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: N566D

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 8
• PCMR-35-369-s002.pdf

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: KIT: N566D

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Mucosal Melanoma: Pathological Evolution, Pathway Dependency and Targeted Therapy.

Frontiers In Oncology

Ma, Yanni Y; Xia, Ronghui R; Ma, Xuhui X; Judson-Torres, Robert L RL; Zeng, Hanlin H

Publication Date: 2021

Variant appearance in text: KIT: N566D

PubMed Link: 34350118

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Human Melanoma Proteome Atlas-Complementing the melanoma transcriptome.

Clinical And Translational Medicine

Betancourt, Lazaro Hiram LH; Gil, Jeovanis J; Sanchez, Aniel A; Doma, Viktória V; Kuras, Magdalena M; Murillo, Jimmy Rodriguez JR; Velasquez, Erika E; Çakır, Uğur U; Kim, Yonghyo Y; Sugihara, Yutaka Y; Parada, Indira Pla IP; Szeitz, Beáta B; Appelqvist, Roger R; Wieslander, Elisabet E; Welinder, Charlotte C; de Almeida, Natália Pinto NP; Woldmar, Nicole N; Marko-Varga, Matilda M; Eriksson, Jonatan J; Pawłowski, Krzysztof K; Baldetorp, Bo B; Ingvar, Christian C; Olsson, Håkan H; Lundgren, Lotta L; Lindberg, Henrik H; Oskolas, Henriett H; Lee, Boram B; Berge, Ethan E; Sjögren, Marie M; Eriksson, Carina C; Kim, Dasol D; Kwon, Ho Jeong HJ; Knudsen, Beatrice B; Rezeli, Melinda M; Malm, Johan J; Hong, Runyu R; Horvath, Peter P; Szász, A Marcell AM; Tímár, József J; Kárpáti, Sarolta S; Horvatovich, Peter P; Miliotis, Tasso T; Nishimura, Toshihide T; Kato, Harubumi H; Steinfelder, Erik E; Oppermann, Madalina M; Miller, Ken K; Florindi, Francesco F; Zhou, Quimin Q; Domont, Gilberto B GB; Pizzatti, Luciana L; Nogueira, Fábio C S FCS; Szadai, Leticia L; Németh, István Balázs IB; Ekedahl, Henrik H; Fenyö, David D; Marko-Varga, György G

Publication Date: 2021-07

Variant appearance in text: KIT: N566D

PubMed Link: 34323402

Variant Present in the following documents:

• Main text
• CTM2-11-e451.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: 1696A>G; N566D

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, 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: N566D

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs1057519705

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KIT: N566D

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KIT: 1696A>G; Asn566Asp

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: KIT: N566D

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11

View BVdb publication page

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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: N566D

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 1
• 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: 1696A>G; N566D

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

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A phase 2 trial of dasatinib in patients with locally advanced or stage IV mucosal, acral, or vulvovaginal melanoma: A trial of the ECOG-ACRIN Cancer Research Group (E2607).

Cancer

Kalinsky, Kevin K; Lee, Sandra S; Rubin, Krista M KM; Lawrence, Donald P DP; Iafrarte, Anthony J AJ; Borger, Darell R DR; Margolin, Kim A KA; Leitao, Mario M MM; Tarhini, Ahmad A AA; Koon, Henry B HB; Pecora, Andrew L AL; Jaslowski, Anthony J AJ; Cohen, Gary I GI; Kuzel, Timothy M TM; Lao, Christopher D CD; Kirkwood, John M JM

Publication Date: 2017-07-15

Variant appearance in text: KIT: N566D

PubMed Link: 28334439

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phase II Trial of Nilotinib in Patients With Metastatic Malignant Melanoma Harboring KIT Gene Aberration: A Multicenter Trial of Korean Cancer Study Group (UN10-06).

The Oncologist

Lee, Su Jin SJ; Kim, Tae Min TM; Kim, Yu Jung YJ; Jang, Kee-Taek KT; Lee, Hyo Jin HJ; Lee, Soon Nam SN; Ahn, Mi Sun MS; Hwang, In Gyu IG; Lee, Suee S; Lee, Moon-Hee MH; Lee, Jeeyun J

Publication Date: 2015-11

Variant appearance in text: KIT: N566D

PubMed Link: 26424760

Variant Present in the following documents:

• Main text

View BVdb publication page

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Massively parallel sequencing fails to detect minor resistant subclones in tissue samples prior to tyrosine kinase inhibitor therapy.

Bmc Cancer

Heydt, Carina C; Kumm, Niklas N; Fassunke, Jana J; Künstlinger, Helen H; Ihle, Michaela Angelika MA; Scheel, Andreas A; Schildhaus, Hans-Ulrich HU; Haller, Florian F; Büttner, Reinhard R; Odenthal, Margarete M; Wardelmann, Eva E; Merkelbach-Bruse, Sabine S

Publication Date: 2015-04-15

Variant appearance in text: KIT: N566D

PubMed Link: 25886408

Variant Present in the following documents:

• Main text
• 12885_2015_Article_1311.pdf

View BVdb publication page

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Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology

Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF

Publication Date: 2012-02

Variant appearance in text: KIT: N566D

PubMed Link: 21748247

Variant Present in the following documents:

• 10434_2011_1892_MOESM2_ESM.pdf

View BVdb publication page

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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: N566D

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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