Publications:

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Combining Three Tyrosine Kinase Inhibitors: Drug Monitoring Is the Key.

International Journal Of Molecular Sciences

Thomas, Quentin Dominique QD; Firmin, Nelly N; Mbatchi, Litaty L; Evrard, Alexandre A; Quantin, Xavier X; Leenhardt, Fanny F

Publication Date: 2023-03-14

Variant appearance in text: KIT: W557R

PubMed Link: 36982592

Variant Present in the following documents:

• Main text
• ijms-24-05518.pdf

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Clinicopathological and mutational characteristics of primary double mutant gastrointestinal stromal tumor: a single center study with review of the literature.

Bmc Cancer

Yan, Jiaqi J; He, Xin X; Shen, Chaoyong C; Zou, Yan Y; Chen, Huijiao H; Tang, Yuan Y

Publication Date: 2023-03-08

Variant appearance in text: KIT: W557R

PubMed Link: 36890498

Variant Present in the following documents:

• Main text
• 12885_2023_Article_10684.pdf

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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: W557R

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
• 41467_2022_34746_MOESM20_ESM.xlsx, sheet 3
• 41467_2022_Article_34746.pdf

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Gastrointestinal Stromal Tumors Mimicking Gynecologic Disease: Clinicopathological Analysis of 20 Cases.

Diagnostics (Basel, Switzerland)

Liu, Ying Y; Shahi, Maryam M; Miller, Karin K; Meyer, Christian F CF; Hung, Chien-Fu CF; Wu, T-C TC; Vang, Russell R; Xing, Deyin D

Publication Date: 2022-06-27

Variant appearance in text: KIT: W557R

PubMed Link: 35885469

Variant Present in the following documents:

• diagnostics-12-01563.pdf

View BVdb publication page

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Familial gastrointestinal stromal tumors with KIT germline mutation in a Chinese family: A case report.

World Journal Of Clinical Cases

Yuan, Wei W; Huang, Wen W; Ren, Lei L; Xu, Chen C; Luan, Li-Juan LJ; Huang, Jie J; Xue, An-Wei AW; Fang, Yong Y; Gao, Xiao-Dong XD; Shen, Kun-Tang KT; Lv, Jing-Huan JH; Hou, Ying-Yong YY

Publication Date: 2022-05-26

Variant appearance in text: N/A

PubMed Link: 35801023

Variant Present in the following documents:

View BVdb publication page

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KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management.

The Oncologist

Brodey, Alexandra A; Kounnis, Valentinos V; Hawkes, Lara L; Jones, Robin L RL; McVeigh, Terri P TP; Cojocaru, Elena E

Publication Date: 2022-08-05

Variant appearance in text: KIT: 1669T>A

PubMed Link: 35791894

Variant Present in the following documents:

• Main text
• oyac120.pdf

View BVdb publication page

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Efficacy and safety of ripretinib in patients with KIT-altered metastatic melanoma.

Esmo Open

Janku, F F; Bauer, S S; Shoumariyeh, K K; Jones, R L RL; Spreafico, A A; Jennings, J J; Psoinos, C C; Meade, J J; Ruiz-Soto, R R; Chi, P P

Publication Date: 2022-08

Variant appearance in text: KIT: W557R

PubMed Link: 35753087

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine

Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC

Publication Date: 2022-06-16

Variant appearance in text: N/A

PubMed Link: 35706047

Variant Present in the following documents:

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: N/A

PubMed Link: 35705558

Variant Present in the following documents:

View BVdb publication page

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Mutated KIT Tyrosine Kinase as a Novel Molecular Target in Acute Myeloid Leukemia.

International Journal Of Molecular Sciences

Katagiri, Seiichiro S; Chi, SungGi S; Minami, Yosuke Y; Fukushima, Kentaro K; Shibayama, Hirohiko H; Hosono, Naoko N; Yamauchi, Takahiro T; Morishita, Takanobu T; Kondo, Takeshi T; Yanada, Masamitsu M; Yamamoto, Kazuhito K; Kuroda, Junya J; Usuki, Kensuke K; Akahane, Daigo D; Gotoh, Akihiko A

Publication Date: 2022-04-23

Variant appearance in text: CD117: W557R

PubMed Link: 35563085

Variant Present in the following documents:

• ijms-23-04694.pdf

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Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.

