Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: KIT: S840N; rs766430859

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.

Cancers

El Hussein, Siba S; Chifotides, Helen T HT; Khoury, Joseph D JD; Verstovsek, Srdan S; Thakral, Beenu B

Publication Date: 2022-07-17

Variant appearance in text: KIT: S840N

PubMed Link: 35884535

Variant Present in the following documents:

• Main text
• cancers-14-03474.pdf

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: S840N

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s002.pdf

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Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.

Nature Communications

Sun, Hua H; Cao, Song S; Mashl, R Jay RJ; Mo, Chia-Kuei CK; Zaccaria, Simone S; Wendl, Michael C MC; Davies, Sherri R SR; Bailey, Matthew H MH; Primeau, Tina M TM; Hoog, Jeremy J; Mudd, Jacqueline L JL; Dean, Dennis A DA; Patidar, Rajesh R; Chen, Li L; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka G RG; Rodrigues, Fernanda Martins FM; Terekhanova, Nadezhda V NV; Li, Yize Y; Lim, Kian-Huat KH; Wang-Gillam, Andrea A; Van Tine, Brian A BA; Ma, Cynthia X CX; Aft, Rebecca R; Fuh, Katherine C KC; Schwarz, Julie K JK; Zevallos, Jose P JP; Puram, Sidharth V SV; Dipersio, John F JF; , ; Davis-Dusenbery, Brandi B; Ellis, Matthew J MJ; Lewis, Michael T MT; Davies, Michael A MA; Herlyn, Meenhard M; Fang, Bingliang B; Roth, Jack A JA; Welm, Alana L AL; Welm, Bryan E BE; Meric-Bernstam, Funda F; Chen, Feng F; Fields, Ryan C RC; Li, Shunqiang S; Govindan, Ramaswamy R; Doroshow, James H JH; Moscow, Jeffrey A JA; Evrard, Yvonne A YA; Chuang, Jeffrey H JH; Raphael, Benjamin J BJ; Ding, Li L

Publication Date: 2021-08-24

Variant appearance in text: KIT: S840N

PubMed Link: 34429404

Variant Present in the following documents:

• 41467_2021_25177_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: KIT: 2519G>A; S840N

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_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: KIT: S840N

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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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: 2519G>A; S840N

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.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: S840N

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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Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs).

Clinical Sarcoma Research

Heinrich, Michael C MC; Patterson, Janice J; Beadling, Carol C; Wang, Yuexiang Y; Debiec-Rychter, Maria M; Dewaele, Barbara B; Corless, Christopher L CL; Duensing, Anette A; Raut, Chandrajit P CP; Rubin, Brian B; Ordog, Tamas T; van de Rijn, Matt M; Call, Jerry J; Mühlenberg, Thomas T; Fletcher, Jonathan A JA; Bauer, Sebastian S

Publication Date: 2019

Variant appearance in text: KIT: 2519G>A; S840N

PubMed Link: 30867899

Variant Present in the following documents:

• 13569_2019_112_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Metastases risk in thin cutaneous melanoma: prognostic value of clinical-pathologic characteristics and mutation profile.

Oncotarget

Richetta, Antonio G AG; Valentini, Virginia V; Marraffa, Federica F; Paolino, Giovanni G; Rizzolo, Piera P; Silvestri, Valentina V; Zelli, Veronica V; Carbone, Anna A; Di Mattia, Cinzia C; Calvieri, Stefano S; Frascione, Pasquale P; Donati, Pietro P; Ottini, Laura L

Publication Date: 2018-08-14

Variant appearance in text: KIT: 2519G>A; Ser840Asn

PubMed Link: 30181807

Variant Present in the following documents:

• Main text
• oncotarget-09-32173.pdf

View BVdb publication page

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Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer

Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB

Publication Date: 2015-04-14

Variant appearance in text: KIT: 2519G>A; Ser840Asn

PubMed Link: 25742471

Variant Present in the following documents:

• bjc201580x7.xls, sheet 1

View BVdb publication page

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