Publications:

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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: 1936T>G

PubMed Link: 36890498

Variant Present in the following documents:

• 12885_2023_Article_10684.pdf

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Rare c-KIT c.1926delA and c.1936T>G Mutations in Exon 13 Define Imatinib Resistance in Gastrointestinal Stromal Tumors and Melanoma Patients: Case Reports and Cell Experiments.

Frontiers In Molecular Biosciences

Yan, Chi C; Zhao, Chengzhi C; Yang, Ke K; Zhou, Hongyan H; Jing, Limin L; Zhao, Weixing W; Dou, Wenguang W; Xia, Qingxin Q; Ma, Jie J; Wei, Bing B; Guo, Yongjun Y

Publication Date: 2022

Variant appearance in text: CD117: 1936T>G

PubMed Link: 35720122

Variant Present in the following documents:

• Main text
• fmolb-09-730213.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: KIT: Y646D

PubMed Link: 35706047

Variant Present in the following documents:

• 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1

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: KIT: 1936T>G; Y646D

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 12
• PCMR-35-369-s003.xlsx, sheet 6

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Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.

Nature Communications

Newell, Felicity F; Wilmott, James S JS; Johansson, Peter A PA; Nones, Katia K; Addala, Venkateswar V; Mukhopadhyay, Pamela P; Broit, Natasa N; Amato, Carol M CM; Van Gulick, Robert R; Kazakoff, Stephen H SH; Patch, Ann-Marie AM; Koufariotis, Lambros T LT; Lakis, Vanessa V; Leonard, Conrad C; Wood, Scott S; Holmes, Oliver O; Xu, Qinying Q; Lewis, Karl K; Medina, Theresa T; Gonzalez, Rene R; Saw, Robyn P M RPM; Spillane, Andrew J AJ; Stretch, Jonathan R JR; Rawson, Robert V RV; Ferguson, Peter M PM; Dodds, Tristan J TJ; Thompson, John F JF; Long, Georgina V GV; Levesque, Mitchell P MP; Robinson, William A WA; Pearson, John V JV; Mann, Graham J GJ; Scolyer, Richard A RA; Waddell, Nicola N; Hayward, Nicholas K NK

Publication Date: 2020-10-16

Variant appearance in text: KIT: 1936T>G; Tyr646Asp

PubMed Link: 33067454

Variant Present in the following documents:

• 41467_2020_18988_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer

Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A

Publication Date: 2020-04-07

Variant appearance in text: KIT: 1936T>G; Tyr646Asp

PubMed Link: 32264863

Variant Present in the following documents:

• 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: Y646D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Phase II Study of Nilotinib in Melanoma Harboring KIT Alterations Following Progression to Prior KIT Inhibition.

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

Carvajal, Richard D RD; Lawrence, Donald P DP; Weber, Jeffrey S JS; Gajewski, Thomas F TF; Gonzalez, Rene R; Lutzky, Jose J; O'Day, Steven J SJ; Hamid, Omid O; Wolchok, Jedd D JD; Chapman, Paul B PB; Sullivan, Ryan J RJ; Teitcher, Jerrold B JB; Ramaiya, Nikhil N; Giobbie-Hurder, Anita A; Antonescu, Cristina R CR; Heinrich, Michael C MC; Bastian, Boris C BC; Corless, Christopher L CL; Fletcher, Jonathan A JA; Hodi, F Stephen FS

Publication Date: 2015-05-15

Variant appearance in text: KIT: Y646D

PubMed Link: 25695690

Variant Present in the following documents:

• Main text

View BVdb publication page

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