Publications:

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Identification and in silico analysis of noval alteration Arg420Gly in KIT proto oncogene among acute myeloid leukemia patients.

Scientific Reports

Akram, Afia Muhammad AM; Hassan, Mubashir M; Chaudhary, Asma A; Hayat, Sikandar S; Ali, Qurban Q; Hussain, Taha T; Zafar, Amjad A; Javed, Muhammad Arshad MA

Publication Date: 2022-11-10

Variant appearance in text: KIT: G565V

PubMed Link: 36357474

Variant Present in the following documents:

• 41598_2022_Article_23934.pdf

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NBN pathogenic germline variants are associated with pan-cancer susceptibility and in vitro DNA damage response defects.

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

Belhadj, Sami S; Khurram, Aliya A; Bandlamudi, Chaitanya C; Palou-Márquez, Guillermo G; Ravichandran, Vignesh V; Steinsnyder, Zoe Z; Wildman, Temima T; Catchings, Amanda A; Kemel, Yelena Y; Mukherjee, Semanti S; Fesko, Benjamin B; Arora, Kanika K; Mehine, Miika M; Dandiker, Sita S; Izhar, Aalin A; Petrini, John J; Domchek, Susan S; Nathanson, Katherine L KL; Brower, Jamie J; Couch, Fergus F; Stadler, Zsofia Z; Robson, Mark M; Walsh, Michael M; Vijai, Joseph J; Berger, Michael M; Supek, Fran F; Karam, Rachid R; Topka, Sabine S; Offit, Kenneth K

Publication Date: 2022-11-08

Variant appearance in text: KIT: G565V

PubMed Link: 36346689

Variant Present in the following documents:

• ccr-22-1703_supplementary_tables_s1-s11_suppts1-ts11.xlsx, sheet 5

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Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis.

Frontiers In Oncology

Kyrochristos, Ioannis D ID; Glantzounis, Georgios K GK; Goussia, Anna A; Eliades, Alexia A; Achilleos, Achilleas A; Tsangaras, Kyriakos K; Hadjidemetriou, Irene I; Elpidorou, Marilena M; Ioannides, Marios M; Koumbaris, George G; Mitsis, Michail M; Patsalis, Philippos C PC; Roukos, Dimitrios D

Publication Date: 2022

Variant appearance in text: KIT: 1694G>T; Gly565Val

PubMed Link: 35402285

Variant Present in the following documents:

• Table_1.xlsx, sheet 1
• Table_1.xlsx, sheet 2
• Table_1.xlsx, sheet 6

View BVdb publication page

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Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Genome Medicine

Shin, GiWon G; Greer, Stephanie U SU; Hopmans, Erik E; Grimes, Susan M SM; Lee, HoJoon H; Zhao, Lan L; Miotke, Laura L; Suarez, Carlos C; Almeda, Alison F AF; Haraldsdottir, Sigurdis S; Ji, Hanlee P HP

Publication Date: 2021-09-06

Variant appearance in text: KIT: G565V; rs200945282

PubMed Link: 34488871

Variant Present in the following documents:

• 13073_2021_958_MOESM2_ESM.xlsx, sheet 15

View BVdb publication page

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The genomics and epigenetics of olfactory neuroblastoma: A systematic review.

Laryngoscope Investigative Otolaryngology

Kaur, Raman Preet RP; Izumchenko, Evgeny E; Blakaj, Dukagjin M DM; Mladkova, Nikol N; Lechner, Matt M; Beaumont, Thomas L TL; Floudas, Charalampos S CS; Gallia, Gary L GL; London, Nyall R NR

Publication Date: 2021-08

Variant appearance in text: KIT: G565V

PubMed Link: 34401496

Variant Present in the following documents:

• Main text
• LIO2-6-721.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: rs200945282

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: G565V

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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Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Plos One

Liu, Jie J; Zhao, Weiwei W; Ou, Xiaohua X; Zhao, Zhen Z; Hu, Changming C; Sun, Mingming M; Liu, Feifei F; Deng, Junhao J; Gu, Weili W; An, Jiaying J; Zhang, Qingling Q; Zhang, Xiaoxian X; Xie, Jiaxing J; Li, Shiyue S; Chen, Rongchang R; Yu, Shihui S; Zhong, Nanshan N

Publication Date: 2019

Variant appearance in text: KIT: 1694G>T; Gly565Val; rs200945282

PubMed Link: 31856217

Variant Present in the following documents:

• pone.0226400.s012.xlsx, sheet 1
• pone.0226400.s010.xlsx, sheet 1
• pone.0226400.s004.xlsx, sheet 8
• pone.0226400.s004.xlsx, sheet 6

View BVdb publication page

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: KIT: 1694G>T; Gly565Val

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 3

View BVdb publication page

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Comprehensive molecular profiling of advanced/metastatic olfactory neuroblastomas.

