Publications:

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Pathogenic genomic alterations in Chinese pancreatic cancer patients and their therapeutical implications.

Cancer Medicine

Zhao, Zhiming Z; Li, Xiaomo X; Wang, Fei F; Xu, Yong Y; Liu, Si S; Han, Quanli Q; Yang, Zhiying Z; Huang, Weiwei W; Yin, Zhuzeng Z; Liu, Qu Q; Tan, Haidong H; Ma, Tonghui T; Si, Shuang S; Huang, Jia J; Yuan, Hongling H; Li, Wei W; Liu, Rong R

Publication Date: 2023-03-31

Variant appearance in text: BRAF: L485F

PubMed Link: 36999792

Variant Present in the following documents:

• Main text
• CAM4-12-11672.pdf

View BVdb publication page

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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: 1455G>T; Leu485Phe

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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Tumor-Type Agnostic, Targeted Therapies: BRAF Inhibitors Join the Group.

Acta Medica Academica

Vranic, Semir S; Basu, Gargi D GD; Hall, David W DW; Gatalica, Zoran Z

Publication Date: 2022-12-30

Variant appearance in text: BRAF: L485F

PubMed Link: 36799315

Variant Present in the following documents:

• AMA-51-217.pdf

View BVdb publication page

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Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Kenney-Jung, Daniel L DL; Rogers, Dante J DJ; Kroening, Samuel J SJ; Zatkalik, Abigail L AL; Whitmarsh, Ashley E AE; Roberts, Amy E AE; Zenker, Martin M; Gambardella, Maria Luigia ML; Contaldo, Ilaria I; Leoni, Chiara C; Onesimo, Roberta R; Zampino, Giuseppe G; Tartaglia, Marco M; Battaglia, Domenica I DI; Pierpont, Elizabeth I EI

Publication Date: 2022-11-29

Variant appearance in text: BRAF: L485F

PubMed Link: 36448195

Variant Present in the following documents:

• AJMG-190-501.pdf

View BVdb publication page

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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: L485F

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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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: L485F

PubMed Link: 36389735

Variant Present in the following documents:

• Table_7.xlsx, sheet 8

View BVdb publication page

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Clinical associations and genetic interactions of oncogenic BRAF alleles.

Peerj

Wagner, Sebastian A SA

Publication Date: 2022

Variant appearance in text: BRAF: L485F

PubMed Link: 36275468

Variant Present in the following documents:

• peerj-10-14126.pdf

View BVdb publication page

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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: L485F

PubMed Link: 35768438

Variant Present in the following documents:

• Main text
• 41467_2022_Article_31430.pdf

View BVdb publication page

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Drug resistance in targeted cancer therapies with RAF inhibitors.

Cancer Drug Resistance (Alhambra, Calif.)

Degirmenci, Ufuk U; Yap, Jiajun J; Sim, Yuen Rong M YRM; Qin, Shiru S; Hu, Jiancheng J

Publication Date: 2021

Variant appearance in text: BRAF: L485F

PubMed Link: 35582307

Variant Present in the following documents:

• cdr-4-665.pdf

View BVdb publication page

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KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers

Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A

Publication Date: 2022-01-28

Variant appearance in text: BRAF: L485F

PubMed Link: 35158933

Variant Present in the following documents:

• Main text
• cancers-14-00666.pdf

View BVdb publication page

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KRAS and RAS-MAPK Pathway Deregulation in Mature B Cell Lymphoproliferative Disorders.

Cancers

Vendramini, Elena E; Bomben, Riccardo R; Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Gattei, Valter V; Zucchetto, Antonella A

Publication Date: 2022-01-28

Variant appearance in text: BRAF: L485F

PubMed Link: 35158933

Variant Present in the following documents:

• Main text
• cancers-14-00666.pdf

View BVdb publication page

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Resistance to anti-EGFR therapies in metastatic colorectal cancer: underlying mechanisms and reversal strategies.

