Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas.
Cancers
Szpechcinski, Adam A; Szolkowska, Malgorzata M; Winiarski, Sebastian S; Lechowicz, Urszula U; Wisniewski, Piotr P; Knetki-Wroblewska, Magdalena M
Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.
Assessing CSF ctDNA to Improve Diagnostic Accuracy and Therapeutic Monitoring in Breast Cancer Leptomeningeal Metastasis.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Fitzpatrick, Amanda A; Iravani, Marjan M; Mills, Adam A; Childs, Lucy L; Alaguthurai, Thanussuyah T; Clifford, Angela A; Garcia-Murillas, Isaac I; Van Laere, Steven S; Dirix, Luc L; Harries, Mark M; Okines, Alicia A; Turner, Nicholas C NC; Haider, Syed S; Tutt, Andrew N J ANJ; Isacke, Clare M CM
Association of HER1 and HER2 Gene Variants in the Predisposition of Colorectal Cancer.
Journal Of Oncology
Alanazi, Ibrahim O IO; Shaik, Jilani Purusottapatnam JP; Parine, Narasimha Reddy NR; Azzam, Nahla A NA; Alharbi, Othman O; Hawsawi, Yousef M YM; Oyouni, Atif Abdulwahab A AAA; Al-Amer, Osama M OM; Alzahrani, Faisal F; Almadi, Majid A MA; Aljebreen, Abdulrahman M AM; Alanazi, Mohammad Saud MS; Khan, Zahid Z
Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR.
Scientific Reports
Lim, Yoojoo Y; Kim, Sheehyun S; Kang, Jun-Kyu JK; Kim, Hwang-Phill HP; Jang, Hoon H; Han, Hyojun H; Kim, Hyoki H; Kim, Min Jung MJ; Lee, Kyung-Hun KH; Ryoo, Seung-Bum SB; Park, Ji Won JW; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Kang, Gyeong Hoon GH; Han, Sae-Won SW; Kim, Tae-You TY
Publication Date: 2021-08-11
Variant appearance in text: ERBB2: 1960A>G; Ile654Val; rs1801201
Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms.
Cancers
Braunstein, Evan M EM; Chen, Hang H; Juarez, Felicia F; Yang, Fanghan F; Tao, Lindsay L; Makhlin, Igor I; Williams, Donna M DM; Chaturvedi, Shruti S; Pallavajjala, Aparna A; Karantanos, Theodoros T; Martin, Renan R; Wohler, Elizabeth E; Sobreira, Nara N; Gocke, Christopher D CD; Moliterno, Alison R AR
HER2Ile655Val Single Nucleotide Polymorphism Associated with Early-Onset Breast Cancer Susceptibility: A Systematic Review and Meta-Analysis.
Asian Pacific Journal Of Cancer Prevention : Apjcp
Nguyen Thanh, Tung T; Nguyen Tran, Bao Song BS; Hoang Thi, Ai Phuong AP; Tran Binh, Thang T; Ba Nguyen, Thong T; Le Minh, Tam T; Nguyen Vu, Quoc Huy QH; Dang Cong, Thuan T
Functional Common and Rare ERBB2 Germline Variants Cooperate in Familial and Sporadic Cancer Susceptibility.
Cancer Prevention Research (Philadelphia, Pa.)
Bao, Riyue R; Ng, Anita A; Sasaki, Mark M; Esai Selvan, Myvizhi M; Katti, Alyna A; Lee, Hyesan H; Huang, Lei L; Skol, Andrew D AD; Lavarino, Cinzia C; Salvador, Hector H; Klein, Robert J RJ; Gümüş, Zeynep H ZH; Mora, Jaume J; Onel, Kenan K
Publication Date: 2021-04
Variant appearance in text: ERBB2: i654V; rs1801201
Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.
Diagnostics (Basel, Switzerland)
Niwinska, Anna A; Bałabas, Aneta A; Kulecka, Maria M; Kluska, Anna A; Piątkowska, Magdalena M; Paziewska, Agnieszka A; Pyśniak, Kazimiera K; Olszewski, Wojciech W; Mikula, Michał M; Ostrowski, Jerzy J
Optimization of a WGA-Free Molecular Tagging-Based NGS Protocol for CTCs Mutational Profiling.
International Journal Of Molecular Sciences
De Luca, Giuseppa G; Cardinali, Barbara B; Del Mastro, Lucia L; Lastraioli, Sonia S; Carli, Franca F; Ferrarini, Manlio M; Calin, George A GA; Garuti, Anna A; Mazzitelli, Carlotta C; Zupo, Simona S; Dono, Mariella M
A phase I dose-escalation study of enzalutamide in combination with the AKT inhibitor AZD5363 (capivasertib) in patients with metastatic castration-resistant prostate cancer.
Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Kolinsky, M P MP; Rescigno, P P; Bianchini, D D; Zafeiriou, Z Z; Mehra, N N; Mateo, J J; Michalarea, V V; Riisnaes, R R; Crespo, M M; Figueiredo, I I; Miranda, S S; Nava Rodrigues, D D; Flohr, P P; Tunariu, N N; Banerji, U U; Ruddle, R R; Sharp, A A; Welti, J J; Lambros, M M; Carreira, S S; Raynaud, F I FI; Swales, K E KE; Plymate, S S; Luo, J J; Tovey, H H; Porta, N N; Slade, R R; Leonard, L L; Hall, E E; de Bono, J S JS
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: ERBB2: 1960A>G; I654V; rs1801201
False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.
Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
The ERBB2 gene polymorphisms rs2643194, rs2934971, and rs1058808 are associated with increased risk of gastric cancer.
Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas
Vázquez-Ibarra, K C KC; Bustos-Carpinteyro, A R AR; García-Ruvalcaba, A A; Magaãa-Torres, M T MT; Gutiérrez-Aguilar, R R; Marín-Contreras, M E ME; Santiago-Luna, E E; Sánchez-López, J Y JY
Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.
Ebiomedicine
Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V
Publication Date: 2019-03
Variant appearance in text: ERBB2: I654V; rs1801201
Targeted mutation detection in breast cancer using MammaSeq™.
Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.
Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Self-renewal of CD133(hi) cells by IL6/Notch3 signalling regulates endocrine resistance in metastatic breast cancer.
Nature Communications
Sansone, Pasquale P; Ceccarelli, Claudio C; Berishaj, Marjan M; Chang, Qing Q; Rajasekhar, Vinagolu K VK; Perna, Fabiana F; Bowman, Robert L RL; Vidone, Michele M; Daly, Laura L; Nnoli, Jennifer J; Santini, Donatella D; Taffurelli, Mario M; Shih, Natalie N C NN; Feldman, Michael M; Mao, Jun J JJ; Colameco, Christopher C; Chen, Jinbo J; DeMichele, Angela A; Fabbri, Nicola N; Healey, John H JH; Cricca, Monica M; Gasparre, Giuseppe G; Lyden, David D; Bonafé, Massimiliano M; Bromberg, Jacqueline J
Pro1170 Ala polymorphism in HER2-neu is associated with risk of trastuzumab cardiotoxicity.
Bmc Cancer
Stanton, Sasha E SE; Ward, Maureen M MM; Christos, Paul P; Sanford, Rachel R; Lam, Christina C; Cobham, Marta V MV; Donovan, Diana D; Scheff, Ronald J RJ; Cigler, Tessa T; Moore, Anne A; Vahdat, Linda T LT; Lane, Maureen E ME; Chuang, Ellen E
HER family kinase domain mutations promote tumor progression and can predict response to treatment in human breast cancer.
Molecular Oncology
Boulbes, Delphine R DR; Arold, Stefan T ST; Chauhan, Gaurav B GB; Blachno, Korina V KV; Deng, Nanfu N; Chang, Wei-Chao WC; Jin, Quanri Q; Huang, Tzu-Hsuan TH; Hsu, Jung-Mao JM; Brady, Samuel W SW; Bartholomeusz, Chandra C; Ladbury, John E JE; Stone, Steve S; Yu, Dihua D; Hung, Mien-Chie MC; Esteva, Francisco J FJ
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: ERBB2: I654V; rs1801201
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
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: ERBB2: I654V; rs1801201
Heritable variation of ERBB2 and breast cancer risk.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Breyer, Joan P JP; Sanders, Melinda E ME; Airey, David C DC; Cai, Qiuyin Q; Yaspan, Brian L BL; Schuyler, Peggy A PA; Dai, Qi Q; Boulos, Fouad F; Olivares, Maria G MG; Bradley, Kevin M KM; Gao, Yu-Tang YT; Page, David L DL; Dupont, William D WD; Zheng, Wei W; Smith, Jeffrey R JR
Publication Date: 2009-04
Variant appearance in text: ERBB2: I654V; rs1801201
Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Mavaddat, Nasim N; Dunning, Alison M AM; Ponder, Bruce A J BA; Easton, Douglas F DF; Pharoah, Paul D PD
TP53-binding protein variants and breast cancer risk: a case-control study.
Breast Cancer Research : Bcr
Frank, Bernd B; Hemminki, Kari K; Bermejo, Justo Lorenzo JL; Klaes, Rüdiger R; Bugert, Peter P; Wappenschmidt, Barbara B; Schmutzler, Rita K RK; Burwinkel, Barbara B