Frontiers In Genetics

Qian, Haoran H; Yan, Na N; Hu, Xiaotong X; Jiang, Junchang J; Cao, Zhengzheng Z; Shen, Dan D

Publication Date: 2022

Variant appearance in text: KIT: W557R

PubMed Link: 35547262

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

View BVdb publication page

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Integrative Genomic Profiling Uncovers Therapeutic Targets of Acral Melanoma in Asian Populations.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Shi, Qiong Q; Liu, Lin L; Chen, Jianru J; Zhang, Weigang W; Guo, Weinan W; Wang, Xiao X; Wang, Huina H; Guo, Sen S; Yue, Qiao Q; Ma, Jingjing J; Liu, Yu Y; Zhu, Guannan G; Zhao, Tao T; Zhao, Jianhong J; Liu, Ying Y; Gao, Tianwen T; Li, Chunying C

Publication Date: 2022-06-13

Variant appearance in text: KIT: W557R

PubMed Link: 35294533

Variant Present in the following documents:

• ccr-21-3344_supplementary_data_suppsd1.xlsx, sheet 7

View BVdb publication page

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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: N/A

PubMed Link: 35229492

Variant Present in the following documents:

View BVdb publication page

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Analysis of clinicopathologic features and gene mutations in gastrointestinal stromal tumor: a series of 58 patients.

International Journal Of Clinical And Experimental Pathology

Cheng, Hao H; Qiu, Tian T; Shi, Su-Sheng SS

Publication Date: 2021

Variant appearance in text: CD117: W557R

PubMed Link: 35027993

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Frontiers In Cell And Developmental Biology

Feng, Yuyang Y; Yao, Surui S; Pu, Zhening Z; Cheng, Han H; Fei, Bojian B; Zou, Jian J; Huang, Zhaohui Z

Publication Date: 2021

Variant appearance in text: KIT: W557R

PubMed Link: 34805171

Variant Present in the following documents:

• Main text
• fcell-09-764275.pdf

View BVdb publication page

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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: W557R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Not all KIT 557/558 codons mutations have the same prognostic influence on recurrence-free survival: breaking the exon 11 mutations in gastrointestinal stromal tumors (GISTs).

Therapeutic Advances In Medical Oncology

Incorvaia, Lorena L; Badalamenti, Giuseppe G; Fanale, Daniele D; Vincenzi, Bruno B; Luca, Ida De I; Algeri, Laura L; Barraco, Nadia N; Brando, Chiara C; Bonasera, Annalisa A; Bono, Marco M; Castiglia, Marta M; Cancelliere, Daniela D; Cani, Massimiliano M; Corsini, Lidia Rita LR; Fiorino, Alessia A; Galvano, Antonio A; Pedone, Erika E; Perez, Alessandro A; Pivetti, Alessia A; Graceffa, Giuseppa G; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V

Publication Date: 2021

Variant appearance in text: KIT: W557R

PubMed Link: 34616493

Variant Present in the following documents:

• Main text
• 10.1177_17588359211049779.pdf

View BVdb publication page

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Not all KIT 557/558 codons mutations have the same prognostic influence on recurrence-free survival: breaking the exon 11 mutations in gastrointestinal stromal tumors (GISTs).

Therapeutic Advances In Medical Oncology

Incorvaia, Lorena L; Badalamenti, Giuseppe G; Fanale, Daniele D; Vincenzi, Bruno B; Luca, Ida De I; Algeri, Laura L; Barraco, Nadia N; Brando, Chiara C; Bonasera, Annalisa A; Bono, Marco M; Castiglia, Marta M; Cancelliere, Daniela D; Cani, Massimiliano M; Rita Corsini, Lidia L; Fiorino, Alessia A; Galvano, Antonio A; Pedone, Erika E; Perez, Alessandro A; Pivetti, Alessia A; Graceffa, Giuseppa G; Pantuso, Gianni G; Cabibi, Daniela D; Russo, Antonio A; Bazan, Viviana V

Publication Date: 2021

Variant appearance in text: KIT: W557R

PubMed Link: 34616493

Variant Present in the following documents:

• Main text
• 10.1177_17588359211049779.pdf

View BVdb publication page

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Monitoring Circulating Tumor DNA During Surgical Treatment in Patients with Gastrointestinal Stromal Tumors.

