Publications:

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The Genomic Landscape of Melanoma and Its Therapeutic Implications.

Genes

Yang, Ting-Ting TT; Yu, Sebastian S; Ke, Chiao-Li Khale CK; Cheng, Shih-Tsung ST

Publication Date: 2023-04-29

Variant appearance in text: BRAF: V600L

PubMed Link: 37239381

Variant Present in the following documents:

• Main text
• genes-14-01021.pdf

View BVdb publication page

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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: V600L

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM4_ESM.xls, sheet 2

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: 1798G>C; Val600Leu

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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Whole-genome characterization of myoepithelial carcinomas of the soft tissue.

Cold Spring Harbor Molecular Case Studies

Cyrta, Joanna J; Rosiene, Joel J; Bareja, Rohan R; Kudman, Sarah S; Al Zoughbi, Wael W; Motanagh, Samaneh S; Wilkes, David C DC; Eng, Kenneth K; Zhang, Tuo T; Sticca, Evan E; Mathew, Susan S; Rubin, Mark A MA; Sboner, Andrea A; Elemento, Olivier O; Rubin, Brian P BP; Imielinski, Marcin M; Mosquera, Juan Miguel JM

Publication Date: 2022-12

Variant appearance in text: BRAF: V600L

PubMed Link: 36577525

Variant Present in the following documents:

• supp_mcs.a006227_Supplemental_Table_1.xlsx, sheet 2

View BVdb publication page

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Improvements in Quality Control and Library Preparation for Targeted Sequencing Allowed Detection of Potentially Pathogenic Alterations in Circulating Cell-Free DNA Derived from Plasma of Brain Tumor Patients.

Cancers

Szadkowska, Paulina P; Roura, Adria-Jaume AJ; Wojtas, Bartosz B; Wojnicki, Kamil K; Licholai, Sabina S; Waller, Tomasz T; Gubala, Tomasz T; Zukowski, Kacper K; Karpeta, Michal M; Wilkus, Kinga K; Kaspera, Wojciech W; Nawrocki, Sergiusz S; Kaminska, Bozena B

Publication Date: 2022-08-12

Variant appearance in text: rs121913378

PubMed Link: 36010895

Variant Present in the following documents:

• cancers-14-03902.pdf

View BVdb publication page

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Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Frontiers In Oncology

Yin, Xiang-Qian XQ; Yin, Xue-Hui XH; Yu, Ya-Qin YQ; Xu, Lang L; Zhang, Mao M

Publication Date: 2022

Variant appearance in text: BRAF: 1798G>C; V600L

PubMed Link: 35936718

Variant Present in the following documents:

• Table_4.xlsx, sheet 2

View BVdb publication page

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: N/A

PubMed Link: 35835912

Variant Present in the following documents:

View BVdb publication page

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Altered Signaling Pathways Revealed by Comprehensive Genomic Profiling in Patients With Unknown Primary Tumors.

Frontiers In Oncology

Yang, Zhen Z; Cui, Wei W; Yu, Ruoying R; Dong, Xinhua X; Zhao, Jian J; Dai, Lu L; Ou, Qiuxiang Q; Bao, Hua H; Wu, Xue X; Wu, Chuanxin C; Lai, Jinhuo J

Publication Date: 2022

Variant appearance in text: BRAF: V600L

PubMed Link: 35402276

Variant Present in the following documents:

• Main text
• fonc-12-753311.pdf

View BVdb publication page

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Targeted Therapy for Melanomas Without BRAF V600 Mutations.

Current Treatment Options In Oncology

Menzer, Christian C; Hassel, Jessica C JC

Publication Date: 2022-06

Variant appearance in text: BRAF: V600L

PubMed Link: 35380338

Variant Present in the following documents:

• Main text
• 11864_2022_Article_946.pdf

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: V600L

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s002.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: V600L

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Orthogonal MET analysis in a population-representative stage II-III colon cancer cohort: prognostic and potential therapeutic implications.

Molecular Oncology

Craig, Stephanie G SG; Mende, Svenja S; Humphries, Matthew P MP; Bingham, Victoria V; Viratham Pulsawatdi, Amélie A; Loughrey, Maurice B MB; Coleman, Helen G HG; McQuaid, Stephen S; Wilson, Richard H RH; Van Schaeybroeck, Sandra S; James, Jacqueline A JA; Salto-Tellez, Manuel M

Publication Date: 2021-12

Variant appearance in text: BRAF: V600L

PubMed Link: 34428346

Variant Present in the following documents:

• Main text
• MOL2-15-3317.pdf

View BVdb publication page

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Orthogonal MET analysis in a population-representative stage II-III colon cancer cohort: prognostic and potential therapeutic implications.

