Publications:

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: EGFR: A611T

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 4

View BVdb publication page

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S6K1 amplification confers innate resistance to CDK4/6 inhibitors through activating c-Myc pathway in patients with estrogen receptor-positive breast cancer.

Molecular Cancer

Mo, Hongnan H; Liu, Xuefeng X; Xue, Yu Y; Chen, Hongyan H; Guo, Shichao S; Li, Zhangfu Z; Wang, Shuang S; Li, Caiming C; Han, Jiashu J; Fu, Ming M; Song, Yongmei Y; Li, Dan D; Ma, Fei F

Publication Date: 2022-08-30

Variant appearance in text: EGFR: 1831G>A; A611T

PubMed Link: 36042494

Variant Present in the following documents:

• 12943_2022_1642_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: rs201061916

PubMed Link: 35665681

Variant Present in the following documents:

• mmc24.xlsx, sheet 1

View BVdb publication page

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: EGFR: 1831G>A; A611T

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics

Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M

Publication Date: 2021-11-21

Variant appearance in text: EGFR: A611T; rs201061916

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 2

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: EGFR: 1831G>A; A611T

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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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: EGFR: 1831G>A; A611T

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: EGFR: 1831G>A; A611T

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: EGFR: Ala611Thr

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Liquid biopsy-based comprehensive gene mutation profiling for gynecological cancer using CAncer Personalized Profiling by deep Sequencing.

Scientific Reports

Iwahashi, Naoyuki N; Sakai, Kazuko K; Noguchi, Tomoko T; Yahata, Tamaki T; Matsukawa, Hitomi H; Toujima, Saori S; Nishio, Kazuto K; Ino, Kazuhiko K

Publication Date: 2019-07-18

Variant appearance in text: EGFR: A611T

PubMed Link: 31320709

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gliosarcoma: distinct molecular pathways and genomic alterations identified by DNA copy number/SNP microarray analysis.

Journal Of Neuro-Oncology

Lowder, Lindsey L; Hauenstein, Jennifer J; Woods, Ashley A; Chen, Hsiao-Rong HR; Rupji, Manali M; Kowalski, Jeanne J; Olson, Jeffrey J JJ; Saxe, Debra D; Schniederjan, Matthew M; Neill, Stewart S; Weinberg, Brent B; Sengupta, Soma S

Publication Date: 2019-07

Variant appearance in text: EGFR: 1831G>A

PubMed Link: 31073965

Variant Present in the following documents:

• Main text
• 11060_2019_Article_3184.pdf

View BVdb publication page

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: EGFR: A611T

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: EGFR: A611T; rs201061916

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: EGFR: 1831G>A; Ala611Thr

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-3.xlsx, sheet 1

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: rs201061916

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table7.xlsx, sheet 1

View BVdb publication page

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Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.

Oncotarget

Margolskee, Elizabeth E; Jobanputra, Vaidehi V; Jain, Preti P; Chen, Jinli J; Ganapathi, Karthik K; Nahum, Odelia O; Levy, Brynn B; Morscio, Julie J; Murty, Vundavalli V; Tousseyn, Thomas T; Alobeid, Bachir B; Mansukhani, Mahesh M; Bhagat, Govind G

Publication Date: 2016-06-21

Variant appearance in text: EGFR: A611T

PubMed Link: 27203213

Variant Present in the following documents:

• oncotarget-07-37636-s002.xlsx, sheet 1

View BVdb publication page

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Primary and secondary gliosarcomas: clinical, molecular and survival characteristics.

Journal Of Neuro-Oncology

Cachia, David D; Kamiya-Matsuoka, Carlos C; Mandel, Jacob J JJ; Olar, Adriana A; Cykowski, Matthew D MD; Armstrong, Terri S TS; Fuller, Gregory N GN; Gilbert, Mark R MR; De Groot, John F JF

Publication Date: 2015-11

Variant appearance in text: EGFR: 1831G>A

PubMed Link: 26354773

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

Cancer Medicine

Muller, Etienne E; Brault, Baptiste B; Holmes, Allyson A; Legros, Angelina A; Jeannot, Emmanuelle E; Campitelli, Maura M; Rousselin, Antoine A; Goardon, Nicolas N; Frébourg, Thierry T; Krieger, Sophie S; Crouet, Hubert H; Nicolas, Alain A; Sastre, Xavier X; Vaur, Dominique D; Castéra, Laurent L

Publication Date: 2015-10

Variant appearance in text: EGFR: 1831G>A; Ala611Thr; rs201061916

PubMed Link: 26155992

Variant Present in the following documents:

• cam40004-1484-sd2.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: EGFR: A611T

PubMed Link: 25032700

Variant Present in the following documents:

• Main text

View BVdb publication page

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