Molecular Cancer Therapeutics

Johansson, Gustav G; Berndsen, Marta M; Lindskog, Stefan S; Österlund, Tobias T; Fagman, Henrik H; Muth, Andreas A; Ståhlberg, Anders A

Publication Date: 2021-12

Variant appearance in text: KIT: W557R

PubMed Link: 34552011

Variant Present in the following documents:

• Main text
• 2568.pdf

View BVdb publication page

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Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma.

Journal Of Personalized Medicine

Ilcus, Cristina C; Silaghi, Horatiu H; Georgescu, Carmen Emanuela CE; Georgiu, Carmen C; Ciurea, Anca Ileana AI; Nicoara, Simona Delia SD; Silaghi, Cristina Alina CA

Publication Date: 2021-07-14

Variant appearance in text: KIT: 1669T>A

PubMed Link: 34357128

Variant Present in the following documents:

• Main text
• jpm-11-00661.pdf

View BVdb publication page

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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: W557R

PubMed Link: 34350118

Variant Present in the following documents:

• Main text
• fonc-11-702287.pdf

View BVdb publication page

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Differential Expression of CADM1 in Gastrointestinal Stromal Tumors of Different Sites and with Different Gene Abnormalities.

Pathology Oncology Research : Por

Yuan, Jiayin J; Kihara, Takako T; Kimura, Neinei N; Hashikura, Yuka Y; Ohkouchi, Mizuka M; Isozaki, Koji K; Takahashi, Tsuyoshi T; Nishida, Toshirou T; Ito, Akihiko A; Hirota, Seiichi S

Publication Date: 2021

Variant appearance in text: KIT: Trp557Arg

PubMed Link: 34257559

Variant Present in the following documents:

• Main text
• pore-27-602008.pdf

View BVdb publication page

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Vulvar Melanoma: Molecular Characteristics, Diagnosis, Surgical Management, and Medical Treatment.

American Journal Of Clinical Dermatology

Wohlmuth, Christoph C; Wohlmuth-Wieser, Iris I

Publication Date: 2021-09

Variant appearance in text: KIT: W557R

PubMed Link: 34125416

Variant Present in the following documents:

• Main text
• 40257_2021_Article_614.pdf

View BVdb publication page

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Genetic alteration of Chinese patients with rectal mucosal melanoma.

Bmc Cancer

Li, Huan H; Yang, Lujing L; Lai, Yumei Y; Wang, Xintong X; Han, Xinyin X; Liu, Siyao S; Wang, Dongliang D; Li, Xiaojuan X; Hu, Nana N; Kong, Yan Y; Si, Lu L; Li, Zhongwu Z

Publication Date: 2021-05-27

Variant appearance in text: KIT: W557R

PubMed Link: 34044811

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of genetics in patients with mucosal melanoma treated with immune checkpoint blockade.

Cancer Medicine

Buchbinder, Elizabeth I EI; Weirather, Jason L JL; Manos, Michael M; Quattrochi, Brian J BJ; Sholl, Lynette M LM; Brennick, Ryan C RC; Bowling, Peter P; Bailey, Nancy N; Magarace, Lisa L; Ott, Patrick A PA; Haq, Rizwan R; Izar, Benjamin B; Giobbie-Hurder, Anita A; Hodi, F Stephen FS

Publication Date: 2021-04

Variant appearance in text: KIT: W557R

PubMed Link: 33724703

Variant Present in the following documents:

• Main text
• CAM4-10-2627.pdf

View BVdb publication page

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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: 1669T>A; W557R

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Update on Molecular Genetics of Gastrointestinal Stromal Tumors.

