents:
  • 41598_2020_73421_MOESM1_ESM.pdf
View BVdb publication page



Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Robbe, Pauline P; Popitsch, Niko N; Knight, Samantha J L SJL; Antoniou, Pavlos P; Becq, Jennifer J; He, Miao M; Kanapin, Alexander A; Samsonova, Anastasia A; Vavoulis, Dimitrios V DV; Ross, Mark T MT; Kingsbury, Zoya Z; Cabes, Maite M; Ramos, Sara D C SDC; Page, Suzanne S; Dreau, Helene H; Ridout, Kate K; Jones, Louise J LJ; Tuff-Lacey, Alice A; Henderson, Shirley S; Mason, Joanne J; Buffa, Francesca M FM; Verrill, Clare C; Maldonado-Perez, David D; Roxanis, Ioannis I; Collantes, Elena E; Browning, Lisa L; Dhar, Sunanda S; Damato, Stephen S; Davies, Susan S; Caulfield, Mark M; Bentley, David R DR; Taylor, Jenny C JC; Turnbull, Clare C; Schuh, Anna A; ,
Publication Date: 2018-10

Variant appearance in text: BRAF: 1040G>A
PubMed Link: 29388947
Variant Present in the following documents:
  • EMS82826-supplement-3.xlsx, sheet 11
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: BRAF: 1040G>A
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
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: 1040G>A; rs397516884
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



Comprehensive molecular pathology analysis of small bowel adenocarcinoma reveals novel targets with potential for clinical utility.

Oncotarget
Alvi, Muhammad A MA; McArt, Darragh G DG; Kelly, Paul P; Fuchs, Marc-Aurel MA; Alderdice, Matthew M; McCabe, Clare M CM; Bingham, Victoria V; McGready, Claire C; Tripathi, Shailesh S; Emmert-Streib, Frank F; Loughrey, Maurice B MB; McQuaid, Stephen S; Maxwell, Perry P; Hamilton, Peter W PW; Turkington, Richard R; James, Jacqueline A JA; Wilson, Richard H RH; Salto-Tellez, Manuel M
Publication Date: 2015-08-28

Variant appearance in text: BRAF: 1040G>A
PubMed Link: 26315110
Variant Present in the following documents:
  • oncotarget-06-20863-s002.xlsx, sheet 1
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: BRAF: 1040G>A; Arg347His
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
View BVdb publication page



Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.

The Journal Of Investigative Dermatology
Levinsohn, Jonathan L JL; Tian, Li C LC; Boyden, Lynn M LM; McNiff, Jennifer M JM; Narayan, Deepak D; Loring, Erin S ES; Yun, Duri D; Sugarman, Jeffrey L JL; Overton, John D JD; Mane, Shrikant M SM; Lifton, Richard P RP; Paller, Amy S AS; Wagner, Annette M AM; Antaya, Richard J RJ; Choate, Keith A KA
Publication Date: 2013-03

Variant appearance in text: BRAF: Arg347Gln
PubMed Link: 23096712
Variant Present in the following documents:
  • Main text
  • nihms407008.pdf
View BVdb publication page