Journal Of Experimental & Clinical Cancer Research : Cr

Zhou, Jing J; Ji, Qing Q; Li, Qi Q

Publication Date: 2021-10-18

Variant appearance in text: BRAF: L485F

PubMed Link: 34663410

Variant Present in the following documents:

• Main text
• 13046_2021_Article_2130.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: BRAF: L485F

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Genes

Battaglia, Domenica I DI; Gambardella, Maria Luigia ML; Veltri, Stefania S; Contaldo, Ilaria I; Chillemi, Giovanni G; Veredice, Chiara C; Quintiliani, Michela M; Leoni, Chiara C; Onesimo, Roberta R; Verdolotti, Tommaso T; Radio, Francesca Clementina FC; Martinelli, Diego D; Trivisano, Marina M; Specchio, Nicola N; Dravet, Charlotte C; Tartaglia, Marco M; Zampino, Giuseppe G

Publication Date: 2021-08-26

Variant appearance in text: BRAF: Leu485Phe

PubMed Link: 34573299

Variant Present in the following documents:

• Main text
• genes-12-01316.pdf

View BVdb publication page

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The stability of R-spine defines RAF inhibitor resistance: A comprehensive analysis of oncogenic BRAF mutants with in-frame insertion of αC-β4 loop.

Science Advances

Yap, Jiajun J; Deepak, R N V Krishna RNVK; Tian, Zizi Z; Ng, Wan Hwa WH; Goh, Kah Chun KC; Foo, Alicia A; Tee, Zi Heng ZH; Mohanam, Manju Payini MP; Sim, Yuen Rong M YRM; Degirmenci, Ufuk U; Lam, Paula P; Chen, Zhongzhou Z; Fan, Hao H; Hu, Jiancheng J

Publication Date: 2021-06

Variant appearance in text: BRAF: L485F

PubMed Link: 34108213

Variant Present in the following documents:

• Main text
• abg0390.pdf

View BVdb publication page

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The stability of R-spine defines RAF inhibitor resistance: A comprehensive analysis of oncogenic BRAF mutants with in-frame insertion of αC-β4 loop.

Science Advances

Yap, Jiajun J; Deepak, R N V Krishna RNVK; Tian, Zizi Z; Ng, Wan Hwa WH; Goh, Kah Chun KC; Foo, Alicia A; Tee, Zi Heng ZH; Mohanam, Manju Payini MP; Sim, Yuen Rong M YRM; Degirmenci, Ufuk U; Lam, Paula P; Chen, Zhongzhou Z; Fan, Hao H; Hu, Jiancheng J

Publication Date: 2021-06

Variant appearance in text: BRAF: L485F

PubMed Link: 34108213

Variant Present in the following documents:

• Main text
• abg0390.pdf

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: rs180177036

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: N/A

PubMed Link: 32958805

Variant Present in the following documents:

View BVdb publication page

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Ultra-Deep Massive Parallel Sequencing of Plasma Cell-Free DNA Enables Large-Scale Profiling of Driver Mutations in Vietnamese Patients With Advanced Non-Small Cell Lung Cancer.

Frontiers In Oncology

Tran, Le Son LS; Nguyen, Quynh-Tho Thi QT; Nguyen, Chu Van CV; Tran, Vu-Uyen VU; Nguyen, Thai-Hoa Thi TT; Le, Ha Thu HT; Nguyen, Mai-Lan Thi MT; Le, Vu Thuong VT; Pham, Lam-Son LS; Vo, Binh Thanh BT; Dang, Anh-Thu Huynh AH; Nguyen, Luan Thanh LT; Nguyen, Thien-Chi Van TV; Pham, Hong-Anh Thi HT; Tran, Thanh-Truong TT; Nguyen, Long Hung LH; Nguyen, Thanh-Thanh Thi TT; Nguyen, Kim-Huong Thi KT; Vu, Yen-Vi YV; Nguyen, Nguyen Huu NH; Bui, Vinh-Quang VQ; Bui, Hai-Ha HH; Do, Thanh-Thuy Thi TT; Lam, Nien Vinh NV; Truong Dinh, Kiet K; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H

Publication Date: 2020

Variant appearance in text: BRAF: L485F

PubMed Link: 32850431

Variant Present in the following documents:

• Table_2.xlsx, sheet 2

View BVdb publication page

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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: L485F

PubMed Link: 32757330

Variant Present in the following documents:

• Main text
• MGG3-8-e1395.pdf

View BVdb publication page

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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: 1455G>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Tumor Location Is Associated With the Prevalence of Braf And Pik3ca Mutations in Patients with Wild-Type Ras Colorectal Cancer: A Prospective Multi-Center Cohort Study in Japan.

