BRAF c.1798_1799insACTTTGGTCTTGCAACAG ;(p.D594_T599dup)

Variant ID: 7-140453136-A-ACTGTTGCAAGACCAAAGT

NM_004333.4(BRAF):c.1798_1799insACTTTGGTCTTGCAACAG;(p.D594_T599dup)

This variant was identified in 12 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; TirrĂ², 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: T599_V600insDFGLAT
PubMed Link: 36906579
Variant Present in the following documents:
  • 41467_2023_36922_MOESM4_ESM.xls, sheet 2
View BVdb publication page



A Narrative Review of Genetic Alterations in Primary Thyroid Epithelial Cancer.

International Journal Of Molecular Sciences
Romei, Cristina C; Elisei, Rossella R
Publication Date: 2021-02-09

Variant appearance in text: BRAF: T599_V600insDFGLAT
PubMed Link: 33572167
Variant Present in the following documents:
  • Main text
  • ijms-22-01726.pdf
View BVdb publication page



Lack of Response to Vemurafenib in Melanoma Carrying BRAF K601E Mutation.

Case Reports In Oncology
Moiseyenko, Fedor V FV; Egorenkov, Vitaliy V VV; Kramchaninov, Mikhail M MM; Artemieva, Elizaveta V EV; Aleksakhina, Svetlana N SN; Holmatov, Maxim M MM; Moiseyenko, Vladimir M VM; Imyanitov, Evgeny N EN
Publication Date: 2019

Variant appearance in text: BRAF: T599_V600insDFGLAT
PubMed Link: 31182949
Variant Present in the following documents:
  • Main text
  • cro-0012-0339.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: T599_V600insDFGLAT
PubMed Link: 30857943
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: T599_V600insDFGLAT
PubMed Link: 29084603
Variant Present in the following documents:
  • 40478_2017_479_MOESM2_ESM.xlsx, sheet 13
  • 40478_2017_479_MOESM2_ESM.xlsx, sheet 12
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: T599_V600insDFGLAT
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: T599_V600insDFGLAT
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: BRAF: T599_V600insDFGLAT
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
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: T599_V600insDFGLAT
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.

Nature Medicine
Van Allen, Eliezer M EM; Wagle, Nikhil N; Stojanov, Petar P; Perrin, Danielle L DL; Cibulskis, Kristian K; Marlow, Sara S; Jane-Valbuena, Judit J; Friedrich, Dennis C DC; Kryukov, Gregory G; Carter, Scott L SL; McKenna, Aaron A; Sivachenko, Andrey A; Rosenberg, Mara M; Kiezun, Adam A; Voet, Douglas D; Lawrence, Michael M; Lichtenstein, Lee T LT; Gentry, Jeff G JG; Huang, Franklin W FW; Fostel, Jennifer J; Farlow, Deborah D; Barbie, David D; Gandhi, Leena L; Lander, Eric S ES; Gray, Stacy W SW; Joffe, Steven S; Janne, Pasi P; Garber, Judy J; MacConaill, Laura L; Lindeman, Neal N; Rollins, Barrett B; Kantoff, Philip P; Fisher, Sheila A SA; Gabriel, Stacey S; Getz, Gad G; Garraway, Levi A LA
Publication Date: 2014-06

Variant appearance in text: BRAF: T599_V600insDFGLAT
PubMed Link: 24836576
Variant Present in the following documents:
  • NIHMS531666-supplement-10.xlsx, sheet 1
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: T599_V600insDFGLAT
PubMed Link: 24413733
Variant Present in the following documents:
  • NIHMS547859-supplement-1.xlsx, sheet 3
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: T599_V600insDFGLAT
PubMed Link: 23555633
Variant Present in the following documents:
  • pone.0059221.s002.pdf
View BVdb publication page