BRAF c.1457_1471del ;(p.N486_P490del)

Variant ID: 7-140477836-GTAGGTGCTGTCACAT-G

NM_004333.4(BRAF):c.1457_1471del;(p.N486_P490del)

This variant was identified in 37 publications

View GRCh38 version.




Publications:


Vulvar Langerhans cell histiocytosis: Clinicopathologic characteristics, mutational profile, and treatment of 4 patients in a single-center cohort.

Jaad Case Reports
Renier, Ruben R; De Haes, Petra P; Bosisio, Francesca F; Bempt, Isabelle Vanden IV; Woei-A-Jin, F J Sherida H FJSH
Publication Date: 2023-06

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 37250013
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The role of molecular testing in pancreatic cancer.

Therapeutic Advances In Gastroenterology
Zhen, David B DB; Safyan, Rachael A RA; Konick, Eric Q EQ; Nguyen, Ryan R; Prichard, Colin C CC; Chiorean, E Gabriela EG
Publication Date: 2023

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 37197396
Variant Present in the following documents:
  • Main text
  • 10.1177_17562848231171456.pdf
View BVdb publication page



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: N486_P490del
PubMed Link: 36906579
Variant Present in the following documents:
  • 41467_2023_36922_MOESM4_ESM.xls, sheet 2
View BVdb publication page



Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: BRAF: 1457_1471del; Asn486_Pro490del
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
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: 1457_1471del; Asn486_Pro490del
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA; N486_P490del
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
  • Table_2.xlsx, sheet 2
View BVdb publication page



Genomic landscape of the immunogenicity regulation in skin melanomas with diverse tumor mutation burden.

Frontiers In Immunology
Georgoulias, George G; Zaravinos, Apostolos A
Publication Date: 2022

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 36389735
Variant Present in the following documents:
  • Table_7.xlsx, sheet 8
View BVdb publication page



Clinical associations and genetic interactions of oncogenic BRAF alleles.

Peerj
Wagner, Sebastian A SA
Publication Date: 2022

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 36275468
Variant Present in the following documents:
  • peerj-10-14126.pdf
View BVdb publication page



Novel preclinical gastroenteropancreatic neuroendocrine neoplasia models demonstrate the feasibility of mutation-based targeted therapy.

Cellular Oncology (Dordrecht)
Viol, Fabrice F; Sipos, Bence B; Fahl, Martina M; Clauditz, Till S TS; Amin, Tania T; Kriegs, Malte M; Nieser, Maike M; Izbicki, Jakob R JR; Huber, Samuel S; Lohse, Ansgar W AW; Schrader, Jörg J
Publication Date: 2022-10-21

Variant appearance in text: BRAF: 1457_1471del
PubMed Link: 36269546
Variant Present in the following documents:
  • Main text
  • 13402_2022_Article_727.pdf
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: 1457_1471del; N486_P490del
PubMed Link: 36083130
Variant Present in the following documents:
  • Main text
  • main.pdf
  • BLOODA_ADV-2022-007947-mmc1.pdf
View BVdb publication page



Cellular distribution of mutations and association with disease risk in Langerhans cell histiocytosis without BRAFV600E.

Blood Advances
Milne, Paul P; Abhyankar, Harshal H; Scull, Brooks B; Singh, Preeti P; Chakraborty, Rikhia R; Allen, Carl E CE; Collin, Matthew M
Publication Date: 2022-08-23

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 35816634
Variant Present in the following documents:
  • Main text
  • advancesADV2022007519.pdf
  • advancesADV2022007519-suppl1.pdf
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: 1457_1471delATGTGACAGCACCTA; Asn486_Pro490del
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA; N486_P490del
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



BRAF V600E-positive cells as molecular markers of bone marrow disease in pediatric Langerhans cell histiocytosis.

Haematologica
Kudo, Ko K; Toki, Tsutomu T; Kanezaki, Rika R; Tanaka, Tatsuhiko T; Kamio, Takuya T; Sato, Tomohiko T; Sasaki, Shinya S; Imamura, Masaru M; Imai, Chihaya C; Ando, Kumiko K; Kakuda, Harumi H; Doi, Takehiko T; Kawaguchi, Hiroshi H; Irie, Masahiro M; Sasahara, Yoji Y; Tamura, Akihiro A; Hasegawa, Daiichiro D; Itakura, Yosuke Y; Watanabe, Kenichiro K; Sakamoto, Kenichi K; Shioda, Yoko Y; Kato, Motohiro M; Kudo, Kazuko K; Fukano, Reiji R; Sato, Atsushi A; Yagasaki, Hiroshi H; Kanegane, Hirokazu H; Kato, Itaru I; Umeda, Katsutsugu K; Adachi, Souichi S; Kataoka, Tatsuki T; Kurose, Akira A; Nakazawa, Atsuko A; Terui, Kiminori K; Ito, Etsuro E
Publication Date: 2022-07-01

Variant appearance in text: BRAF: 1457_1471del; Asn486_Pro490del
PubMed Link: 35295077
Variant Present in the following documents:
  • 2021_279857_KUDO_SUPPL.pdf
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: 1457_1471delATGTGACAGCACCTA; Asn486_Pro490del
PubMed Link: 35244186
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 1
  • Supplementary_Data3.xlsx, sheet 1
View BVdb publication page



Adult Langerhans Cell Histiocytosis and the Skeleton.