Translational Oncology

Taniguchi, Hiroya H; Uehara, Keisuke K; Nakayama, Goro G; Nakayama, Hiroshi H; Aiba, Toshisada T; Hattori, Norifumi N; Kataoka, Masato M; Nakano, Yasuyuki Y; Kawase, Yoshihisa Y; Okochi, Osamu O; Matsuoka, Hiroshi H; Utsunomiya, Setsuo S; Sakamoto, Eiji E; Mori, Yoshinori Y; Umeda, Shinichi S; Shikano, Toshio T; Komori, Koji K; Tajika, Masahiro M; Kadowaki, Shigenori S; Muro, Kei K; Yatabe, Yasushi Y

Publication Date: 2020-07

Variant appearance in text: BRAF: L485F

PubMed Link: 32428838

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spectrum of driver mutations and clinical impact of circulating tumor DNA analysis in non-small cell lung cancer: Analysis of over 8000 cases.

Cancer

Mack, Philip C PC; Banks, Kimberly C KC; Espenschied, Carin R CR; Burich, Rebekah A RA; Zill, Oliver A OA; Lee, Christine E CE; Riess, Jonathan W JW; Mortimer, Stefanie A SA; Talasaz, AmirAli A; Lanman, Richard B RB; Gandara, David R DR

Publication Date: 2020-07-15

Variant appearance in text: BRAF: L485F

PubMed Link: 32365229

Variant Present in the following documents:

• Main text
• CNCR-126-3219.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: BRAF: L485F

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Targeting BRD/BET proteins inhibits adaptive kinome upregulation and enhances the effects of BRAF/MEK inhibitors in melanoma.

British Journal Of Cancer

Tiago, Manoela M; Capparelli, Claudia C; Erkes, Dan A DA; Purwin, Timothy J TJ; Heilman, Shea A SA; Berger, Adam C AC; Davies, Michael A MA; Aplin, Andrew E AE

Publication Date: 2020-03

Variant appearance in text: BRAF: L485F

PubMed Link: 31932756

Variant Present in the following documents:

• 41416_2019_724_MOESM1_ESM.pdf

View BVdb publication page

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Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: BRAF: L485F

PubMed Link: 31747416

Variant Present in the following documents:

• Main text
• pone.0224227.pdf
• pone.0224227.s002.xlsx, sheet 1

View BVdb publication page

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Response to Anti-EGFR Therapy in Patients with BRAF non-V600-Mutant Metastatic Colorectal Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Yaeger, Rona R; Kotani, Daisuke D; Mondaca, Sebastián S; Parikh, Aparna R AR; Bando, Hideaki H; Van Seventer, Emily E EE; Taniguchi, Hiroya H; Zhao, HuiYong H; Thant, Claire N CN; de Stanchina, Elisa E; Rosen, Neal N; Corcoran, Ryan B RB; Yoshino, Takayuki T; Yao, Zhan Z; Ebi, Hiromichi H

Publication Date: 2019-12-01

Variant appearance in text: BRAF: L485F

PubMed Link: 31515458

Variant Present in the following documents:

• Main text

View BVdb publication page

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The association between BRAF mutation class and clinical features in BRAF-mutant Chinese non-small cell lung cancer patients.

