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: R157W; rs781137961

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: ERBB2: 469C>T; R157W

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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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: ERBB2: R157W

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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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: ERBB2: 469C>T; R157W

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Case Report: Significant Efficacy of Pyrotinib in the Treatment of Extensive Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer Cutaneous Metastases: A Report of Five Cases.

Frontiers In Oncology

Wang, Nan N; Li, Lin L; Xiong, Youyi Y; Chi, Jiangrui J; Liu, Xinwei X; Zhong, Chaochao C; Wang, Fang F; Gu, Yuanting Y

Publication Date: 2021

Variant appearance in text: HER2: R157W

PubMed Link: 34976791

Variant Present in the following documents:

• fonc-11-729212.pdf

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Characterization of Non-Small-Cell Lung Cancers With MET Exon 14 Skipping Alterations Detected in Tissue or Liquid: Clinicogenomics and Real-World Treatment Patterns.

Jco Precision Oncology

Lee, Jessica K JK; Madison, Russell R; Classon, Anthony A; Gjoerup, Ole O; Rosenzweig, Mark M; Frampton, Garrett M GM; Alexander, Brian M BM; Oxnard, Geoffrey R GR; Venstrom, Jeffrey M JM; Awad, Mark M MM; Schrock, Alexa B AB

Publication Date: 2021

Variant appearance in text: ERBB2: R157W

PubMed Link: 34476332

Variant Present in the following documents:

• po-5-po.21.00122.pdf

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Partial Response to Pyrotinib Plus Capecitabine in an Advanced Breast Cancer Patient with HER2 Amplification and R157W Mutation After Anti-HER2 Treatment: A Case Report and Literature Review.

Oncotargets And Therapy

Qu, Yanchun Y; Liu, Yufeng Y; Ding, Kailin K; Li, Yong Y; Hong, Xiaoyu X; Zhang, Haibo H

Publication Date: 2021

Variant appearance in text: HER2: R157W

PubMed Link: 33688205

Variant Present in the following documents:

• Main text
• ott-14-1581.pdf

View BVdb publication page

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Longitudinal therapy monitoring of ALK-positive lung cancer by combined copy number and targeted mutation profiling of cell-free DNA.

Ebiomedicine

Dietz, Steffen S; Christopoulos, Petros P; Yuan, Zhao Z; Angeles, Arlou Kristina AK; Gu, Lisa L; Volckmar, Anna-Lena AL; Ogrodnik, Simon J SJ; Janke, Florian F; Fratte, Chiara Dalle CD; Zemojtel, Tomasz T; Schneider, Marc A MA; Kazdal, Daniel D; Endris, Volker V; Meister, Michael M; Muley, Thomas T; Cecchin, Erika E; Reck, Martin M; Schlesner, Matthias M; Thomas, Michael M; Stenzinger, Albrecht A; Sültmann, Holger H

Publication Date: 2020-12

Variant appearance in text: ERBB2: R157W

PubMed Link: 33161228

Variant Present in the following documents:

• Main text
• main.pdf

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: ERBB2: 469C>T; R157W

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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The HER2 S310F Mutant Can Form an Active Heterodimer with the EGFR, Which Can Be Inhibited by Cetuximab but Not by Trastuzumab as well as Pertuzumab.

Biomolecules

Shin, Jung Won JW; Kim, Soohyun S; Ha, Suji S; Choi, Byungsan B; Kim, Seongyeong S; Im, Seock-Ah SA; Yoon, Tae-Young TY; Chung, Junho J

Publication Date: 2019-10-19

Variant appearance in text: HER2: R157W

PubMed Link: 31635022

Variant Present in the following documents:

• Main text
• biomolecules-09-00629.pdf

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HER2 somatic mutations are associated with poor survival in HER2-negative breast cancers.

Cancer Science

Wang, Tonghui T; Xu, Ye Y; Sheng, Shuyan S; Yuan, Hua H; Ouyang, Tao T; Li, Jinfeng J; Wang, Tianfeng T; Fan, Zhaoqing Z; Fan, Tie T; Lin, Benyao B; Xie, Yuntao Y

Publication Date: 2017-04

Variant appearance in text: HER2: R157W

PubMed Link: 28164408

Variant Present in the following documents:

• Main text
• CAS-108-671.pdf

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: ERBB2: R157W

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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