Publications:

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Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.

International Journal Of Molecular Sciences

Vanni, Irene I; Pastorino, Lorenza L; Tanda, Enrica Teresa ET; Andreotti, Virginia V; Dalmasso, Bruna B; Solari, Nicola N; Mascherini, Matteo M; Cabiddu, Francesco F; Guadagno, Antonio A; Coco, Simona S; Allavena, Eleonora E; Bruno, William W; Pietra, Gabriella G; Croce, Michela M; Gangemi, Rosaria R; Piana, Michele M; Zoppoli, Gabriele G; Ferrando, Lorenzo L; Spagnolo, Francesco F; Queirolo, Paola P; Ghiorzo, Paola P

Publication Date: 2023-02-21

Variant appearance in text: KIT: 181C>A

PubMed Link: 36901733

Variant Present in the following documents:

• ijms-24-04302.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: 181C>A

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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NGS for (Hemato-) Oncology in Belgium: Evaluation of Laboratory Performance and Feasibility of a National External Quality Assessment Program.

Cancers

Delcourt, Thomas T; Vanneste, Kevin K; Soumali, Mohamed Rida MR; Coucke, Wim W; Ghislain, Vanessa V; Hebrant, Aline A; Van Valckenborgh, Els E; De Keersmaecker, Sigrid C J SCJ; Roosens, Nancy H NH; Van De Walle, Philippe P; Van Den Bulcke, Marc M; Antoniou, Aline A

Publication Date: 2020-10-29

Variant appearance in text: KIT: 181C>A

PubMed Link: 33138022

Variant Present in the following documents:

• cancers-12-03180-s001.pdf

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Prevalence of BRAF, NRAS and c-KIT mutations in Slovenian patients with advanced melanoma.

Radiology And Oncology

Moltara, Maja Ebert ME; Novakovic, Srdjan S; Boc, Marko M; Bucic, Marina M; Rebersek, Martina M; Zadnik, Vesna V; Ocvirk, Janja J

Publication Date: 2018-04-26

Variant appearance in text: KIT: 181C>A

PubMed Link: 30210039

Variant Present in the following documents:

• raon-52-289.pdf

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A novel molecular diagnostics platform for somatic and germline precision oncology.

Molecular Genetics & Genomic Medicine

Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J

Publication Date: 2017-07

Variant appearance in text: KIT: 181C>A

PubMed Link: 28717660

Variant Present in the following documents:

• Main text

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Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some heavily pretreated cancer patients.

Medicine

Zick, Aviad A; Peretz, Tamar T; Lotem, Michal M; Hubert, Ayala A; Katz, Daniela D; Temper, Mark M; Rottenberg, Yakir Y; Uziely, Beatrice B; Nechushtan, Hovav H; Meirovitz, Amichai A; Sonnenblick, Amir A; Sapir, Eli E; Edelman, David D; Goldberg, Yael Y; Lossos, Alexander A; Rosenberg, Shai S; Fried, Iris I; Finklstein, Ruth R; Pikarsky, Eli E; Goldshmidt, Hanoch H

Publication Date: 2017-05

Variant appearance in text: KIT: 181C>A

PubMed Link: 28514312

Variant Present in the following documents:

• medi-96-e6931.pdf

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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: P61T

PubMed Link: 26919633

Variant Present in the following documents:

• pone.0149405.s010.xlsx, sheet 2

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