Molecular Oncology

Craig, Stephanie G SG; Mende, Svenja S; Humphries, Matthew P MP; Bingham, Victoria V; Viratham Pulsawatdi, Amélie A; Loughrey, Maurice B MB; Coleman, Helen G HG; McQuaid, Stephen S; Wilson, Richard H RH; Van Schaeybroeck, Sandra S; James, Jacqueline A JA; Salto-Tellez, Manuel M

Publication Date: 2021-12

Variant appearance in text: BRAF: V600L

PubMed Link: 34428346

Variant Present in the following documents:

• Main text
• MOL2-15-3317.pdf

View BVdb publication page

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The tumor genetics of acral melanoma: What should a dermatologist know?

Jaad International

Tod, Bianca M BM; Schneider, Johann W JW; Bowcock, Anne M AM; Visser, Willem I WI; Kotze, Maritha J MJ

Publication Date: 2020-12

Variant appearance in text: BRAF: V600L

PubMed Link: 34355205

Variant Present in the following documents:

• Main text
• main.pdf

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: 1798G>C; V600L

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Precision Approaches in the Management of Colorectal Cancer: Current Evidence and Latest Advancements Towards Individualizing the Treatment.

Cancers

Shuford, Rebecca A RA; Cairns, Ashley L AL; Moaven, Omeed O

Publication Date: 2020-11-23

Variant appearance in text: BRAF: V600L

PubMed Link: 33238500

Variant Present in the following documents:

• Main text
• cancers-12-03481.pdf

View BVdb publication page

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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: rs121913378

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, 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: rs121913378

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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The relationships between systemic cytokine profiles and inflammatory markers in colorectal cancer and the prognostic significance of these parameters.

British Journal Of Cancer

Park, Ji Won JW; Chang, Hee Jin HJ; Yeo, Hyun Yang HY; Han, Nayoung N; Kim, Byung Chang BC; Kong, Sun-Young SY; Kim, Jeongseon J; Oh, Jae Hwan JH

Publication Date: 2020-08

Variant appearance in text: BRAF: V600L

PubMed Link: 32488137

Variant Present in the following documents:

• 41416_2020_924_MOESM1_ESM.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: V600L

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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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: V600L

PubMed Link: 31470866

Variant Present in the following documents:

• Main text
• 12967_2019_Article_2036.pdf

View BVdb publication page

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Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine

Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-28

Variant appearance in text: rs121913378

PubMed Link: 31455347

Variant Present in the following documents:

• 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Atypical BRAF and NRAS Mutations in Mucosal Melanoma.

Cancers

Dumaz, Nicolas N; Jouenne, Fanélie F; Delyon, Julie J; Mourah, Samia S; Bensussan, Armand A; Lebbé, Céleste C

Publication Date: 2019-08-08

Variant appearance in text: BRAF: V600L

PubMed Link: 31398831

Variant Present in the following documents:

