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: R49C; rs759250095

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: KIT: R49C

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
• 41467_2022_34746_MOESM20_ESM.xlsx, sheet 3

View BVdb publication page

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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: KIT: 145C>T; R49C

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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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: R49C

PubMed Link: 36219477

Variant Present in the following documents:

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

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: KIT: R49C

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Retrospective analysis of somatic mutations and clonal hematopoiesis in astronauts.

Communications Biology

Brojakowska, Agnieszka A; Kour, Anupreet A; Thel, Mark Charles MC; Park, Eunbee E; Bisserier, Malik M; Garikipati, Venkata Naga Srikanth VNS; Hadri, Lahouaria L; Mills, Paul J PJ; Walsh, Kenneth K; Goukassian, David A DA

Publication Date: 2022-08-17

Variant appearance in text: KIT: 145C>T; Arg49Cys

PubMed Link: 35978153

Variant Present in the following documents:

• 42003_2022_3777_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers

González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC

Publication Date: 2022-05-18

Variant appearance in text: KIT: R49C

PubMed Link: 35626091

Variant Present in the following documents:

• cancers-14-02487.pdf

View BVdb publication page

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Epigenetic priming in chronic liver disease impacts the transcriptional and genetic landscapes of hepatocellular carcinoma.

Molecular Oncology

Gallon, John J; Coto-Llerena, Mairene M; Ercan, Caner C; Bianco, Gaia G; Paradiso, Viola V; Nuciforo, Sandro S; Taha-Melitz, Stephanie S; Meier, Marie-Anne MA; Boldanova, Tujana T; Pérez-Del-Pulgar, Sofía S; Rodríguez-Tajes, Sergio S; von Flüe, Markus M; Soysal, Savas D SD; Kollmar, Otto O; Llovet, Josep M JM; Villanueva, Augusto A; Terracciano, Luigi M LM; Heim, Markus H MH; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S

Publication Date: 2022-02

Variant appearance in text: KIT: 145C>T; Arg49Cys

PubMed Link: 34863035

Variant Present in the following documents:

• MOL2-16-665-s001.xlsx, sheet 5

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: KIT: 145C>T; R49C

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: KIT: 145C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: KIT: 145C>T; R49C

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: KIT: 145C>T; R49C

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

Scientific Reports

de Unamuno Bustos, Blanca B; Murria Estal, Rosa R; Pérez Simó, Gema G; de Juan Jimenez, Inmaculada I; Escutia Muñoz, Begoña B; Rodríguez Serna, Mercedes M; Alegre de Miquel, Victor V; Llavador Ros, Margarita M; Ballester Sánchez, Rosa R; Nagore Enguídanos, Eduardo E; Palanca Suela, Sarai S; Botella Estrada, Rafael R

Publication Date: 2017-03-29

Variant appearance in text: KIT: 145C>T; Arg49Cys

PubMed Link: 28356599

Variant Present in the following documents:

• 41598_2017_606_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: KIT: 145C>T; R49C

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

View BVdb publication page

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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: 145C>T; R49C

PubMed Link: 26517354

Variant Present in the following documents:

• Main text
• oncotarget-06-42334.pdf

View BVdb publication page

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Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing.

Genome Biology

Harismendy, Olivier O; Schwab, Richard B RB; Bao, Lei L; Olson, Jeff J; Rozenzhak, Sophie S; Kotsopoulos, Steve K SK; Pond, Stephanie S; Crain, Brian B; Chee, Mark S MS; Messer, Karen K; Link, Darren R DR; Frazer, Kelly A KA

Publication Date: 2011-12-20

Variant appearance in text: KIT: R49C

PubMed Link: 22185227

Variant Present in the following documents:

• Main text
• gb-2011-12-12-r124.pdf

View BVdb publication page

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