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: P523S; rs202202058

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetic profiling of human bone marrow mesenchymal stromal cells after in vitro expansion in clinical grade human platelet lysate.

Frontiers In Bioengineering And Biotechnology

De Becker, Ann A; Heestermans, Robbe R; De Brouwer, Wouter W; Bockstaele, Kara K; Maes, Ken K; Van Riet, Ivan I

Publication Date: 2022

Variant appearance in text: ERBB2: 1567C>T; Pro523Ser

PubMed Link: 36324892

Variant Present in the following documents:

• fbioe-10-1008271.pdf

View BVdb publication page

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Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.

Genome Medicine

Shin, GiWon G; Greer, Stephanie U SU; Hopmans, Erik E; Grimes, Susan M SM; Lee, HoJoon H; Zhao, Lan L; Miotke, Laura L; Suarez, Carlos C; Almeda, Alison F AF; Haraldsdottir, Sigurdis S; Ji, Hanlee P HP

Publication Date: 2021-09-06

Variant appearance in text: ERBB2: P523S; rs202202058

PubMed Link: 34488871

Variant Present in the following documents:

• 13073_2021_958_MOESM2_ESM.xlsx, sheet 15

View BVdb publication page

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Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.

Nature Communications

Sun, Hua H; Cao, Song S; Mashl, R Jay RJ; Mo, Chia-Kuei CK; Zaccaria, Simone S; Wendl, Michael C MC; Davies, Sherri R SR; Bailey, Matthew H MH; Primeau, Tina M TM; Hoog, Jeremy J; Mudd, Jacqueline L JL; Dean, Dennis A DA; Patidar, Rajesh R; Chen, Li L; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka G RG; Rodrigues, Fernanda Martins FM; Terekhanova, Nadezhda V NV; Li, Yize Y; Lim, Kian-Huat KH; Wang-Gillam, Andrea A; Van Tine, Brian A BA; Ma, Cynthia X CX; Aft, Rebecca R; Fuh, Katherine C KC; Schwarz, Julie K JK; Zevallos, Jose P JP; Puram, Sidharth V SV; Dipersio, John F JF; , ; Davis-Dusenbery, Brandi B; Ellis, Matthew J MJ; Lewis, Michael T MT; Davies, Michael A MA; Herlyn, Meenhard M; Fang, Bingliang B; Roth, Jack A JA; Welm, Alana L AL; Welm, Bryan E BE; Meric-Bernstam, Funda F; Chen, Feng F; Fields, Ryan C RC; Li, Shunqiang S; Govindan, Ramaswamy R; Doroshow, James H JH; Moscow, Jeffrey A JA; Evrard, Yvonne A YA; Chuang, Jeffrey H JH; Raphael, Benjamin J BJ; Ding, Li L

Publication Date: 2021-08-24

Variant appearance in text: ERBB2: P523S

PubMed Link: 34429404

Variant Present in the following documents:

• 41467_2021_25177_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: ERBB2: P523S

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: ERBB2: P523S; rs202202058

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic Mutations in HER2 and Implications for Current Treatment Paradigms in HER2-Positive Breast Cancer.

Journal Of Oncology

Gaibar, Maria M; Beltrán, Laura L; Romero-Lorca, Alicia A; Fernández-Santander, Ana A; Novillo, Apolonia A

Publication Date: 2020

Variant appearance in text: HER2: P523S

PubMed Link: 32256585

Variant Present in the following documents:

• Main text
• JO2020-6375956.pdf

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: ERBB2: P523S

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: ERBB2: P523S

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 2

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: ERBB2: P523S

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_Article_5914.pdf
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 5
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 6
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 8

View BVdb publication page

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