Publications:

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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: 1669_1677del; W557_V559del

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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KIT and PDGFRa mutational patterns in Sardinian patients with gastrointestinal stromal tumors.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)

Palomba, Grazia G; Paliogiannis, Panagiotis P; Sini, Maria C MC; Colombino, Maria M; Casula, Milena M; Manca, Antonella A; Pisano, Marina M; Sotgiu, Giovanni G; Doneddu, Valentina V; Palmieri, Giuseppe G; Cossu, Antonio A

Publication Date: 2021-01

Variant appearance in text: KIT: 1669_1677del; Trp557_Val559del

PubMed Link: 32091431

Variant Present in the following documents:

• ejcp-30-53-s001.pdf

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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: 1669_1677del; W557_V559del

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1669_1677del; W557_V559del

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

View BVdb publication page

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Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

The Journal Of Pathology. Clinical Research

Presneau, Nadège N; Baumhoer, Daniel D; Behjati, Sam S; Pillay, Nischalan N; Tarpey, Patrick P; Campbell, Peter J PJ; Jundt, Gernot G; Hamoudi, Rifat R; Wedge, David C DC; Loo, Peter Van PV; Hassan, A Bassim AB; Khatri, Bhavisha B; Ye, Hongtao H; Tirabosco, Roberto R; Amary, M Fernanda MF; Flanagan, Adrienne M AM

Publication Date: 2015-04

Variant appearance in text: KIT: 1669_1677del

PubMed Link: 27499898

Variant Present in the following documents:

• CJP2-1-113-s004.xlsx, sheet 1

View BVdb publication page

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Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors.

Bmc Medical Genetics

Merkelbach-Bruse, Sabine S; Dietmaier, Wolfgang W; Füzesi, Laszlo L; Gaumann, Andreas A; Haller, Florian F; Kitz, Julia J; Krohn, Antje A; Mechtersheimer, Gunhild G; Penzel, Roland R; Schildhaus, Hans-Ulrich HU; Schneider-Stock, Regine R; Simon, Ronald R; Wardelmann, Eva E

Publication Date: 2010-07-04

Variant appearance in text: KIT: W557_V559del

PubMed Link: 20598160

Variant Present in the following documents:

• Main text
• 1471-2350-11-106.pdf

View BVdb publication page

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