• cancers-11-01133.pdf

View BVdb publication page

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PEDIA: prioritization of exome data by image analysis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Hsieh, Tzung-Chien TC; Mensah, Martin A MA; Pantel, Jean T JT; Aguilar, Dione D; Bar, Omri O; Bayat, Allan A; Becerra-Solano, Luis L; Bentzen, Heidi B HB; Biskup, Saskia S; Borisov, Oleg O; Braaten, Oivind O; Ciaccio, Claudia C; Coutelier, Marie M; Cremer, Kirsten K; Danyel, Magdalena M; Daschkey, Svenja S; Eden, Hilda David HD; Devriendt, Koenraad K; Wilson, Sandra S; Douzgou, Sofia S; Đukić, Dejan D; Ehmke, Nadja N; Fauth, Christine C; Fischer-Zirnsak, Björn B; Fleischer, Nicole N; Gabriel, Heinz H; Graul-Neumann, Luitgard L; Gripp, Karen W KW; Gurovich, Yaron Y; Gusina, Asya A; Haddad, Nechama N; Hajjir, Nurulhuda N; Hanani, Yair Y; Hertzberg, Jakob J; Hoertnagel, Konstanze K; Howell, Janelle J; Ivanovski, Ivan I; Kaindl, Angela A; Kamphans, Tom T; Kamphausen, Susanne S; Karimov, Catherine C; Kathom, Hadil H; Keryan, Anna A; Knaus, Alexej A; Köhler, Sebastian S; Kornak, Uwe U; Lavrov, Alexander A; Leitheiser, Maximilian M; Lyon, Gholson J GJ; Mangold, Elisabeth E; Reina, Purificación Marín PM; Carrascal, Antonio Martinez AM; Mitter, Diana D; Herrador, Laura Morlan LM; Nadav, Guy G; Nöthen, Markus M; Orrico, Alfredo A; Ott, Claus-Eric CE; Park, Kristen K; Peterlin, Borut B; Pölsler, Laura L; Raas-Rothschild, Annick A; Randolph, Linda L; Revencu, Nicole N; Fagerberg, Christina Ringmann CR; Robinson, Peter Nick PN; Rosnev, Stanislav S; Rudnik, Sabine S; Rudolf, Gorazd G; Schatz, Ulrich U; Schossig, Anna A; Schubach, Max M; Shanoon, Or O; Sheridan, Eamonn E; Smirin-Yosef, Pola P; Spielmann, Malte M; Suk, Eun-Kyung EK; Sznajer, Yves Y; Thiel, Christian T CT; Thiel, Gundula G; Verloes, Alain A; Vrecar, Irena I; Wahl, Dagmar D; Weber, Ingrid I; Winter, Korina K; Wiśniewska, Marzena M; Wollnik, Bernd B; Yeung, Ming W MW; Zhao, Max M; Zhu, Na N; Zschocke, Johannes J; Mundlos, Stefan S; Horn, Denise D; Krawitz, Peter M PM

Publication Date: 2019-12

Variant appearance in text: BRAF: 1798G>C

PubMed Link: 31164752

Variant Present in the following documents:

• 41436_2019_566_MOESM2_ESM.xlsx, sheet 1

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: N/A

PubMed Link: 31034466

Variant Present in the following documents:

View BVdb publication page

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RAS Mutation in Mucinous Carcinoma of the Ovary

Asian Pacific Journal Of Cancer Prevention : Apjcp

Panyavaranant, Pinyada P; Teerapakpinyo, Chinachote C; Pohthipornthawat, Natkrita N; Oranratanaphan, Shina S; Shuangshoti, Shanop S; Triratanachat, Surang S

Publication Date: 2019-04-29

Variant appearance in text: BRAF: V600L

PubMed Link: 31030485

Variant Present in the following documents:

• Main text
• APJCP-20-1127.pdf

View BVdb publication page

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: BRAF: 1798G>C; Val600Leu

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 5

View BVdb publication page

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An Integrated Next-Generation Sequencing System for Analyzing DNA Mutations, Gene Fusions, and RNA Expression in Lung Cancer.

Translational Oncology

Haynes, Brian C BC; Blidner, Richard A RA; Cardwell, Robyn D RD; Zeigler, Robert R; Gokul, Shobha S; Thibert, Julie R JR; Chen, Liangjing L; Fujimoto, Junya J; Papadimitrakopoulou, Vassiliki A VA; Wistuba, Ignacio I II; Latham, Gary J GJ

Publication Date: 2019-06

Variant appearance in text: N/A

PubMed Link: 30981944

Variant Present in the following documents:

View BVdb publication page

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Distinct Molecular Profiles and Immunotherapy Treatment Outcomes of V600E and V600K BRAF-Mutant Melanoma.

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

Pires da Silva, Inês I; Wang, Kevin Y X KYX; Wilmott, James S JS; Holst, Jeff J; Carlino, Matteo S MS; Park, John J JJ; Quek, Camelia C; Wongchenko, Matthew M; Yan, Yibing Y; Mann, Graham G; Johnson, Douglas B DB; McQuade, Jennifer L JL; Rai, Rajat R; Kefford, Richard F RF; Rizos, Helen H; Scolyer, Richard A RA; Yang, Jean Y H JYH; Long, Georgina V GV; Menzies, Alexander M AM

Publication Date: 2019-02-15

Variant appearance in text: BRAF: V600L

PubMed Link: 30630828

Variant Present in the following documents:

• Main text

View BVdb publication page

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KIT, NRAS, BRAF and FMNL2 mutations in oral mucosal melanoma and a systematic review of the literature.