Journal Of Translational Medicine

Lin, Quan Q; Zhang, Haoran H; Ding, Huaxin H; Qian, Jun J; Lizaso, Analyn A; Lin, Jing J; Han-Zhang, Han H; Xiang, Jianxing J; Li, Yuping Y; Zhu, Hong H

Publication Date: 2019-08-30

Variant appearance in text: BRAF: 1455G>T; L485F

PubMed Link: 31470866

Variant Present in the following documents:

• Main text
• 12967_2019_Article_2036.pdf

View BVdb publication page

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The dynamic switch mechanism that leads to activation of LRRK2 is embedded in the DFGψ motif in the kinase domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Schmidt, Sven H SH; Knape, Matthias J MJ; Boassa, Daniela D; Mumdey, Natascha N; Kornev, Alexandr P AP; Ellisman, Mark H MH; Taylor, Susan S SS; Herberg, Friedrich W FW

Publication Date: 2019-07-23

Variant appearance in text: BRAF: L485F

PubMed Link: 31292254

Variant Present in the following documents:

• Main text
• pnas.201900289.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: N/A

PubMed Link: 30665703

Variant Present in the following documents:

View BVdb publication page

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Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.

Bmc Neurology

Lin, Chien-Heng CH; Lin, Wei-De WD; Chou, I-Ching IC; Lee, Inn-Chi IC; Fan, Hueng-Chuen HC; Hong, Syuan-Yu SY

Publication Date: 2018-09-20

Variant appearance in text: BRAF: L485F

PubMed Link: 30236064

Variant Present in the following documents:

• Main text
• 12883_2018_Article_1157.pdf

View BVdb publication page

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Reply to `Comment on `Clinical significance of BRAF non-V600E mutations on the therapeutic effects of anti-EGFR monoclonal antibody treatment in patients with pretreated metastatic colorectal cancer: the Biomarker Research for anti-EGFR monoclonal Antibodies by Comprehensive Cancer genomics (BREAC) study''.

British Journal Of Cancer

Shinozaki, Eiji E; Yoshino, Takayuki T; Tsuchihara, Katsuya K

Publication Date: 2018-05

Variant appearance in text: BRAF: L485F

PubMed Link: 29563632

Variant Present in the following documents:

• Main text
• 41416_2018_Article_40.pdf

View BVdb publication page

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Loss of miR-204 expression is a key event in melanoma.

Molecular Cancer

Galasso, Marco M; Morrison, Carl C; Minotti, Linda L; Corrà, Fabio F; Zerbinati, Carlotta C; Agnoletto, Chiara C; Baldassari, Federica F; Fassan, Matteo M; Bartolazzi, Armando A; Vecchione, Andrea A; Nuovo, Gerard J GJ; Di Leva, Gianpiero G; D'Atri, Stefania S; Alvino, Ester E; Previati, Maurizio M; Nickoloff, Brian J BJ; Croce, Carlo M CM; Volinia, Stefano S

Publication Date: 2018-03-09

Variant appearance in text: BRAF: L485F

PubMed Link: 29523154

Variant Present in the following documents:

• 12943_2018_819_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: N/A

PubMed Link: 29263839

Variant Present in the following documents:

View BVdb publication page

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Clinical significance of BRAF non-V600E mutations on the therapeutic effects of anti-EGFR monoclonal antibody treatment in patients with pretreated metastatic colorectal cancer: the Biomarker Research for anti-EGFR monoclonal Antibodies by Comprehensive Cancer genomics (BREAC) study.

British Journal Of Cancer

Shinozaki, Eiji E; Yoshino, Takayuki T; Yamazaki, Kentaro K; Muro, Kei K; Yamaguchi, Kensei K; Nishina, Tomohiro T; Yuki, Satoshi S; Shitara, Kohei K; Bando, Hideaki H; Mimaki, Sachiyo S; Nakai, Chikako C; Matsushima, Koutatsu K; Suzuki, Yutaka Y; Akagi, Kiwamu K; Yamanaka, Takeharu T; Nomura, Shogo S; Fujii, Satoshi S; Esumi, Hiroyasu H; Sugiyama, Masaya M; Nishida, Nao N; Mizokami, Masashi M; Koh, Yasuhiro Y; Abe, Yukiko Y; Ohtsu, Atsushi A; Tsuchihara, Katsuya K

Publication Date: 2017-11-07

Variant appearance in text: BRAF: L485F

PubMed Link: 28972961

Variant Present in the following documents:

• bjc2017308a.pdf

View BVdb publication page

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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: L485F

PubMed Link: 28924241

Variant Present in the following documents:

• leu2017291x4.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: 1455G>T; rs180177036

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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A dynamic hydrophobic core orchestrates allostery in protein kinases.

