Publications:

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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: R462K

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine

Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC

Publication Date: 2022-06-16

Variant appearance in text: BRAF: R462K

PubMed Link: 35706047

Variant Present in the following documents:

• 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: R462K

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 12
• PCMR-35-369-s003.xlsx, sheet 6

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Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.

Neuro-Oncology Advances

Blomquist, Mylan R MR; Ensign, Shannon Fortin SF; D'Angelo, Fulvio F; Phillips, Joanna J JJ; Ceccarelli, Michele M; Peng, Sen S; Halperin, Rebecca F RF; Caruso, Francesca P FP; Garofano, Luciano L; Byron, Sara A SA; Liang, Winnie S WS; Craig, David W DW; Carpten, John D JD; Prados, Michael D MD; Trent, Jeffrey M JM; Berens, Michael E ME; Iavarone, Antonio A; Dhruv, Harshil H; Tran, Nhan L NL

Publication Date: 2020

Variant appearance in text: BRAF: R462K

PubMed Link: 32743548

Variant Present in the following documents:

• vdaa078.pdf
• vdaa078_suppl_supplementary_table_7.xlsx, sheet 1
• vdaa078_suppl_supplementary_table_9.xlsx, sheet 1
• vdaa078_suppl_supplementary_table_4.xlsx, sheet 4

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Comprehensive Immune Profiling of Medullary Thyroid Cancer.

Thyroid : Official Journal Of The American Thyroid Association

Pozdeyev, Nikita N; Erickson, Timothy A TA; Zhang, Lian L; Ellison, Kim K; Rivard, Christopher J CJ; Sams, Sharon S; Hirsch, Fred R FR; Haugen, Bryan R BR; French, Jena D JD

Publication Date: 2020-09

Variant appearance in text: BRAF: R462K

PubMed Link: 32242507

Variant Present in the following documents:

• Main text

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Decoding cancer heterogeneity: studying patient-specific signaling signatures towards personalized cancer therapy.

Theranostics

Flashner-Abramson, Efrat E; Vasudevan, Swetha S; Adejumobi, Ibukun Adesoji IA; Sonnenblick, Amir A; Kravchenko-Balasha, Nataly N

Publication Date: 2019

Variant appearance in text: BRAF: R462K

PubMed Link: 31410207

Variant Present in the following documents:

• thnov09p5149s4.xlsx, sheet 3

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: BRAF: R462K

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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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: R462K

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

View BVdb publication page

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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: Arg462Lys

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.xlsx, sheet 1

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: BRAF: 1385G>A; R462K

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

View BVdb publication page

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Molecular profiling of signet ring cell colorectal cancer provides a strong rationale for genomic targeted and immune checkpoint inhibitor therapies.

British Journal Of Cancer

Alvi, Muhammad A MA; Loughrey, Maurice B MB; Dunne, Philip P; McQuaid, Stephen S; Turkington, Richard R; Fuchs, Marc-Aurel MA; McGready, Claire C; Bingham, Victoria V; Pang, Brendan B; Moore, Wendy W; Maxwell, Perry P; Lawler, Mark M; James, Jacqueline A JA; Murray, Graeme I GI; Wilson, Richard H RH; Salto-Tellez, Manuel M

Publication Date: 2017-07-11

Variant appearance in text: BRAF: 1385G>A; Arg462Lys

PubMed Link: 28595259

Variant Present in the following documents:

• bjc2017168x11.xlsx, sheet 1

View BVdb publication page

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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: R462K

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma.

Genome Research

Liang, Winnie S WS; Hendricks, William W; Kiefer, Jeffrey J; Schmidt, Jessica J; Sekar, Shobana S; Carpten, John J; Craig, David W DW; Adkins, Jonathan J; Cuyugan, Lori L; Manojlovic, Zarko Z; Halperin, Rebecca F RF; Helland, Adrienne A; Nasser, Sara S; Legendre, Christophe C; Hurley, Laurence H LH; Sivaprakasam, Karthigayini K; Johnson, Douglas B DB; Crandall, Holly H; Busam, Klaus J KJ; Zismann, Victoria V; Deluca, Valerie V; Lee, Jeeyun J; Sekulic, Aleksandar A; Ariyan, Charlotte E CE; Sosman, Jeffrey J; Trent, Jeffrey J

Publication Date: 2017-04

Variant appearance in text: BRAF: R462K

PubMed Link: 28373299

Variant Present in the following documents:

• Main text
• 524.pdf

View BVdb publication page

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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: 1385G>A; R462K

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Protein-structure-guided discovery of functional mutations across 19 cancer types.

Nature Genetics

Niu, Beifang B; Scott, Adam D AD; Sengupta, Sohini S; Bailey, Matthew H MH; Batra, Prag P; Ning, Jie J; Wyczalkowski, Matthew A MA; Liang, Wen-Wei WW; Zhang, Qunyuan Q; McLellan, Michael D MD; Sun, Sam Q SQ; Tripathi, Piyush P; Lou, Carolyn C; Ye, Kai K; Mashl, R Jay RJ; Wallis, John J; Wendl, Michael C MC; Chen, Feng F; Ding, Li L

Publication Date: 2016-08

Variant appearance in text: BRAF: Arg462Lys

PubMed Link: 27294619

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: BRAF: R462K

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: BRAF: R462K

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Melanoma genome sequencing reveals frequent PREX2 mutations.

Nature

Berger, Michael F MF; Hodis, Eran E; Heffernan, Timothy P TP; Deribe, Yonathan Lissanu YL; Lawrence, Michael S MS; Protopopov, Alexei A; Ivanova, Elena E; Watson, Ian R IR; Nickerson, Elizabeth E; Ghosh, Papia P; Zhang, Hailei H; Zeid, Rhamy R; Ren, Xiaojia X; Cibulskis, Kristian K; Sivachenko, Andrey Y AY; Wagle, Nikhil N; Sucker, Antje A; Sougnez, Carrie C; Onofrio, Robert R; Ambrogio, Lauren L; Auclair, Daniel D; Fennell, Timothy T; Carter, Scott L SL; Drier, Yotam Y; Stojanov, Petar P; Singer, Meredith A MA; Voet, Douglas D; Jing, Rui R; Saksena, Gordon G; Barretina, Jordi J; Ramos, Alex H AH; Pugh, Trevor J TJ; Stransky, Nicolas N; Parkin, Melissa M; Winckler, Wendy W; Mahan, Scott S; Ardlie, Kristin K; Baldwin, Jennifer J; Wargo, Jennifer J; Schadendorf, Dirk D; Meyerson, Matthew M; Gabriel, Stacey B SB; Golub, Todd R TR; Wagner, Stephan N SN; Lander, Eric S ES; Getz, Gad G; Chin, Lynda L; Garraway, Levi A LA

Publication Date: 2012-05-09

Variant appearance in text: BRAF: R462K

PubMed Link: 22622578

Variant Present in the following documents:

• NIHMS362881-supplement-3.xlsx, sheet 5

View BVdb publication page

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