Oncology Letters

Chen, Feng F; Zhang, Qian Q; Wang, Yanjin Y; Wang, Siwen S; Feng, Shawein S; Qi, Liyuan L; Li, Xuefen X; Ding, Chong C

Publication Date: 2018-06

Variant appearance in text: BRAF: V600L

PubMed Link: 29805686

Variant Present in the following documents:

• Main text
• ol-15-06-9786.pdf

View BVdb publication page

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Bcl-xL as a poor prognostic biomarker and predictor of response to adjuvant chemotherapy specifically in BRAF-mutant stage II and III colon cancer.

Oncotarget

Dunne, Philip D PD; Coleman, Helen G HG; Bankhead, Peter P; Alderdice, Matthew M; Gray, Ronan T RT; McQuaid, Stephen S; Bingham, Victoria V; Loughrey, Maurice B MB; James, Jacqueline A JA; McCorry, Amy M B AMB; Gilmore, Alan A; Holohan, Caitriona C; Klingbiel, Dirk D; Tejpar, Sabine S; Johnston, Patrick G PG; McArt, Darragh G DG; Di Nicolantonio, Federica F; Longley, Daniel B DB; Lawler, Mark M

Publication Date: 2018-03-02

Variant appearance in text: BRAF: V600L

PubMed Link: 29568398

Variant Present in the following documents:

• Main text
• oncotarget-09-13834.pdf

View BVdb publication page

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Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale.

Genome Biology

Kotlar, Alex V AV; Trevino, Cristina E CE; Zwick, Michael E ME; Cutler, David J DJ; Wingo, Thomas S TS

Publication Date: 2018-02-06

Variant appearance in text: rs121913378

PubMed Link: 29409527

Variant Present in the following documents:

• 13059_2018_1387_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Intracardiac Metastases Detected by 18F-FSPG PET/CT.

Clinical Nuclear Medicine

Magarik, Meaghan A MA; Walker, Ronald C RC; Gilbert, Jill J; Manning, H Charles HC; Massion, Pierre P PP

Publication Date: 2018-01

Variant appearance in text: BRAF: V600L

PubMed Link: 29076915

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation of NRAS is a rare genetic event in ovarian low-grade serous carcinoma.

Human Pathology

Xing, Deyin D; Suryo Rahmanto, Yohan Y; Zeppernick, Felix F; Hannibal, Charlotte G CG; Kjaer, Susanne K SK; Vang, Russell R; Shih, Ie-Ming IM; Wang, Tian-Li TL

Publication Date: 2017-10

Variant appearance in text: N/A

PubMed Link: 28873354

Variant Present in the following documents:

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: BRAF: 1798G>C; V600L

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.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: rs121913378

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: N/A

PubMed Link: 28492226

Variant Present in the following documents:

View BVdb publication page

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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: 1798G>C; V600L

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

View BVdb publication page

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Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

Plos One

de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP

Publication Date: 2016

Variant appearance in text: BRAF: V600L

PubMed Link: 26919633

Variant Present in the following documents:

• pone.0149405.s010.xlsx, sheet 2

View BVdb publication page

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Overexpression of wildtype EGFR is tumorigenic and denotes a therapeutic target in non-small cell lung cancer.

Oncotarget

Xu, Naiqing N; Fang, Wenfeng W; Mu, Libing L; Tang, Yanna Y; Gao, Lei L; Ren, Shengxiang S; Cao, Dengfeng D; Zhou, Lixin L; Zhang, Aiqun A; Liu, Deruo D; Zhou, Caicun C; Wong, Kwok-Kin KK; Yu, Lei L; Zhang, Li L; Chen, Liang L

Publication Date: 2016-01-26

Variant appearance in text: BRAF: V600L

PubMed Link: 26646697

Variant Present in the following documents:

• oncotarget-07-3884-s001.pdf

View BVdb publication page

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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: N/A

PubMed Link: 26502337

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Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell

Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R

Publication Date: 2015-09-24

Variant appearance in text: N/A

PubMed Link: 26388441

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The Clinicopathological Features of BRAF Mutated Papillary Thyroid Cancers in Chinese Patients.

