Publications:

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Small Gastric Stromal Tumors: An Underestimated Risk.

Cancers

Guo, Jintao J; Ge, Qichao Q; Yang, Fan F; Wang, Sheng S; Ge, Nan N; Liu, Xiang X; Shi, Jing J; Fusaroli, Pietro P; Liu, Yang Y; Sun, Siyu S

Publication Date: 2022-12-06

Variant appearance in text: KIT: Val560Ala

PubMed Link: 36497489

Variant Present in the following documents:

• Main text
• cancers-14-06008.pdf

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: KIT: V560A

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: KIT: 1679T>C; Val560Ala

PubMed Link: 34797250

Variant Present in the following documents:

• ct9-12-e00431-s005.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: KIT: V560A

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Update on Molecular Genetics of Gastrointestinal Stromal Tumors.

Diagnostics (Basel, Switzerland)

Brčić, Iva I; Argyropoulos, Alexandra A; Liegl-Atzwanger, Bernadette B

Publication Date: 2021-01-28

Variant appearance in text: KIT: V560A

PubMed Link: 33525726

Variant Present in the following documents:

• Main text
• diagnostics-11-00194.pdf

View BVdb publication page

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A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare KIT Germline Mutation (N655K): Clinico-Pathological Presentation and TKI Sensitivity.

Journal Of Personalized Medicine

Fornasarig, Mara M; Gasparotto, Daniela D; Foltran, Luisa L; Campigotto, Michele M; Lombardi, Sara S; Del Savio, Elisa E; Buonadonna, Angela A; Puglisi, Fabio F; Sulfaro, Sandro S; Canzonieri, Vincenzo V; Cannizzaro, Renato R; Maestro, Roberta R

Publication Date: 2020-11-17

Variant appearance in text: KIT: V560A

PubMed Link: 33212994

Variant Present in the following documents:

• Main text
• jpm-10-00234.pdf

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs121913521

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_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: V560A

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KIT: 1679T>C; Val560Ala

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Mutations in the BRAF, NRAS, and C-KIT Genes of Patients Diagnosed with Melanoma in Colombia Population.

Biomed Research International

Gutiérrez-Castañeda, Luz D LD; Gamboa, Mauricio M; Nova, John A JA; Pulido, Leonardo L; Tovar-Parra, Jose D JD

Publication Date: 2020

Variant appearance in text: KIT: Val560Ala

PubMed Link: 32775409

Variant Present in the following documents:

• BMRI2020-2046947.pdf

View BVdb publication page

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Inhibition of FGF2-Mediated Signaling in GIST-Promising Approach for Overcoming Resistance to Imatinib.

Cancers

Boichuk, Sergei S; Galembikova, Aigul A; Mikheeva, Ekaterina E; Bikinieva, Firuza F; Aukhadieva, Aida A; Dunaev, Pavel P; Khalikov, Dinar D; Petrov, Semen S; Kurtasanov, Refat R; Valeeva, Elena E; Kireev, Igor I; Dugina, Vera V; Lushnikova, Anna A; Novikova, Maria M; Kopnin, Pavel P

Publication Date: 2020-06-24

Variant appearance in text: KIT: V560A

PubMed Link: 32599808

Variant Present in the following documents:

• cancers-12-01674-s001.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: KIT: V560A

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11

View BVdb publication page

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Clinical mutational profiling and categorization of BRAF mutations in melanomas using next generation sequencing.

Bmc Cancer

Lokhandwala, Parvez M PM; Tseng, Li-Hui LH; Rodriguez, Erika E; Zheng, Gang G; Pallavajjalla, Aparna A; Gocke, Christopher D CD; Eshleman, James R JR; Lin, Ming-Tseh MT

Publication Date: 2019-07-05

Variant appearance in text: KIT: V560A

PubMed Link: 31277584

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Comparison of Imatinib-Naïve and Resistant Gastrointestinal Stromal Tumors: Differentially Expressed microRNAs and mRNAs.

Cancers

Amirnasr, Azadeh A; Gits, Caroline M M CMM; van Kuijk, Patricia F PF; Smid, Marcel M; Vriends, Anne L M ALM; Rutkowski, Piotr P; Sciot, Raf R; Schöffski, Patrick P; Debiec-Rychter, Maria M; Sleijfer, Stefan S; Wiemer, Erik A C EAC

Publication Date: 2019-06-24

Variant appearance in text: KIT: V560A

PubMed Link: 31238586

Variant Present in the following documents:

• Main text
• cancers-11-00882.pdf

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: V560A

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
• 13073_2018_564_MOESM2_ESM.xlsx, sheet 17

View BVdb publication page

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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: V560A

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

View BVdb publication page

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Prevalence and detection of low-allele-fraction variants in clinical cancer samples.

Nature Communications

Shin, Hyun-Tae HT; Choi, Yoon-La YL; Yun, Jae Won JW; Kim, Nayoung K D NKD; Kim, Sook-Young SY; Jeon, Hyo Jeong HJ; Nam, Jae-Yong JY; Lee, Chung C; Ryu, Daeun D; Kim, Sang Cheol SC; Park, Kyunghee K; Lee, Eunjin E; Bae, Joon Seol JS; Son, Dae Soon DS; Joung, Je-Gun JG; Lee, Jeeyun J; Kim, Seung Tae ST; Ahn, Myung-Ju MJ; Lee, Se-Hoon SH; Ahn, Jin Seok JS; Lee, Woo Yong WY; Oh, Bo Young BY; Park, Yeon Hee YH; Lee, Jeong Eon JE; Lee, Kwang Hyuk KH; Kim, Hee Cheol HC; Kim, Kyoung-Mee KM; Im, Young-Hyuck YH; Park, Keunchil K; Park, Peter J PJ; Park, Woong-Yang WY

Publication Date: 2017-11-09

Variant appearance in text: KIT: V560A

PubMed Link: 29123093

Variant Present in the following documents:

• 41467_2017_1470_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular profiling of signet ring cell colorectal cancer provides a strong rationale for genomic targeted and immune checkpoint inhibitor therapies.

British Journal Of Cancer

Alvi, Muhammad A MA; Loughrey, Maurice B MB; Dunne, Philip P; McQuaid, Stephen S; Turkington, Richard R; Fuchs, Marc-Aurel MA; McGready, Claire C; Bingham, Victoria V; Pang, Brendan B; Moore, Wendy W; Maxwell, Perry P; Lawler, Mark M; James, Jacqueline A JA; Murray, Graeme I GI; Wilson, Richard H RH; Salto-Tellez, Manuel M

Publication Date: 2017-07-11

Variant appearance in text: rs121913521

PubMed Link: 28595259

Variant Present in the following documents:

• bjc2017168x11.xlsx, sheet 1

View BVdb publication page

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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: 1679T>C; V560A

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: KIT: V560A

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: KIT: V560A

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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