Publications:

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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: 1385G>T; Arg462Ile

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 1385G>T; R462I

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: BRAF: 1385G>T; R462I

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1385G>T; R462I

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs180177032

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: BRAF: R462I

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: BRAF: R462I

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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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: R462I

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Computational algorithms for in silico profiling of activating mutations in cancer.

Cellular And Molecular Life Sciences : Cmls

Jordan, E Joseph EJ; Patil, Keshav K; Suresh, Krishna K; Park, Jin H JH; Mosse, Yael P YP; Lemmon, Mark A MA; Radhakrishnan, Ravi R

Publication Date: 2019-07

Variant appearance in text: BRAF: R462I

PubMed Link: 30982079

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: BRAF: R462I

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical application of targeted next-generation sequencing for colorectal cancer patients: a multicentric Belgian experience.

Oncotarget

D'Haene, Nicky N; Fontanges, Quitterie Q; De Nève, Nancy N; Blanchard, Oriane O; Melendez, Barbara B; Delos, Monique M; Dehou, Marie-Françoise MF; Maris, Calliope C; Nagy, Nathalie N; Rousseau, Emmanuel E; Vandenhove, Josse J; Gilles, André A; De Prez, Carine C; Verset, Laurine L; Van Craynest, Marie-Paule MP; Demetter, Pieter P; Van Laethem, Jean-Luc JL; Salmon, Isabelle I; Le Mercier, Marie M

Publication Date: 2018-04-17

Variant appearance in text: BRAF: R462I

PubMed Link: 29755687

Variant Present in the following documents:

• Main text
• oncotarget-09-20761.pdf

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>T; R462I

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s022.xlsx, sheet 1

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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: rs180177032

PubMed Link: 28595259

Variant Present in the following documents:

• bjc2017168x11.xlsx, sheet 1

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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: 1385G>T; rs180177032

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: BRAF: R462I

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1
• srep31321-s5.xls, sheet 1

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Bioinformatics Approach for Prediction of Functional Coding/Noncoding Simple Polymorphisms (SNPs/Indels) in Human BRAF Gene.

Advances In Bioinformatics

Hassan, Mohamed M MM; Omer, Shaza E SE; Khalf-Allah, Rahma M RM; Mustafa, Razaz Y RY; Ali, Isra S IS; Mohamed, Sofia B SB

Publication Date: 2016

Variant appearance in text: rs180177032

PubMed Link: 27478437

Variant Present in the following documents:

• Main text
• ABI2016-2632917.pdf

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Clinical detection and categorization of uncommon and concomitant mutations involving BRAF.

Bmc Cancer

Zheng, Gang G; Tseng, Li-Hui LH; Chen, Guoli G; Haley, Lisa L; Illei, Peter P; Gocke, Christopher D CD; Eshleman, James R JR; Lin, Ming-Tseh MT

Publication Date: 2015-10-24

Variant appearance in text: BRAF: R462I

PubMed Link: 26498038

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BRAF: R462I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: BRAF: R462I

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: BRAF: R462I

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2
• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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Deciphering the Key Features of Malignant Tumor Microenvironment for Anti-cancer Therapy.

Cancer Microenvironment : Official Journal Of The International Cancer Microenvironment Society

Shang, Bingxue B; Zhang, Gaochuan G; Pan, Yanyan Y; Zhou, Quansheng Q

Publication Date: 2012-12

Variant appearance in text: BRAF: Arg462Ile

PubMed Link: 22592483

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology

Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF

Publication Date: 2012-02

Variant appearance in text: BRAF: R462I

PubMed Link: 21748247

Variant Present in the following documents:

• 10434_2011_1892_MOESM2_ESM.pdf

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: BRAF: R462I

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: BRAF: R462I

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 3
• gkn1008_nar-01723-s-2008-File011.xls, sheet 3

View BVdb publication page

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Mouse models for BRAF-induced cancers.

Biochemical Society Transactions

Pritchard, C C; Carragher, L L; Aldridge, V V; Giblett, S S; Jin, H H; Foster, C C; Andreadi, C C; Kamata, T T

Publication Date: 2007-11

Variant appearance in text: BRAF: R462I

PubMed Link: 17956344

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development and applications of a BRAF oligonucleotide microarray.

The Journal Of Molecular Diagnostics : Jmd

Kim, Il-Jin IJ; Kang, Hio Chung HC; Jang, Sang Geun SG; Ahn, Sun-A SA; Yoon, Hyun-Ju HJ; Park, Jae-Gahb JG

Publication Date: 2007-02

Variant appearance in text: BRAF: R462I

PubMed Link: 17251336

Variant Present in the following documents:

• Main text

View BVdb publication page

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