Publications:

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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: R634Q

PubMed Link: 35753087

Variant Present in the following documents:

• Main text
• main.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: R634Q

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer.

Npj Breast Cancer

Luo, Rui R; Chong, Weelic W; Wei, Qiang Q; Zhang, Zhenchao Z; Wang, Chun C; Ye, Zhong Z; Abu-Khalaf, Maysa M MM; Silver, Daniel P DP; Stapp, Robert T RT; Jiang, Wei W; Myers, Ronald E RE; Li, Bingshan B; Cristofanilli, Massimo M; Yang, Hushan H

Publication Date: 2021-06-01

Variant appearance in text: KIT: R634Q

PubMed Link: 34075047

Variant Present in the following documents:

• 41523_2021_278_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One

Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R

Publication Date: 2021

Variant appearance in text: KIT: R634Q

PubMed Link: 33556149

Variant Present in the following documents:

• pone.0246048.s008.xlsx, sheet 1

View BVdb publication page

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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: R634Q

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

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: KIT: R634Q

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: KIT: R634Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Landscape of drug-resistance mutations in kinase regulatory hotspots.

Briefings In Bioinformatics

Kim, Pora P; Li, Hanyang H; Wang, Junmei J; Zhao, Zhongming Z

Publication Date: 2021-05-20

Variant appearance in text: KIT: R634Q

PubMed Link: 32510566

Variant Present in the following documents:

• Main text

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: KIT: R634Q

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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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: R634Q

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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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: R634Q

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 13
• 13073_2018_564_MOESM2_ESM.xlsx, sheet 2
• 13073_2018_564_MOESM2_ESM.xlsx, sheet 19

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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: R634Q

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

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Mutational profiling of colorectal cancers with microsatellite instability.

Oncotarget

Lin, Elaine I EI; Tseng, Li-Hui LH; Gocke, Christopher D CD; Reil, Stacy S; Le, Dung T DT; Azad, Nilofer S NS; Eshleman, James R JR

Publication Date: 2015-12-08

Variant appearance in text: KIT: 1901G>A; R634Q

PubMed Link: 26517354

Variant Present in the following documents:

• Main text
• oncotarget-06-42334.pdf

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: R634Q

PubMed Link: 25695690

Variant Present in the following documents:

• Main text

View BVdb publication page

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