Plos One

Topcagic, Jasmina J; Feldman, Rebecca R; Ghazalpour, Anatole A; Swensen, Jeffrey J; Gatalica, Zoran Z; Vranic, Semir S

Publication Date: 2018

Variant appearance in text: KIT: G565V

PubMed Link: 29324814

Variant Present in the following documents:

• Main text
• pone.0191244.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs200945282

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine

Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F

Publication Date: 2017-10-30

Variant appearance in text: KIT: 1694G>T; G565V

PubMed Link: 29082853

Variant Present in the following documents:

• 13073_2017_478_MOESM1_ESM.xlsx, sheet 2

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: rs200945282

PubMed Link: 28595259

Variant Present in the following documents:

• bjc2017168x11.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KIT: 1694G>T; Gly565Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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StrandAdvantage test for early-line and advanced-stage treatment decisions in solid tumors.

Cancer Medicine

Sen, Manimala M; Katragadda, Shanmukh S; Ravichandran, Aarthi A; Deshpande, Gouri G; Parulekar, Minothi M; Nayanala, Swetha S; Vittal, Vikram V; Shen, Weiming W; Phooi Nee Yong, Melanie M; Jacob, Jemima J; Parchuru, Sravanthi S; Dhanuskodi, Kalpana K; Eyring, Kenneth K; Agrawal, Pooja P; Agarwal, Smita S; Shanmugam, Ashwini A; Gupta, Satish S; Vishwanath, Divya D; Kumari, Kiran K; Hariharan, Arun K AK; Balaji, Sai A SA; Liang, Qiaoling Q; Robolledo, Belen B; Gauribidanur Raghavendrachar, Vijayashree V; Oomer Farooque, Mohammed M; Buresh, Cary J CJ; Ramamoorthy, Preveen P; Bahadur, Urvashi U; Subramanian, Kalyanasundaram K; Hariharan, Ramesh R; Veeramachaneni, Vamsi V; Sankaran, Satish S; Gupta, Vaijayanti V

Publication Date: 2017-05

Variant appearance in text: KIT: Gly565Val

PubMed Link: 28371134

Variant Present in the following documents:

• CAM4-6-883-s002.xlsx, sheet 5
• CAM4-6-883-s002.xlsx, sheet 21

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GIST Manifesting as a Retroperitoneal Tumor: Clinicopathologic Immunohistochemical, and Molecular Genetic Study of 112 Cases.

The American Journal Of Surgical Pathology

Miettinen, Markku M; Felisiak-Golabek, Anna A; Wang, Zengfeng Z; Inaguma, Shingo S; Lasota, Jerzy J

Publication Date: 2017-05

Variant appearance in text: KIT: Gly565Val

PubMed Link: 28288036

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combined KIT and CTLA-4 Blockade in Patients with Refractory GIST and Other Advanced Sarcomas: A Phase Ib Study of Dasatinib plus Ipilimumab.

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

D'Angelo, Sandra P SP; Shoushtari, Alexander N AN; Keohan, Mary Louise ML; Dickson, Mark A MA; Gounder, Mrinal M MM; Chi, Ping P; Loo, Jennifer K JK; Gaffney, Leigh L; Schneider, Lee L; Patel, Zarine Z; Erinjeri, Joseph Patrick JP; Bluth, Mark J MJ; Sjoberg, Ana A; Streicher, Howard H; Takebe, Naoko N; Qin, Li-Xuan LX; Antonescu, Cristina C; DeMatteo, Ronald P RP; Carvajal, Richard D RD; Tap, William D WD

Publication Date: 2017-06-15

Variant appearance in text: KIT: G565V

PubMed Link: 28007774

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging

Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,

Publication Date: 2016-12

Variant appearance in text: KIT: G565V

PubMed Link: 27640074

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: KIT: G565V

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: KIT: G565V; rs200945282

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 11

View BVdb publication page

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CRAF inhibition induces apoptosis in melanoma cells with non-V600E BRAF mutations.

Oncogene

Smalley, K S M KS; Xiao, M M; Villanueva, J J; Nguyen, T K TK; Flaherty, K T KT; Letrero, R R; Van Belle, P P; Elder, D E DE; Wang, Y Y; Nathanson, K L KL; Herlyn, M M

Publication Date: 2009-01-08

Variant appearance in text: KIT: G565V

PubMed Link: 18794803

Variant Present in the following documents:

• Main text

View BVdb publication page

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