BRAF c.1798_1799delinsCA ;(p.V600Q)

Variant ID: 7-140453136-AC-TG

NM_004333.4(BRAF):c.1798_1799delinsCA;(p.V600Q)

This variant was identified in 22 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: V600Q
PubMed Link: 36906579
Variant Present in the following documents:
  • 41467_2023_36922_MOESM4_ESM.xls, sheet 2
View BVdb publication page



Pathogenic and Prognostic Roles of Paraneoplastic Leukocytosis in Cervical Cancer: Can Genomic-Based Targeted Therapies Have a Role? A Literature Review and an Emblematic Case Report.

Diagnostics (Basel, Switzerland)
Madeddu, Clelia C; Sanna, Elisabetta E; Nemolato, Sonia S; Mulas, Olga O; Oppi, Sara S; Scartozzi, Mario M; La Nasa, Giorgio G; Maccio, Antonio A
Publication Date: 2022-08-07

Variant appearance in text: BRAF: V600Q
PubMed Link: 36010260
Variant Present in the following documents:
  • diagnostics-12-01910.pdf
View BVdb publication page



Pediatric High Grade Glioma Classification Criteria and Molecular Features of a Case Series.

Genes
Buccoliero, Anna Maria AM; Giunti, Laura L; Moscardi, Selene S; Castiglione, Francesca F; Provenzano, Aldesia A; Sardi, Iacopo I; Scagnet, Mirko M; Genitori, Lorenzo L; Caporalini, Chiara C
Publication Date: 2022-03-31

Variant appearance in text: BRAF: Val600Gln
PubMed Link: 35456430
Variant Present in the following documents:
  • Main text
  • genes-13-00624.pdf
View BVdb publication page



Severe Epistaxis Secondary to Dabrafenib and Trametinib Toxicity in Non-small Cell Lung Carcinoma With Small Bowel Metastasis.

Cureus
Gullapalli, Keerthi K; Mosalem, Osama O; Varghese, Merryl T MT; Watat, Kevin K; Hrinczenko, Borys B
Publication Date: 2021-07

Variant appearance in text: BRAF: V600Q
PubMed Link: 34466299
Variant Present in the following documents:
  • cureus-0013-00000016431.pdf
View BVdb publication page



Genetic Profiling of a Cohort of Italian Patients with ACTH-Secreting Pituitary Tumors and Characterization of a Novel USP8 Gene Variant.

Cancers
Treppiedi, Donatella D; Barbieri, Anna Maria AM; Di Muro, Genesio G; Marra, Giusy G; Mangili, Federica F; Catalano, Rosa R; Esposito, Emanuela E; Ferrante, Emanuele E; Serban, Andreea Liliana AL; Locatelli, Marco M; Lania, Andrea Gerardo AG; Spada, Anna A; Arosio, Maura M; Peverelli, Erika E; Mantovani, Giovanna G
Publication Date: 2021-08-10

Variant appearance in text: BRAF: Val600Gln
PubMed Link: 34439178
Variant Present in the following documents:
  • Main text
  • cancers-13-04022.pdf
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: BRAF: V600Q
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population.

Biomed Research International
Gutiérrez-Castañeda, Luz D LD; Gamboa, Mauricio M; Nova, John A JA; Pulido, Leonardo L; Tovar-Parra, Jose D JD
Publication Date: 2020

Variant appearance in text: BRAF: Val600Gln
PubMed Link: 32775409
Variant Present in the following documents:
  • Main text
  • BMRI2020-2046947.pdf
View BVdb publication page



Paraneoplastic leukemoid reactions induced by cytokine-secreting tumours.

Journal Of Clinical Pathology
Abukhiran, Ibrahim A IA; Jasser, Judy J; Syrbu, Sergei S
Publication Date: 2020-06

Variant appearance in text: BRAF: V600Q
PubMed Link: 31941653
Variant Present in the following documents:
  • jclinpath-2019-206340.pdf
View BVdb publication page



The New Genetic Landscape of Cushing's Disease: Deubiquitinases in the Spotlight.

Cancers
Sbiera, Silviu S; Kunz, Meik M; Weigand, Isabel I; Deutschbein, Timo T; Dandekar, Thomas T; Fassnacht, Martin M
Publication Date: 2019-11-08

Variant appearance in text: BRAF: Val600Gln
PubMed Link: 31717455
Variant Present in the following documents:
  • Main text
  • cancers-11-01761.pdf
View BVdb publication page



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: BRAF: V600Q
PubMed Link: 30857943
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Molecular testing for BRAF mutations to inform melanoma treatment decisions: a move toward precision medicine.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Cheng, Liang L; Lopez-Beltran, Antonio A; Massari, Francesco F; MacLennan, Gregory T GT; Montironi, Rodolfo R
Publication Date: 2018-01

Variant appearance in text: BRAF: V600Q
PubMed Link: 29148538
Variant Present in the following documents:
  • Main text
  • modpathol2017104a.pdf
View BVdb publication page



Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

Acta Neuropathologica Communications
Salloum, Ralph R; McConechy, Melissa K MK; Mikael, Leonie G LG; Fuller, Christine C; Drissi, Rachid R; DeWire, Mariko M; Nikbakht, Hamid H; De Jay, Nicolas N; Yang, Xiaodan X; Boue, Daniel D; Chow, Lionel M L LML; Finlay, Jonathan L JL; Gayden, Tenzin T; Karamchandani, Jason J; Hummel, Trent R TR; Olshefski, Randal R; Osorio, Diana S DS; Stevenson, Charles C; Kleinman, Claudia L CL; Majewski, Jacek J; Fouladi, Maryam M; Jabado, Nada N
Publication Date: 2017-10-30

Variant appearance in text: BRAF: V600Q
PubMed Link: 29084603
Variant Present in the following documents:
  • 40478_2017_479_MOESM2_ESM.xlsx, sheet 12
  • 40478_2017_479_MOESM2_ESM.xlsx, sheet 13
View BVdb publication page



BRAF V600Q-mutated lung adenocarcinoma with duodenal metastasis and extreme leukocytosis.

World Journal Of Clinical Oncology
Qasrawi, Ayman A; Tolentino, Addison A; Abu Ghanimeh, Mouhanna M; Abughanimeh, Omar O; Albadarin, Sakher S
Publication Date: 2017-08-10

Variant appearance in text: BRAF: V600Q
PubMed Link: 28848703
Variant Present in the following documents:
  • Main text
  • WJCO-8-360.pdf
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: V600Q
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Publication Date: 2017-04

Variant appearance in text: BRAF: V600Q
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Diagnostic Immunohistochemistry in Cutaneous Neoplasia: An Update.

Dermatopathology (Basel, Switzerland)
Compton, Leigh A LA; Murphy, George F GF; Lian, Christine G CG
Publication Date: 2015

Variant appearance in text: BRAF: V600Q
PubMed Link: 27047932
Variant Present in the following documents:
  • Main text
  • dpa-0002-0015.pdf
View BVdb publication page



The Clinicopathological Features of BRAF Mutated Papillary Thyroid Cancers in Chinese Patients.

International Journal Of Endocrinology
Yang, Li-Bo LB; Sun, Lin-Yong LY; Jiang, Yong Y; Tang, Ying Y; Li, Zhi-Hui ZH; Zhang, Hong-Ying HY; Bu, Hong H; Ye, Feng F
Publication Date: 2015

Variant appearance in text: BRAF: V600Q
PubMed Link: 26273300
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRAF and RAS mutations as prognostic factors in metastatic colorectal cancer patients undergoing liver resection.

British Journal Of Cancer
Schirripa, M M; Bergamo, F F; Cremolini, C C; Casagrande, M M; Lonardi, S S; Aprile, G G; Yang, D D; Marmorino, F F; Pasquini, G G; Sensi, E E; Lupi, C C; De Maglio, G G; Borrelli, N N; Pizzolitto, S S; Fasola, G G; Bertorelle, R R; Rugge, M M; Fontanini, G G; Zagonel, V V; Loupakis, F F; Falcone, A A
Publication Date: 2015-06-09

Variant appearance in text: BRAF: V600Q
PubMed Link: 25942399
Variant Present in the following documents:
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: BRAF: V600Q
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
View BVdb publication page



Validation of the VE1 immunostain for the BRAF V600E mutation in melanoma.

Journal Of Cutaneous Pathology
Pearlstein, Michelle V MV; Zedek, Daniel C DC; Ollila, David W DW; Treece, Amanda A; Gulley, Margaret L ML; Groben, Pamela A PA; Thomas, Nancy E NE
Publication Date: 2014-09

Variant appearance in text: BRAF: V600Q
PubMed Link: 24917033
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.

Nature Genetics
Brastianos, Priscilla K PK; Taylor-Weiner, Amaro A; Manley, Peter E PE; Jones, Robert T RT; Dias-Santagata, Dora D; Thorner, Aaron R AR; Lawrence, Michael S MS; Rodriguez, Fausto J FJ; Bernardo, Lindsay A LA; Schubert, Laura L; Sunkavalli, Ashwini A; Shillingford, Nick N; Calicchio, Monica L ML; Lidov, Hart G W HG; Taha, Hala H; Martinez-Lage, Maria M; Santi, Mariarita M; Storm, Phillip B PB; Lee, John Y K JY; Palmer, James N JN; Adappa, Nithin D ND; Scott, R Michael RM; Dunn, Ian F IF; Laws, Edward R ER; Stewart, Chip C; Ligon, Keith L KL; Hoang, Mai P MP; Van Hummelen, Paul P; Hahn, William C WC; Louis, David N DN; Resnick, Adam C AC; Kieran, Mark W MW; Getz, Gad G; Santagata, Sandro S
Publication Date: 2014-02

Variant appearance in text: BRAF: V600Q
PubMed Link: 24413733
Variant Present in the following documents:
  • NIHMS547859-supplement-1.xlsx, sheet 3
View BVdb publication page



KRAS, BRAF and PIK3CA mutations and the loss of PTEN expression in Chinese patients with colorectal cancer.

Plos One
Mao, Chen C; Zhou, Junhua J; Yang, Zuyao Z; Huang, Yafang Y; Wu, Xinyin X; Shen, Hong H; Tang, Jinling J; Chen, Qing Q
Publication Date: 2012

Variant appearance in text: BRAF: V600Q
PubMed Link: 22586484
Variant Present in the following documents:
  • Main text
  • pone.0036653.pdf
View BVdb publication page