Publications:

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: KIT: S821F

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s006.xlsx, sheet 2
• PATH-259-56-s004.xlsx, sheet 2

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The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: KIT: S821F

PubMed Link: 33133066

Variant Present in the following documents:

• Table_6.xlsx, sheet 9
• Table_1.xlsx, sheet 4
• Table_1.xlsx, sheet 8
• Table_2.xlsx, sheet 7
• Table_2.xlsx, sheet 1
• Table_6.xlsx, sheet 4
• Table_2.xlsx, sheet 2

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Landscape of drug-resistance mutations in kinase regulatory hotspots.

Briefings In Bioinformatics

Kim, Pora P; Li, Hanyang H; Wang, Junmei J; Zhao, Zhongming Z

Publication Date: 2021-05-20

Variant appearance in text: KIT: S821F

PubMed Link: 32510566

Variant Present in the following documents:

• Main text

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Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Cancers

Hamid, Abdulaziz B AB; Petreaca, Ruben C RC

Publication Date: 2020-04-09

Variant appearance in text: KIT: S821F

PubMed Link: 32283832

Variant Present in the following documents:

• cancers-12-00927-s001.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: S821F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Techniques of using circulating tumor DNA as a liquid biopsy component in cancer management.

Computational And Structural Biotechnology Journal

Elazezy, Maha M; Joosse, Simon A SA

Publication Date: 2018

Variant appearance in text: KIT: S821F

PubMed Link: 30364656

Variant Present in the following documents:

• Main text
• main.pdf

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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: S821F

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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The stem cell factor (SCF)/c-KIT signalling in testis and prostate cancer.

Journal Of Cell Communication And Signaling

Cardoso, Henrique J HJ; Figueira, Marília I MI; Socorro, Sílvia S

Publication Date: 2017-12

Variant appearance in text: KIT: S821F

PubMed Link: 28656507

Variant Present in the following documents:

• Main text

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Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

Immunology

Haenisch, Britta B; Nöthen, Markus M MM; Molderings, Gerhard J GJ

Publication Date: 2012-11

Variant appearance in text: KIT: S821F

PubMed Link: 22957768

Variant Present in the following documents:

• Main text

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Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas.

Plos One

Hersmus, Remko R; Stoop, Hans H; van de Geijn, Gert Jan GJ; Eini, Ronak R; Biermann, Katharina K; Oosterhuis, J Wolter JW; Dhooge, Catharina C; Schneider, Dominik T DT; Meijssen, Isabelle C IC; Dinjens, Winand N M WN; Dubbink, Hendrikus Jan HJ; Drop, Stenvert L S SL; Looijenga, Leendert H J LH

Publication Date: 2012

Variant appearance in text: KIT: S821F

PubMed Link: 22937135

Variant Present in the following documents:

• Main text
• pone.0043952.pdf

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