Publications:

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: KIT: S628N

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s006.xlsx, sheet 2
• PATH-259-56-s004.xlsx, sheet 2

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The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer

Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J

Publication Date: 2022-02

Variant appearance in text: KIT: Ser628Asn

PubMed Link: 35221333

Variant Present in the following documents:

• 43018_2022_332_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Resistance to Molecularly Targeted Therapies in Melanoma.

Cancers

Patel, Meet M; Eckburg, Adam A; Gantiwala, Shahina S; Hart, Zachary Z; Dein, Joshua J; Lam, Katie K; Puri, Neelu N

Publication Date: 2021-03-05

Variant appearance in text: KIT: S628N

PubMed Link: 33807778

Variant Present in the following documents:

• Main text
• cancers-13-01115.pdf

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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: S628N

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

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A Novel System for Functional Determination of Variants of Uncertain Significance using Deep Convolutional Neural Networks.

Scientific Reports

Zimmerman, Lior L; Zelichov, Ori O; Aizenmann, Arie A; Barbash, Zohar Z; Vidne, Michael M; Tarcic, Gabi G

Publication Date: 2020-03-06

Variant appearance in text: KIT: S628N

PubMed Link: 32144301

Variant Present in the following documents:

• 41598_2020_Article_61173.pdf

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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: S628N

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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Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.

Case Reports In Oncology

Orlova, Kristina V KV; Yanus, Grigory A GA; Aleksakhina, Svetlana N SN; Venina, Aigul R AR; Iyevleva, Aglaya G AG; Demidov, Lev V LV; Imyanitov, Evgeny N EN

Publication Date: 2019

Variant appearance in text: KIT: S628N

PubMed Link: 31043947

Variant Present in the following documents:

• cro-0012-0109-s01.pdf

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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: S628N

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

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: 1883G>A

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-5.xlsx, sheet 1

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Insight on Mutation-Induced Resistance from Molecular Dynamics Simulations of the Native and Mutated CSF-1R and KIT.

Plos One

Da Silva Figueiredo Celestino Gomes, Priscila P; Chauvot De Beauchêne, Isaure I; Panel, Nicolas N; Lopez, Sophie S; De Sepulveda, Paulo P; Geraldo Pascutti, Pedro P; Solary, Eric E; Tchertanov, Luba L

Publication Date: 2016

Variant appearance in text: KIT: S628N

PubMed Link: 27467080

Variant Present in the following documents:

• Main text
• pone.0160165.pdf

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