Publications:

---

Somatic and germline aberrations in homologous recombination repair genes in Chinese prostate cancer patients.

Frontiers In Oncology

Liu, Yixiao Y; Jin, Bo B; Shen, Cheng C; Gao, Xianshu X; Qi, Xin X; Ma, Mingwei M; Li, Hongzhen H; Hao, Han H; Tang, Qi Q; Yang, Kaiwei K; Mi, Yue Y; Guan, Jie J; Feng, Xuero X; He, Zhisong Z; Li, Haixia H; Yu, Wei W

Publication Date: 2023

Variant appearance in text: HER2: 1366C>T

PubMed Link: 37064136

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

---

Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.

Cancer Medicine

Montes-Rodríguez, Ingrid M IM; Centeno-Girona, Hilmaris H; Rivera-Lynch, Camila C; Rivera, Noridza N; Cruz-Correa, Marcia M

Publication Date: 2023-04-11

Variant appearance in text: ERBB2: R456C

PubMed Link: 37039257

Variant Present in the following documents:

• Main text
• CAM4-12-11686.pdf

View BVdb publication page

---

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: ERBB2: 1366C>T; Arg456Cys

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

---

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: ERBB2: R456C

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: ERBB2: 1366C>T; R456C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 1366C>T; R456C

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

---

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: 1366C>T; R456C

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: R456C

PubMed Link: 32256585

Variant Present in the following documents:

• Main text
• JO2020-6375956.pdf

View BVdb publication page

---

Neratinib is effective in breast tumors bearing both amplification and mutation of ERBB2 (HER2).

Science Signaling

Cocco, Emiliano E; Javier Carmona, F F; Razavi, Pedram P; Won, Helen H HH; Cai, Yanyan Y; Rossi, Valentina V; Chan, Carmen C; Cownie, James J; Soong, Joanne J; Toska, Eneda E; Shifman, Sophie G SG; Sarotto, Ivana I; Savas, Peter P; Wick, Michael J MJ; Papadopoulos, Kyriakos P KP; Moriarty, Alyssa A; Cutler, Richard E RE; Avogadri-Connors, Francesca F; Lalani, Alshad S AS; Bryce, Richard P RP; Chandarlapaty, Sarat S; Hyman, David M DM; Solit, David B DB; Boni, Valentina V; Loi, Sherene S; Baselga, José J; Berger, Michael F MF; Montemurro, Filippo F; Scaltriti, Maurizio M

Publication Date: 2018-10-09

Variant appearance in text: HER2: R456C

PubMed Link: 30301790

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs200497646

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

A pilot study evaluating concordance between blood-based and patient-matched tumor molecular testing within pancreatic cancer patients participating in the Know Your Tumor (KYT) initiative.

Oncotarget

Pishvaian, Michael J MJ; Joseph Bender, R R; Matrisian, Lynn M LM; Rahib, Lola L; Hendifar, Andrew A; Hoos, William A WA; Mikhail, Sam S; Chung, Vincent V; Picozzi, Vincent V; Heartwell, Craig C; Mason, Kimberly K; Varieur, Katelyn K; Aberra, Metasebia M; Madhavan, Subha S; Petricoin, Emanuel E; Brody, Jonathan R JR

Publication Date: 2017-10-13

Variant appearance in text: ERBB2: R456C

PubMed Link: 29137355

Variant Present in the following documents:

• oncotarget-08-83446-s002.xlsx, sheet 2

View BVdb publication page

---