Diagnostics (Basel, Switzerland)

Brčić, Iva I; Argyropoulos, Alexandra A; Liegl-Atzwanger, Bernadette B

Publication Date: 2021-01-28

Variant appearance in text: N/A

PubMed Link: 33525726

Variant Present in the following documents:

View BVdb publication page

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Targeted Deep Sequencing Reveals Unrecognized KIT Mutation Coexistent with NF1 Deficiency in GISTs.

Cancer Management And Research

Wu, Jinchun J; Zhou, Haiyan H; Yi, Xiaoping X; He, Qiongzhi Q; Lei, Tianxiang T; Tan, Fengbo F; Liu, Heli H; Li, Bin B

Publication Date: 2021

Variant appearance in text: KIT: 1669T>A

PubMed Link: 33469372

Variant Present in the following documents:

• Main text
• cmar-13-297.pdf

View BVdb publication page

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The Prognostic Impact of Circulating Tumour DNA in Melanoma Patients Treated with Systemic Therapies-Beyond BRAF Mutant Detection.

Cancers

Marsavela, Gabriela G; Johansson, Peter A PA; Pereira, Michelle R MR; McEvoy, Ashleigh C AC; Reid, Anna L AL; Robinson, Cleo C; Warburton, Lydia L; Khattak, Muhammad A MA; Meniawy, Tarek M TM; Amanuel, Benhur B; Millward, Michael M; Hayward, Nicholas K NK; Ziman, Melanie R MR; Gray, Elin S ES; Calapre, Leslie L

Publication Date: 2020-12-16

Variant appearance in text: KIT: W557R

PubMed Link: 33339135

Variant Present in the following documents:

• cancers-12-03793-s001.pdf

View BVdb publication page

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A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare KIT Germline Mutation (N655K): Clinico-Pathological Presentation and TKI Sensitivity.

Journal Of Personalized Medicine

Fornasarig, Mara M; Gasparotto, Daniela D; Foltran, Luisa L; Campigotto, Michele M; Lombardi, Sara S; Del Savio, Elisa E; Buonadonna, Angela A; Puglisi, Fabio F; Sulfaro, Sandro S; Canzonieri, Vincenzo V; Cannizzaro, Renato R; Maestro, Roberta R

Publication Date: 2020-11-17

Variant appearance in text: KIT: W557R

PubMed Link: 33212994

Variant Present in the following documents:

• Main text
• jpm-10-00234.pdf

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: rs121913235

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: N/A

PubMed Link: 32958805

Variant Present in the following documents:

View BVdb publication page

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Mutation analysis of gastrointestinal stromal tumors using RNA obtained via endoscopic ultrasound-guided fine-needle aspiration.

Translational Oncology

Funasaka, Kohei K; Miyahara, Ryoji R; Furukawa, Kazuhiro K; Sawada, Tsunaki T; Maeda, Keiko K; Yamamura, Takeshi T; Ishikawa, Takuya T; Ohno, Eizaburo E; Nakamura, Masanao M; Kawashima, Hiroki H; Hirooka, Yoshiki Y; Ohmiya, Naoki N; Fujishiro, Mitsuhiro M

Publication Date: 2020-11

Variant appearance in text: KIT: W557R

PubMed Link: 32818739

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: KIT: 1669T>A; W557R

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: N/A

PubMed Link: 32732999

Variant Present in the following documents:

View BVdb publication page

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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: W557R

PubMed Link: 32608199

Variant Present in the following documents:

• Main text
• ymj-61-562.pdf

View BVdb publication page

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Clinicopathologic characteristics, diagnostic clues, and prognoses of patients with multiple sporadic gastrointestinal stromal tumors: a case series and review of the literature.

Diagnostic Pathology

Shen, Yan-Ying YY; Ma, Xin-Li XL; Yang, Lin-Xi LX; Zhao, Wen-Yi WY; Tu, Lin L; Zhuang, Chun C; Ni, Bo B; Liu, Qiang Q; Wang, Ming M; Cao, Hui H

Publication Date: 2020-05-14

Variant appearance in text: KIT: W557R

PubMed Link: 32408889

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted Deep Sequencing Uncovers Cryptic KIT Mutations in KIT/PDGFRA/SDH/RAS-P Wild-Type GIST.