International Journal Of Endocrinology

Yang, Li-Bo LB; Sun, Lin-Yong LY; Jiang, Yong Y; Tang, Ying Y; Li, Zhi-Hui ZH; Zhang, Hong-Ying HY; Bu, Hong H; Ye, Feng F

Publication Date: 2015

Variant appearance in text: N/A

PubMed Link: 26273300

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Detection of KRAS, NRAS and BRAF by mass spectrometry - a sensitive, reliable, fast and cost-effective technique.

Diagnostic Pathology

Kriegsmann, Mark M; Arens, Norbert N; Endris, Volker V; Weichert, Wilko W; Kriegsmann, Jörg J

Publication Date: 2015-07-30

Variant appearance in text: N/A

PubMed Link: 26220423

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Absence of 19 known hotspot oncogenic mutations in soft tissue clear cell sarcoma: two cases report with review of the literature.

International Journal Of Clinical And Experimental Pathology

Liu, Chunxia C; Ren, Yan Y; Li, Xiaoying X; Cao, Yuwen Y; Chen, Yunzhao Y; Cui, Xiaobin X; Li, Li L; Li, Feng F

Publication Date: 2014

Variant appearance in text: BRAF: V600L

PubMed Link: 25197404

Variant Present in the following documents:

• Main text

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Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

The Journal Of Molecular Diagnostics : Jmd

MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI

Publication Date: 2014-11

Variant appearance in text: BRAF: V600L

PubMed Link: 25157968

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• Main text

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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: V600L

PubMed Link: 24836576

Variant Present in the following documents:

• NIHMS531666-supplement-10.xlsx, sheet 1

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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: V600L

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1

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Oncogene mutational profile in nasopharyngeal carcinoma.

Oncotargets And Therapy

Zhang, Zi-Chen ZC; Fu, Sha S; Wang, Fang F; Wang, Hai-Yun HY; Zeng, Yi-Xin YX; Shao, Jian-Yong JY

Publication Date: 2014

Variant appearance in text: BRAF: V600L

PubMed Link: 24672248

Variant Present in the following documents:

• Main text
• ott-7-457.pdf

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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: V600L

PubMed Link: 24413733

Variant Present in the following documents:

• NIHMS547859-supplement-1.xlsx, sheet 3

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Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer.

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

Cardarella, Stephanie S; Ogino, Atsuko A; Nishino, Mizuki M; Butaney, Mohit M; Shen, Jeanne J; Lydon, Christine C; Yeap, Beow Y BY; Sholl, Lynette M LM; Johnson, Bruce E BE; Jänne, Pasi A PA

Publication Date: 2013-08-15

Variant appearance in text: N/A

PubMed Link: 23833300

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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: N/A

PubMed Link: 23819521

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Network quantification of EGFR signaling unveils potential for targeted combination therapy.

Molecular Systems Biology

Klinger, Bertram B; Sieber, Anja A; Fritsche-Guenther, Raphaela R; Witzel, Franziska F; Berry, Leanne L; Schumacher, Dirk D; Yan, Yibing Y; Durek, Pawel P; Merchant, Mark M; Schäfer, Reinhold R; Sers, Christine C; Blüthgen, Nils N

Publication Date: 2013

Variant appearance in text: rs121913378

PubMed Link: 23752269

Variant Present in the following documents:

• msb201329-s3.xls, sheet 1

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Loss of expression and promoter methylation of SLIT2 are associated with sessile serrated adenoma formation.

Plos Genetics

Beggs, Andrew D AD; Jones, Angela A; Shepherd, Neil N; Arnaout, Abed A; Finlayson, Caroline C; Abulafi, A Muti AM; Morton, Dion G DG; Matthews, Glenn M GM; Hodgson, Shirley V SV; Tomlinson, Ian P M IP

Publication Date: 2013-05

Variant appearance in text: BRAF: V600L

PubMed Link: 23671423

Variant Present in the following documents:

• Main text

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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: V600L

PubMed Link: 23555633

Variant Present in the following documents:

• Main text
• pone.0059221.pdf
• pone.0059221.s002.pdf

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Genotyping and genomic profiling of non-small-cell lung cancer: implications for current and future therapies.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Li, Tianhong T; Kung, Hsing-Jien HJ; Mack, Philip C PC; Gandara, David R DR

Publication Date: 2013-03-10

Variant appearance in text: N/A

PubMed Link: 23401433

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A study of genomic instability in early preneoplastic colonic lesions.