Journal Of Clinical Medicine
Georgakopoulou, Danae D; Anastasilakis, Athanasios D AD; Makras, Polyzois P
Publication Date: 2022-02-09

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 35207181
Variant Present in the following documents:
  • jcm-11-00909.pdf
View BVdb publication page



Mutational profiling of melanomas in patients from the southeast coast of China.

Translational Cancer Research
Zheng, Ai-Wen AW; Jia, Dong-Dong DD; Zhou, Cheng-Cheng CC; Li, Tao T
Publication Date: 2020-08

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 35117841
Variant Present in the following documents:
  • Main text
  • tcr-09-08-4781.pdf
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: BRAF: 1457_1471del; Asn486_Pro490del
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



Patient-derived tumor xenograft and organoid models established from resected pancreatic, duodenal and biliary cancers.

Scientific Reports
Pham, Nhu-An NA; Radulovich, Nikolina N; Ibrahimov, Emin E; Martins-Filho, Sebastiao N SN; Li, Quan Q; Pintilie, Melania M; Weiss, Jessica J; Raghavan, Vibha V; Cabanero, Michael M; Denroche, Robert E RE; Wilson, Julie M JM; Metran-Nascente, Cristiane C; Borgida, Ayelet A; Hutchinson, Shawn S; Dodd, Anna A; Begora, Michael M; Chadwick, Dianne D; Serra, Stefano S; Knox, Jennifer J JJ; Gallinger, Steven S; Hedley, David W DW; Muthuswamy, Lakshmi L; Tsao, Ming-Sound MS
Publication Date: 2021-05-19

Variant appearance in text: BRAF: 1457_1471del
PubMed Link: 34011980
Variant Present in the following documents:
  • 41598_2021_90049_MOESM1_ESM.pdf
View BVdb publication page



Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Zhang, Jinghua J; Dai, Daofeng D; Tian, Junqiang J; Li, Lifeng L; Bai, Jing J; Xu, Yaping Y; Wang, Zhiping Z; Tang, Aifa A
Publication Date: 2021

Variant appearance in text: BRAF: 1457_1471del; N486_P490del
PubMed Link: 33996580
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA; N486_P490del
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Oncogenic mutations within the β3-αC loop of EGFR/ERBB2/BRAF/MAP2K1 predict response to therapies.

Molecular Genetics & Genomic Medicine
Zhang, Biao B; Chen, Yongsheng Y; Dai, Pingping P; Yu, Haoda H; Ma, Jianhui J; Chen, Chen C; Zhang, Yan Y; Guan, Yanfang Y; Chen, Rongrong R; Liu, Tao T; Wang, Jiayin J; Yang, Ling L; Yi, Xin X; Xia, Xuefeng X; Ma, Haitao H
Publication Date: 2020-10

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 32757330
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1395.pdf
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: BRAF: 1457_1471del
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
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: 1457_1471del; N486_P490del
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: Asn486_Pro490del
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Identification of targetable BRAF ΔN486_P490 variant by whole-genome sequencing leading to dabrafenib-induced remission of a BRAF-mutant pancreatic adenocarcinoma.

Cold Spring Harbor Molecular Case Studies
Wrzeszczynski, Kazimierz O KO; Rahman, Sadia S; Frank, Mayu O MO; Arora, Kanika K; Shah, Minita M; Geiger, Heather H; Felice, Vanessa V; Manaa, Dina D; Dikoglu, Esra E; Khaira, Depinder D; Chimpiri, A Rao AR; Michelini, Vanessa V VV; Jobanputra, Vaidehi V; Darnell, Robert B RB; Powers, Scott S; Choi, Minsig M
Publication Date: 2019-12

Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA; Asn486_Pro490del
PubMed Link: 31519698
Variant Present in the following documents:
  • Main text
  • MCS004424Wrz.pdf
View BVdb publication page



Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen.

