Publications:

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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: KIT: E554K

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s002.pdf

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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: KIT: 1660G>A; E554K

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Cell & Bioscience

Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J

Publication Date: 2020

Variant appearance in text: KIT: E554K

PubMed Link: 32082541

Variant Present in the following documents:

• Main text
• 13578_2020_Article_377.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: E554K

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2
• pone.0196434.s001.xlsx, sheet 1

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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: E554K

PubMed Link: 22957768

Variant Present in the following documents:

• Main text

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Proteomic detection of a large amount of SCGFα in the stroma of GISTs after imatinib therapy.

Journal Of Translational Medicine

Da Riva, Luca L; Bozzi, Fabio F; Mondellini, Piera P; Miccichè, Francesca F; Fumagalli, Elena E; Vaghi, Elena E; Tarantino, Eva E; Huber, Veronica V; Gronchi, Alessandro A; Tamborini, Elena E; Pierotti, Marco A MA; Pilotti, Silvana S; Bongarzone, Italia I

Publication Date: 2011-09-23

Variant appearance in text: KIT: E554K

PubMed Link: 21943129

Variant Present in the following documents:

• Main text
• 1479-5876-9-158.pdf

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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: E554K

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Is autophagy rather than apoptosis the regression driver in imatinib-treated gastrointestinal stromal tumors?

Translational Oncology

Miselli, Francesca F; Negri, Tiziana T; Gronchi, Alessandro A; Losa, Marco M; Conca, Elena E; Brich, Silvia S; Fumagalli, Elena E; Fiore, Marco M; Casali, Paolo G PG; Pierotti, Marco A MA; Tamborini, Elena E; Pilotti, Silvana S

Publication Date: 2008-12

Variant appearance in text: KIT: E554K

PubMed Link: 19043528

Variant Present in the following documents:

• Main text

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