Frontiers In Oncology

Astolfi, Annalisa A; Indio, Valentina V; Nannini, Margherita M; Saponara, Maristella M; Schipani, Angela A; De Leo, Antonio A; Altimari, Annalisa A; Vincenzi, Bruno B; Comandini, Danila D; Grignani, Giovanni G; Secchiero, Paola P; Urbini, Milena M; Pantaleo, Maria Abbondanza MA

Publication Date: 2020

Variant appearance in text: KIT: W557R

PubMed Link: 32391261

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: KIT: 1669T>A; W557R

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications

Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C

Publication Date: 2020-05-04

Variant appearance in text: N/A

PubMed Link: 32366847

Variant Present in the following documents:

View BVdb publication page

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Pre-analytical factors affecting the establishment of a single tube assay for multiparameter liquid biopsy detection in melanoma patients.

Molecular Oncology

Schneegans, Svenja S; Lück, Lelia L; Besler, Katharina K; Bluhm, Leonie L; Stadler, Julia-Christina JC; Staub, Janina J; Greinert, Rüdiger R; Volkmer, Beate B; Kubista, Mikael M; Gebhardt, Christoffer C; Sartori, Alexander A; Irwin, Darryl D; Serkkola, Elina E; Af Hällström, Taija T; Lianidou, Evi E; Sprenger-Haussels, Markus M; Hussong, Melanie M; Mohr, Peter P; Schneider, Stefan W SW; Shaffer, Jonathan J; Pantel, Klaus K; Wikman, Harriet H

Publication Date: 2020-05

Variant appearance in text: KIT: 1669T>A; W557R

PubMed Link: 32246814

Variant Present in the following documents:

• MOL2-14-1001-s004.xlsx, sheet 1

View BVdb publication page

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Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours.

International Journal Of Oncology

Bombac, Alenka A; Zakotnik, Branko B; Bucic, Marina M; Setrajcic Dragos, Vita V; Gazic, Barbara B; Stegel, Vida V; Klancar, Gasper G; Novakovic, Srdjan S

Publication Date: 2020-06

Variant appearance in text: KIT: 1669T>A; Trp557Arg

PubMed Link: 32236636

Variant Present in the following documents:

• Main text
• ijo-56-06-1468.pdf
• Supplementary_Data.pdf

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: W557R

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11
• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Cell & Bioscience

Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J

Publication Date: 2020

Variant appearance in text: KIT: W557R

PubMed Link: 32082541

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical value of next generation sequencing of plasma cell-free DNA in gastrointestinal stromal tumors.

Bmc Cancer

Serrano, César C; Vivancos, Ana A; López-Pousa, Antonio A; Matito, Judit J; Mancuso, Francesco M FM; Valverde, Claudia C; Quiroga, Sergi S; Landolfi, Stefania S; Castro, Sandra S; Dopazo, Cristina C; Sebio, Ana A; Virgili, Anna C AC; Menso, María M MM; Martín-Broto, Javier J; Sansó, Miriam M; García-Valverde, Alfonso A; Rosell, Jordi J; Fletcher, Jonathan A JA; George, Suzanne S; Carles, Joan J; Arribas, Joaquín J

Publication Date: 2020-02-05

Variant appearance in text: KIT: W557R

PubMed Link: 32024476

Variant Present in the following documents:

• Main text
• 12885_2020_Article_6597.pdf

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A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Scientific Reports

Ticha, Ivana I; Hojny, Jan J; Michalkova, Romana R; Kodet, Ondrej O; Krkavcova, Eva E; Hajkova, Nikola N; Nemejcova, Kristyna K; Bartu, Michaela M; Jaksa, Radek R; Dura, Miroslav M; Kanwal, Madiha M; Martinikova, Andra S AS; Macurek, Libor L; Zemankova, Petra P; Kleibl, Zdenek Z; Dundr, Pavel P

Publication Date: 2019-11-19

Variant appearance in text: KIT: W557R

PubMed Link: 31745173

Variant Present in the following documents:

• Main text

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