Nature Communications
Menden, Michael P MP; Wang, Dennis D; Mason, Mike J MJ; Szalai, Bence B; Bulusu, Krishna C KC; Guan, Yuanfang Y; Yu, Thomas T; Kang, Jaewoo J; Jeon, Minji M; Wolfinger, Russ R; Nguyen, Tin T; Zaslavskiy, Mikhail M; , ; Jang, In Sock IS; Ghazoui, Zara Z; Ahsen, Mehmet Eren ME; Vogel, Robert R; Neto, Elias Chaibub EC; Norman, Thea T; Tang, Eric K Y EKY; Garnett, Mathew J MJ; Veroli, Giovanni Y Di GYD; Fawell, Stephen S; Stolovitzky, Gustavo G; Guinney, Justin J; Dry, Jonathan R JR; Saez-Rodriguez, Julio J
Publication Date: 2019-06-17

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 31209238
Variant Present in the following documents:
  • 41467_2019_9799_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations.

Gastroenterology
Fischer, Catherine G CG; Beleva Guthrie, Violeta V; Braxton, Alicia M AM; Zheng, Lily L; Wang, Pei P; Song, Qianqian Q; Griffin, James F JF; Chianchiano, Peter E PE; Hosoda, Waki W; Niknafs, Noushin N; Springer, Simeon S; Dal Molin, Marco M; Masica, David D; Scharpf, Robert B RB; Thompson, Elizabeth D ED; He, Jin J; Wolfgang, Christopher L CL; Hruban, Ralph H RH; Roberts, Nicholas J NJ; Lennon, Anne Marie AM; Jiao, Yuchen Y; Karchin, Rachel R; Wood, Laura D LD
Publication Date: 2019-10

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 31175866
Variant Present in the following documents:
  • Main text
View BVdb publication page



Real-time Genomic Characterization of Advanced Pancreatic Cancer to Enable Precision Medicine.

Cancer Discovery
Aguirre, Andrew J AJ; Nowak, Jonathan A JA; Camarda, Nicholas D ND; Moffitt, Richard A RA; Ghazani, Arezou A AA; Hazar-Rethinam, Mehlika M; Raghavan, Srivatsan S; Kim, Jaegil J; Brais, Lauren K LK; Ragon, Dorisanne D; Welch, Marisa W MW; Reilly, Emma E; McCabe, Devin D; Marini, Lori L; Anderka, Kristin K; Helvie, Karla K; Oliver, Nelly N; Babic, Ana A; Da Silva, Annacarolina A; Nadres, Brandon B; Van Seventer, Emily E EE; Shahzade, Heather A HA; St Pierre, Joseph P JP; Burke, Kelly P KP; Clancy, Thomas T; Cleary, James M JM; Doyle, Leona A LA; Jajoo, Kunal K; McCleary, Nadine J NJ; Meyerhardt, Jeffrey A JA; Murphy, Janet E JE; Ng, Kimmie K; Patel, Anuj K AK; Perez, Kimberly K; Rosenthal, Michael H MH; Rubinson, Douglas A DA; Ryou, Marvin M; Shapiro, Geoffrey I GI; Sicinska, Ewa E; Silverman, Stuart G SG; Nagy, Rebecca J RJ; Lanman, Richard B RB; Knoerzer, Deborah D; Welsch, Dean J DJ; Yurgelun, Matthew B MB; Fuchs, Charles S CS; Garraway, Levi A LA; Getz, Gad G; Hornick, Jason L JL; Johnson, Bruce E BE; Kulke, Matthew H MH; Mayer, Robert J RJ; Miller, Jeffrey W JW; Shyn, Paul B PB; Tuveson, David A DA; Wagle, Nikhil N; Yeh, Jen Jen JJ; Hahn, William C WC; Corcoran, Ryan B RB; Carter, Scott L SL; Wolpin, Brian M BM
Publication Date: 2018-09

Variant appearance in text: BRAF: N486_P490del
PubMed Link: 29903880
Variant Present in the following documents:
  • Main text
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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Leukemia
Nadeu, F F; Clot, G G; Delgado, J J; Martín-García, D D; Baumann, T T; Salaverria, I I; Beà, S S; Pinyol, M M; Jares, P P; Navarro, A A; Suárez-Cisneros, H H; Aymerich, M M; Rozman, M M; Villamor, N N; Colomer, D D; González, M M; Alcoceba, M M; Terol, M J MJ; Navarro, B B; Colado, E E; Payer, Á R ÁR; Puente, X S XS; López-Otín, C C; López-Guillermo, A A; Enjuanes, A A; Campo, E E
Publication Date: 2018-03

Variant appearance in text: BRAF: 1457_1471delATGTGACAGCACCTA
PubMed Link: 28924241
Variant Present in the following documents:
  • leu2017291x4.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: N486_P490del
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
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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: 1457_1471del; N486_P490del
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page