Oncogene

Beggs, A D AD; Domingo, E E; Abulafi, M M; Hodgson, S V SV; Tomlinson, I P M IP

Publication Date: 2013-11-14

Variant appearance in text: BRAF: 1798G>C

PubMed Link: 23246972

Variant Present in the following documents:

• Main text

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KRAS, BRAF and PIK3CA mutations and the loss of PTEN expression in Chinese patients with colorectal cancer.

Plos One

Mao, Chen C; Zhou, Junhua J; Yang, Zuyao Z; Huang, Yafang Y; Wu, Xinyin X; Shen, Hong H; Tang, Jinling J; Chen, Qing Q

Publication Date: 2012

Variant appearance in text: BRAF: V600L

PubMed Link: 22586484

Variant Present in the following documents:

• Main text

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The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity.

Nature

Barretina, Jordi J; Caponigro, Giordano G; Stransky, Nicolas N; Venkatesan, Kavitha K; Margolin, Adam A AA; Kim, Sungjoon S; Wilson, Christopher J CJ; Lehár, Joseph J; Kryukov, Gregory V GV; Sonkin, Dmitriy D; Reddy, Anupama A; Liu, Manway M; Murray, Lauren L; Berger, Michael F MF; Monahan, John E JE; Morais, Paula P; Meltzer, Jodi J; Korejwa, Adam A; Jané-Valbuena, Judit J; Mapa, Felipa A FA; Thibault, Joseph J; Bric-Furlong, Eva E; Raman, Pichai P; Shipway, Aaron A; Engels, Ingo H IH; Cheng, Jill J; Yu, Guoying K GK; Yu, Jianjun J; Aspesi, Peter P; de Silva, Melanie M; Jagtap, Kalpana K; Jones, Michael D MD; Wang, Li L; Hatton, Charles C; Palescandolo, Emanuele E; Gupta, Supriya S; Mahan, Scott S; Sougnez, Carrie C; Onofrio, Robert C RC; Liefeld, Ted T; MacConaill, Laura L; Winckler, Wendy W; Reich, Michael M; Li, Nanxin N; Mesirov, Jill P JP; Gabriel, Stacey B SB; Getz, Gad G; Ardlie, Kristin K; Chan, Vivien V; Myer, Vic E VE; Weber, Barbara L BL; Porter, Jeff J; Warmuth, Markus M; Finan, Peter P; Harris, Jennifer L JL; Meyerson, Matthew M; Golub, Todd R TR; Morrissey, Michael P MP; Sellers, William R WR; Schlegel, Robert R; Garraway, Levi A LA

Publication Date: 2012-03-28

Variant appearance in text: BRAF: 1798G>C; V600L

PubMed Link: 22460905

Variant Present in the following documents:

• NIHMS361223-supplement-4.xlsx, sheet 3

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Oncogene Mutation Survey in MPNST Cell Lines Enhances the Dominant Role of Hyperactive Ras in NF1 Associated Pro-Survival and Malignancy.

Translational Oncogenomics

Sun, Daochun D; Tainsky, Michael A MA; Haddad, Ramsi R

Publication Date: 2012

Variant appearance in text: BRAF: V600L

PubMed Link: 22346343

Variant Present in the following documents:

• Main text

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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: V600L

PubMed Link: 21748247

Variant Present in the following documents:

• 10434_2011_1892_MOESM2_ESM.pdf

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Profiling critical cancer gene mutations in clinical tumor samples.

Plos One

MacConaill, Laura E LE; Campbell, Catarina D CD; Kehoe, Sarah M SM; Bass, Adam J AJ; Hatton, Charles C; Niu, Lili L; Davis, Matt M; Yao, Keluo K; Hanna, Megan M; Mondal, Chandrani C; Luongo, Lauren L; Emery, Caroline M CM; Baker, Alissa C AC; Philips, Juliet J; Goff, Deborah J DJ; Fiorentino, Michelangelo M; Rubin, Mark A MA; Polyak, Kornelia K; Chan, Jennifer J; Wang, Yuexiang Y; Fletcher, Jonathan A JA; Santagata, Sandro S; Corso, Gianni G; Roviello, Franco F; Shivdasani, Ramesh R; Kieran, Mark W MW; Ligon, Keith L KL; Stiles, Charles D CD; Hahn, William C WC; Meyerson, Matthew L ML; Garraway, Levi A LA

Publication Date: 2009-11-18

Variant appearance in text: BRAF: V600L

PubMed Link: 19924296

Variant Present in the following documents:

• pone.0007887.s002.xls, sheet 1

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