Publications:

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Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas.

Cancers

Szpechcinski, Adam A; Szolkowska, Malgorzata M; Winiarski, Sebastian S; Lechowicz, Urszula U; Wisniewski, Piotr P; Knetki-Wroblewska, Magdalena M

Publication Date: 2022-07-12

Variant appearance in text: KIT: Q575del

PubMed Link: 35884448

Variant Present in the following documents:

• Main text
• cancers-14-03388.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: Q575del

PubMed Link: 35547262

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 1

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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: 1722_1724del

PubMed Link: 35294533

Variant Present in the following documents:

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

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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: 1723_1725del; Asp575del

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 6

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: KIT: Q575del

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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: KIT: Q575del

PubMed Link: 32366847

Variant Present in the following documents:

• 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors.

Journal Of Gastric Cancer

Park, Joonhong J; Yoo, Han Mo HM; Sul, Hae Jung HJ; Shin, Soyoung S; Lee, Seung Woo SW; Kim, Jeong Goo JG

Publication Date: 2020-03

Variant appearance in text: KIT: 1724_1726del

PubMed Link: 32269842

Variant Present in the following documents:

• Main text

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: Gln575del

PubMed Link: 32236636

Variant Present in the following documents:

• Supplementary_Data.pdf

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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: Q575del

PubMed Link: 32091431

Variant Present in the following documents:

• ejcp-30-53-s001.pdf

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Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs.

Nature

Flavahan, William A WA; Drier, Yotam Y; Johnstone, Sarah E SE; Hemming, Matthew L ML; Tarjan, Daniel R DR; Hegazi, Esmat E; Shareef, Sarah J SJ; Javed, Nauman M NM; Raut, Chandrajit P CP; Eschle, Benjamin K BK; Gokhale, Prafulla C PC; Hornick, Jason L JL; Sicinska, Ewa T ET; Demetri, George D GD; Bernstein, Bradley E BE

Publication Date: 2019-11

Variant appearance in text: KIT: Q575del

PubMed Link: 31666694

Variant Present in the following documents:

• NIHMS1539624-supplement-Supplementary_Table_1.xlsx, sheet 1

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: KIT: Gln575del

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1722_1724delACA

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.xlsx, sheet 1
• NIHMS958974-supplement-5.xlsx, sheet 1

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Small, spontaneously ruptured gastrointestinal stromal tumor in the small intestine causing hemoperitoneum: A case report.

International Journal Of Surgery Case Reports

Fukuda, Shuichi S; Fujiwara, Yoshinori Y; Wakasa, Tomoko T; Inoue, Keisuke K; Kitani, Kotaro K; Ishikawa, Hajime H; Tsujie, Masanori M; Yukawa, Masao M; Ohta, Yoshio Y; Inoue, Masatoshi M

Publication Date: 2017

Variant appearance in text: KIT: Q575del

PubMed Link: 28549261

Variant Present in the following documents:

• Main text
• main.pdf

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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: 1723_1725delCAA; Q575del

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

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Correlation between mutational status and survival and second cancer risk assessment in patients with gastrointestinal stromal tumors: a population-based study.

World Journal Of Surgical Oncology

Rubió-Casadevall, Jordi J; Borràs, Joan Lluis JL; Carmona-García, Maria Carme MC; Ameijide, Alberto A; Gonzalez-Vidal, Allan A; Ortiz, Maria Rosa MR; Bosch, Ramon R; Riu, Francesc F; Parada, David D; Martí, Esther E; Miró, Josefina J; Sirvent, Juan Jose JJ; Galceran, Jaume J; Marcos-Gragera, Rafael R

Publication Date: 2015-02-13

Variant appearance in text: KIT: Q575del

PubMed Link: 25885906

Variant Present in the following documents:

• Main text
• 12957_2015_Article_474.pdf

View BVdb publication page

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