Publications:

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: KDR: R842C

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Cancer carrier screening in the general population using whole-genome sequencing.

Cancer Medicine

Chang, Ya-Sian YS; Chao, Dy-San DS; Chung, Chin-Chun CC; Chou, Yu-Pao YP; Chang, Chieh-Min CM; Lin, Chia-Li CL; Chu, Hou-Wei HW; Chen, Hon-Da HD; Liu, Ting-Yuan TY; Juan, Yu-Hsuan YH; Chang, Shun-Jen SJ; Chang, Jan-Gowth JG

Publication Date: 2022-07-21

Variant appearance in text: KDR: Arg842Cys; rs41469552

PubMed Link: 35861108

Variant Present in the following documents:

• CAM4-12-1972-s007.xlsx, sheet 1

View BVdb publication page

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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

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

Škorić-Milosavljević, Doris D; Lahrouchi, Najim N; Bosada, Fernanda M FM; Dombrowsky, Gregor G; Williams, Simon G SG; Lesurf, Robert R; Tjong, Fleur V Y FVY; Walsh, Roddy R; El Bouchikhi, Ihssane I; Breckpot, Jeroen J; Audain, Enrique E; Ilgun, Aho A; Beekman, Leander L; Ratbi, Ilham I; Strong, Alanna A; Muenke, Maximilian M; Heide, Solveig S; Muir, Alison M AM; Hababa, Mariam M; Cross, Laura L; Zhou, Dihong D; Pastinen, Tomi T; , ; Zackai, Elaine E; Atmani, Samir S; Ouldim, Karim K; Adadi, Najlae N; Steindl, Katharina K; Rauch, Anita A; Brook, David D; Wilsdon, Anna A; Kuipers, Irene I; Blom, Nico A NA; Mulder, Barbara J BJ; Mefford, Heather C HC; Keren, Boris B; Joset, Pascal P; Kruszka, Paul P; Thiffault, Isabelle I; Sheppard, Sarah E SE; Roberts, Amy A; Lodder, Elisabeth M EM; Keavney, Bernard D BD; Clur, Sally-Ann B SB; Mital, Seema S; Hitz, Marc-Philip MP; Christoffels, Vincent M VM; Postma, Alex V AV; Bezzina, Connie R CR

Publication Date: 2021-10

Variant appearance in text: KDR: R842C

PubMed Link: 34113005

Variant Present in the following documents:

• 41436_2021_1212_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: KDR: 2524C>T; R842C

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer

Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ

Publication Date: 2020-02

Variant appearance in text: KDR: 2524C>T; R842C

PubMed Link: 31857723

Variant Present in the following documents:

• 41416_2019_686_MOESM1_ESM.xlsx, sheet 14

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: KDR: R842C

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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