Publications:

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Plasma Sequencing for Patients with GIST-Limitations and Opportunities in an Academic Setting.

Cancers

Falkenhorst, Johanna J; Grunewald, Susanne S; Krzeciesa, Dawid D; Herold, Thomas T; Ketzer, Julia J; Christoff, Miriam M; Hamacher, Rainer R; Kostbade, Karina K; Treckmann, Jürgen J; Köster, Johannes J; Farzaliyev, Farhad F; Fletcher, Benjamin Samulon BS; Dieckmann, Nils N; Kaths, Moritz M; Mühlenberg, Thomas T; Schildhaus, Hans-Ulrich HU; Bauer, Sebastian S

Publication Date: 2022-11-09

Variant appearance in text: KIT: D820N

PubMed Link: 36428589

Variant Present in the following documents:

• Main text
• cancers-14-05496.pdf

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Sequencing of Cutaneous Squamous Cell Carcinoma Primary Tumors and Patient-Matched Metastases Reveals ALK as a Potential Driver in Metastases and Low Mutational Concordance in Immunocompromised Patients.

Jid Innovations : Skin Science From Molecules To Population Health

Lobl, Marissa B MB; Clarey, Dillon D DD; Higgins, Shauna S; Sutton, Adam A; Wysong, Ashley A

Publication Date: 2022-07

Variant appearance in text: KIT: 2458G>A; D820N

PubMed Link: 35620707

Variant Present in the following documents:

• Main text
• main.pdf

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Targeted Deep Sequencing Reveals Unrecognized KIT Mutation Coexistent with NF1 Deficiency in GISTs.

Cancer Management And Research

Wu, Jinchun J; Zhou, Haiyan H; Yi, Xiaoping X; He, Qiongzhi Q; Lei, Tianxiang T; Tan, Fengbo F; Liu, Heli H; Li, Bin B

Publication Date: 2021

Variant appearance in text: KIT: D820N

PubMed Link: 33469372

Variant Present in the following documents:

• Main text
• cmar-13-297.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: D820N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Heliyon

Deng, Qinfang Q; Xie, Boxiong B; Wu, Leilei L; Ji, Xianxiu X; Li, Chao C; Feng, Li L; Fang, Qiyu Q; Bao, Yuchen Y; Li, Jialu J; Jin, Shengnan S; Ding, Chunming C; Li, Yixue Y; Zhou, Songwen S

Publication Date: 2018-12

Variant appearance in text: KIT: D820N

PubMed Link: 30603682

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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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: KIT: D820N

PubMed Link: 29698444

Variant Present in the following documents:

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

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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: KIT: 2458G>A; D820N

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

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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: KIT: D820N

PubMed Link: 26919633

Variant Present in the following documents:

• pone.0149405.s010.xlsx, sheet 1

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Update on imatinib for gastrointestinal stromal tumors: duration of treatment.

Oncotargets And Therapy

Linch, Mark M; Claus, Jeroen J; Benson, Charlotte C

Publication Date: 2013

Variant appearance in text: KIT: D820N

PubMed Link: 23935374

Variant Present in the following documents:

• Main text
• ott-6-1011.pdf

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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: KIT: D820N

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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The energy landscape analysis of cancer mutations in protein kinases.

Plos One

Dixit, Anshuman A; Verkhivker, Gennady M GM

Publication Date: 2011

Variant appearance in text: KIT: D820N

PubMed Link: 21998754

Variant Present in the following documents:

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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: KIT: D820N

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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