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: ERBB2: R432W; rs367606199

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Identifying Actionable Variants Using Capture-Based Targeted Sequencing in 563 Patients With Non-Small Cell Lung Carcinoma.

Frontiers In Oncology

Jiang, Haiping H; Wang, Yinan Y; Xu, Hanlin H; Lei, Wei W; Yu, Xiaoyun X; Tian, Haiying H; Meng, Cong C; Wang, Xueying X; Zhao, Zicheng Z; Jin, Xiangfeng X

Publication Date: 2021

Variant appearance in text: ERBB2: R432W; rs367606199

PubMed Link: 35186718

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Oral Squamous Cell Carcinoma in Young Patients Show Higher Rates of EGFR Amplification: Implications for Novel Personalized Therapy.

Frontiers In Oncology

Satgunaseelan, Laveniya L; Porazinski, Sean S; Strbenac, Dario D; Istadi, Aji A; Willet, Cali C; Chew, Tracy T; Sadsad, Rosemarie R; Palme, Carsten E CE; Lee, Jenny H JH; Boyer, Michael M; Yang, Jean Y H JYH; Clark, Jonathan R JR; Pajic, Marina M; Gupta, Ruta R

Publication Date: 2021

Variant appearance in text: ERBB2: R432W

PubMed Link: 34912708

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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DEVOLUTION-A method for phylogenetic reconstruction of aneuploid cancers based on multiregional genotyping data.

Communications Biology

Andersson, Natalie N; Chattopadhyay, Subhayan S; Valind, Anders A; Karlsson, Jenny J; Gisselsson, David D

Publication Date: 2021-09-20

Variant appearance in text: ERBB2: R432W

PubMed Link: 34545199

Variant Present in the following documents:

• 42003_2021_2637_MOESM2_ESM.pdf

View BVdb publication page

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HER Tyrosine Kinase Family and Rhabdomyosarcoma: Role in Onset and Targeted Therapy.

Cells

De Giovanni, Carla C; Landuzzi, Lorena L; Palladini, Arianna A; Nicoletti, Giordano G; Nanni, Patrizia P; Lollini, Pier-Luigi PL

Publication Date: 2021-07-16

Variant appearance in text: HER2: R432W

PubMed Link: 34359977

Variant Present in the following documents:

• Main text
• cells-10-01808.pdf

View BVdb publication page

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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: ERBB2: 1294C>T; R432W

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

British Journal Of Cancer

Rohan, Thomas E TE; Miller, Christopher A CA; Li, Tiandao T; Wang, Yihong Y; Loudig, Olivier O; Ginsberg, Mindy M; Glass, Andrew A; Mardis, Elaine E

Publication Date: 2018-06

Variant appearance in text: ERBB2: R432W

PubMed Link: 29872146

Variant Present in the following documents:

• 41416_2018_89_MOESM2_ESM.xls, sheet 1

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: rs367606199

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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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: ERBB2: 1294C>T; R432W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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