Publications:

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: KIT: S451C

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM20_ESM.xlsx, sheet 3
• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

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Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers

González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC

Publication Date: 2022-05-18

Variant appearance in text: KIT: S451C

PubMed Link: 35626091

Variant Present in the following documents:

• Main text
• cancers-14-02487.pdf

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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: S451C

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021.

International Journal Of Molecular Sciences

Lange, Magdalena M; Hartmann, Karin K; Carter, Melody C MC; Siebenhaar, Frank F; Alvarez-Twose, Ivan I; Torrado, Inés I; Brockow, Knut K; Renke, Joanna J; Irga-Jaworska, Ninela N; Plata-Nazar, Katarzyna K; Ługowska-Umer, Hanna H; Czarny, Justyna J; Belloni Fortina, Anna A; Caroppo, Francesca F; Nowicki, Roman J RJ; Nedoszytko, Bogusław B; Niedoszytko, Marek M; Valent, Peter P

Publication Date: 2021-03-04

Variant appearance in text: KIT: S451C

PubMed Link: 33806685

Variant Present in the following documents:

• Main text
• ijms-22-02586.pdf

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: KIT: 1352C>G; S451C

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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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: 1352C>G; S451C

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: S451C

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: KIT: 1352C>G

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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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: S451C

PubMed Link: 32608199

Variant Present in the following documents:

• Main text

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Recent advances in the understanding and therapeutic management of mastocytosis.

F1000Research

Rossignol, Julien J; Polivka, Laura L; Maouche-Chrétien, Leila L; Frenzel, Laurent L; Dubreuil, Patrice P; Hermine, Olivier O

Publication Date: 2019

Variant appearance in text: KIT: S451C

PubMed Link: 31824655

Variant Present in the following documents:

• Main text
• f1000research-8-21341.pdf

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Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine

Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L

Publication Date: 2018-07-27

Variant appearance in text: KIT: S451C

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 19
• 13073_2018_564_MOESM2_ESM.xlsx, sheet 2

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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: KIT: Ser451Cys

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.xlsx, sheet 1

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: KIT: S451C

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

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Mast cell leukemia (MCL): Clinico-pathologic and molecular features and survival outcome.

Leukemia Research

Jain, Preetesh P; Wang, Sa S; Patel, Keyur P KP; Sarwari, Nawid N; Cortes, Jorge J; Kantarjian, Hagop H; Verstovsek, Srdan S

Publication Date: 2017-08

Variant appearance in text: KIT: S451C

PubMed Link: 28599188

Variant Present in the following documents:

• Main text

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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: 1352C>G; S451C

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.

Cell & Bioscience

Ke, Hengning H; Kazi, Julhash U JU; Zhao, Hui H; Sun, Jianmin J

Publication Date: 2016

Variant appearance in text: KIT: S451C

PubMed Link: 27777718

Variant Present in the following documents:

• Main text
• 13578_2016_Article_120.pdf

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Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics

Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y

Publication Date: 2016-04

Variant appearance in text: KIT: S451C

PubMed Link: 27093186

Variant Present in the following documents:

• pgen.1005895.s019.xlsx, sheet 1

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Expression of stem cell factor in gastrointestinal stromal tumors: Implications for proliferation and imatinib resistance.

Oncology Letters

Hou, Xiao-Wei XW; Bai, Chen-Guang CG; Liu, Xiao-Hong XH; Qiu, Cen C; Huang, Ling L; Xu, Jing-Jing JJ; Ma, DA-Lie DL

Publication Date: 2013-02

Variant appearance in text: KIT: S451C

PubMed Link: 23420128

Variant Present in the following documents:

• Main text
• ol-05-02-0552.pdf

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