Publications:

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Hereditary variants of unknown significance in African American women with breast cancer.

Plos One

McDonald, J Tyson JT; Ricks-Santi, Luisel J LJ

Publication Date: 2022

Variant appearance in text: rs777414641

PubMed Link: 36315513

Variant Present in the following documents:

• pone.0273835.s001.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: ALK: 1414+1G>A

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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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: ALK: 1414+1G>A

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.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: ALK: 1414+1G>A

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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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: ALK: 1414+1G>A

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-5.xlsx, sheet 1

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: rs777414641

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 7

View BVdb publication page

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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

European Journal Of Human Genetics : Ejhg

Vogelaar, Ingrid P IP; van der Post, Rachel S RS; van Krieken, J Han Jm JHJ; Spruijt, Liesbeth L; van Zelst-Stams, Wendy Ag WA; Kets, C Marleen CM; Lubinski, Jan J; Jakubowska, Anna A; Teodorczyk, Urszula U; Aalfs, Cora M CM; van Hest, Liselotte P LP; Pinheiro, Hugo H; Oliveira, Carla C; Jhangiani, Shalini N SN; Muzny, Donna M DM; Gibbs, Richard A RA; Lupski, James R JR; de Ligt, Joep J; Vissers, Lisenka E L M LELM; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Goeman, Jelle J JJ; Schackert, Hans K HK; Ranzani, Guglielmina N GN; Molinaro, Valeria V; Gómez García, Encarna B EB; Hes, Frederik J FJ; Holinski-Feder, Elke E; Genuardi, Maurizio M; Ausems, Margreet G E M MGEM; Sijmons, Rolf H RH; Wagner, Anja A; van der Kolk, Lizet E LE; Bjørnevoll, Inga I; Høberg-Vetti, Hildegunn H; van Kessel, Ad Geurts AG; Kuiper, Roland P RP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N

Publication Date: 2017-11

Variant appearance in text: ALK: 1414+1G>A

PubMed Link: 28875981

Variant Present in the following documents:

• ejhg2017138x4.xlsx, sheet 1

View BVdb publication page

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Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One

He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM

Publication Date: 2016

Variant appearance in text: ALK: 1414+1G>A

PubMed Link: 27930734

Variant Present in the following documents:

• pone.0167847.s002.xls, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ALK: 1414+1G>A

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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