Science Advances

Kim, Jonggul J; Ahuja, Lalima G LG; Chao, Fa-An FA; Xia, Youlin Y; McClendon, Christopher L CL; Kornev, Alexandr P AP; Taylor, Susan S SS; Veglia, Gianluigi G

Publication Date: 2017-04

Variant appearance in text: BRAF: L485F

PubMed Link: 28435869

Variant Present in the following documents:

• Main text
• 1600663.pdf

View BVdb publication page

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BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.

Genes & Development

Lim, Chae-Seok CS; Kang, Xi X; Mirabella, Vincent V; Zhang, Huaye H; Bu, Qian Q; Araki, Yoichi Y; Hoang, Elizabeth T ET; Wang, Shiqiang S; Shen, Ying Y; Choi, Sukwoo S; Kaang, Bong-Kiun BK; Chang, Qiang Q; Pang, Zhiping P ZP; Huganir, Richard L RL; Zhu, J Julius JJ

Publication Date: 2017-03-15

Variant appearance in text: BRAF: L485F

PubMed Link: 28404629

Variant Present in the following documents:

• supp_31.6.537_Supplemental_Materials.pdf

View BVdb publication page

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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: rs180177036

PubMed Link: 27478437

Variant Present in the following documents:

• Main text
• ABI2016-2632917.pdf

View BVdb publication page

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Genomic characterization of high-count MBL cases indicates that early detection of driver mutations and subclonal expansion are predictors of adverse clinical outcome.

Leukemia

Barrio, S S; Shanafelt, T D TD; Ojha, J J; Chaffee, K G KG; Secreto, C C; Kortüm, K M KM; Pathangey, S S; Van-Dyke, D L DL; Slager, S L SL; Fonseca, R R; Kay, N E NE; Braggio, E E

Publication Date: 2017-01

Variant appearance in text: BRAF: L485F

PubMed Link: 27469216

Variant Present in the following documents:

• NIHMS793139-supplement-3.xlsx, sheet 1

View BVdb publication page

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RASopathy Gene Mutations in Melanoma.

The Journal Of Investigative Dermatology

Halaban, Ruth R; Krauthammer, Michael M

Publication Date: 2016-09

Variant appearance in text: BRAF: L485F

PubMed Link: 27236105

Variant Present in the following documents:

• Main text

View BVdb publication page

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: BRAF: L485F

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s004.xlsx, sheet 1

View BVdb publication page

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The yin-yang of kinase activation and unfolding explains the peculiarity of Val600 in the activation segment of BRAF.

Elife

Kiel, Christina C; Benisty, Hannah H; Lloréns-Rico, Veronica V; Serrano, Luis L

Publication Date: 2016-01-08

Variant appearance in text: BRAF: L485F

PubMed Link: 26744778

Variant Present in the following documents:

• elife-12814-supp1.xlsx, sheet 2
• elife-12814.pdf

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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: L485F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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RASopathies: unraveling mechanisms with animal models.

Disease Models & Mechanisms

Jindal, Granton A GA; Goyal, Yogesh Y; Burdine, Rebecca D RD; Rauen, Katherine A KA; Shvartsman, Stanislav Y SY

Publication Date: 2015-08-01

Variant appearance in text: BRAF: L485F

PubMed Link: 26203125

Variant Present in the following documents:

• supp_8.8.769_DMM020339supp.pdf

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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: L485F

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1
• MSB-10-5-727-s14.xlsx, 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: L485F

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Ablation of BRaf impairs neuronal differentiation in the postnatal hippocampus and cerebellum.

Plos One

Pfeiffer, Verena V; Götz, Rudolf R; Xiang, Chaomei C; Camarero, Guadelupe G; Braun, Attila A; Zhang, Yina Y; Blum, Robert R; Heinsen, Helmut H; Nieswandt, Bernhard B; Rapp, Ulf R UR

Publication Date: 2013

Variant appearance in text: BRAF: L485F

PubMed Link: 23505473

Variant Present in the following documents:

• Main text
• pone.0058259.pdf

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