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: V569A

PubMed Link: 36428589

Variant Present in the following documents:

• Main text
• cancers-14-05496.pdf

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: KIT: 1706T>C; V569A

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: KIT: V569A

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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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: KIT: 1706T>C; V569A

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: KIT: V569A

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

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KIT and Melanoma: Biological Insights and Clinical Implications.

Yonsei Medical Journal

Pham, Duc Daniel M DDM; Guhan, Samantha S; Tsao, Hensin H

Publication Date: 2020-07

Variant appearance in text: KIT: V569A

PubMed Link: 32608199

Variant Present in the following documents:

• Main text

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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: V569A

PubMed Link: 29698444

Variant Present in the following documents:

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

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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: KIT: 1706T>C; V569A

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: KIT: 1706T>C; V569A

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Targeted next generation sequencing reveals unique mutation profile of primary melanocytic tumors of the central nervous system.

Journal Of Neuro-Oncology

van de Nes, Johannes J; Gessi, Marco M; Sucker, Antje A; Möller, Inga I; Stiller, Mathias M; Horn, Susanne S; Scholz, Simone L SL; Pischler, Carina C; Stadtler, Nadine N; Schilling, Bastian B; Zimmer, Lisa L; Hillen, Uwe U; Scolyer, Richard A RA; Buckland, Michael E ME; Lauriola, Libero L; Pietsch, Torsten T; Waha, Andreas A; Schadendorf, Dirk D; Murali, Rajmohan R; Griewank, Klaus G KG

Publication Date: 2016-05

Variant appearance in text: KIT: V569A

PubMed Link: 26744134

Variant Present in the following documents:

• Main text

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MITF and c-Jun antagonism interconnects melanoma dedifferentiation with pro-inflammatory cytokine responsiveness and myeloid cell recruitment.

Nature Communications

Riesenberg, Stefanie S; Groetchen, Angela A; Siddaway, Robert R; Bald, Tobias T; Reinhardt, Julia J; Smorra, Denise D; Kohlmeyer, Judith J; Renn, Marcel M; Phung, Bengt B; Aymans, Pia P; Schmidt, Tobias T; Hornung, Veit V; Davidson, Irwin I; Goding, Colin R CR; Jönsson, Göran G; Landsberg, Jennifer J; Tüting, Thomas T; Hölzel, Michael M

Publication Date: 2015-11-04

Variant appearance in text: KIT: V569A

PubMed Link: 26530832

Variant Present in the following documents:

• ncomms9755-s1.pdf

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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: KIT: 1706T>C; V569A

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: KIT: 1706T>C; V569A

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

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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: V569A

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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