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: R143Q; rs185670819
A Genomically and Clinically Annotated Patient-Derived Xenograft Resource for Preclinical Research in Non-Small Cell Lung Cancer.
Cancer Research
Woo, Xing Yi XY; Srivastava, Anuj A; Mack, Philip C PC; Graber, Joel H JH; Sanderson, Brian J BJ; Lloyd, Michael W MW; Chen, Mandy M; Domanskyi, Sergii S; Gandour-Edwards, Regina R; Tsai, Rebekah A RA; Keck, James J; Cheng, Mingshan M; Bundy, Margaret M; Jocoy, Emily L EL; Riess, Jonathan W JW; Holland, William W; Grubb, Stephen C SC; Peterson, James G JG; Stafford, Grace A GA; Paisie, Carolyn C; Neuhauser, Steven B SB; Karuturi, R Krishna Murthy RKM; George, Joshy J; Simons, Allen K AK; Chavaree, Margaret M; Tepper, Clifford G CG; Goodwin, Neal N; Airhart, Susan D SD; Lara, Primo N PN; Openshaw, Thomas H TH; Liu, Edison T ET; Gandara, David R DR; Bult, Carol J CJ
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.
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
Mutation Profile Assessed by Next-Generation Sequencing (NGS) of Circulating Tumor DNA (ctDNA) in Chinese Lung Adenocarcinoma Patients: Analysis of Real-World Data.
Clinicopathological and Molecular Analysis of 45 Cases of Pure Mucinous Breast Cancer.
Frontiers In Oncology
Yim, Hyun Ee HE; Kim, Jang-Hee JH; Ahn, Mi Sun MS; Jung, Yongsik Y; Roh, Jin J; Park, So Hyun SH; Kim, Tae-Gyu TG; Choi, Jin-Hyuk JH; Kang, Seok Yun SY
Circulating Tumour DNA Sequencing Identifies a Genetic Resistance-Gap in Colorectal Cancers with Acquired Resistance to EGFR-Antibodies and Chemotherapy.
Cancers
Knebel, Franciele H FH; Barber, Louise J LJ; Newey, Alice A; Kleftogiannis, Dimitrios D; Woolston, Andrew A; Griffiths, Beatrice B; Fenwick, Kerry K; Bettoni, Fabiana F; Ribeiro, Maurício Fernando Silva Almeida MFSA; da Fonseca, Leonardo L; Costa, Frederico F; Capareli, Fernanda Cunha FC; Hoff, Paulo M PM; Sabbaga, Jorge J; Camargo, Anamaria A AA; Gerlinger, Marco M
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Comprehensive pharmacogenomic characterization of gastric cancer.
Genome Medicine
Sa, Jason K JK; Hong, Jung Yong JY; Lee, In-Kyoung IK; Kim, Ju-Sun JS; Sim, Moon-Hee MH; Kim, Ha Jung HJ; An, Ji Yeong JY; Sohn, Tae Sung TS; Lee, Joon Ho JH; Bae, Jae Moon JM; Kim, Sung S; Kim, Kyoung-Mee KM; Kim, Seung Tae ST; Park, Se Hoon SH; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Her, Nam-Gu NG; Lee, Yeri Y; Cho, Hee Jin HJ; Shin, Yong Jae YJ; Kim, Misuk M; Koo, Harim H; Kim, Mirinae M; Seo, Yun Jee YJ; Kim, Ja Yeon JY; Choi, Min-Gew MG; Nam, Do-Hyun DH; Lee, Jeeyun J
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Plos One
Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY
Publication Date: 2019
Variant appearance in text: ERBB2: R143Q; rs185670819
Blood-based monitoring identifies acquired and targetable driver HER2 mutations in endocrine-resistant metastatic breast cancer.
Npj Precision Oncology
Medford, Arielle J AJ; Dubash, Taronish D TD; Juric, Dejan D; Spring, Laura L; Niemierko, Andrzej A; Vidula, Neelima N; Peppercorn, Jeffrey J; Isakoff, Steven S; Reeves, Brittany A BA; LiCausi, Joseph A JA; Wesley, Benjamin B; Malvarosa, Giuliana G; Yuen, Megan M; Wittner, Ben S BS; Lawrence, Michael S MS; Iafrate, A John AJ; Ellisen, Leif L; Moy, Beverly B; Toner, Mehmet M; Maheswaran, Shyamala S; Haber, Daniel A DA; Bardia, Aditya A
Molecular Landscape of ERBB2/ERBB3 Mutated Colorectal Cancer.
Journal Of The National Cancer Institute
Loree, Jonathan M JM; Bailey, Ann M AM; Johnson, Amber M AM; Yu, Yao Y; Wu, Wenhui W; Bristow, Christopher A CA; Davis, Jennifer S JS; Shaw, Kenna R KR; Broaddus, Russell R; Banks, Kimberly C KC; Lanman, Richard B RB; Meric-Bernstam, Funda F; Overman, Michael J MJ; Kopetz, Scott S; Raghav, Kanwal K
Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.
Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Therapeutic strategies and genetic profile comparisons in small cell carcinoma and large cell neuroendocrine carcinoma of the lung using next-generation sequencing.
Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.
Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
ARID1B alterations identify aggressive tumors in neuroblastoma.
Oncotarget
Lee, Soo Hyun SH; Kim, Jung-Sun JS; Zheng, Siyuan S; Huse, Jason T JT; Bae, Joon Seol JS; Lee, Ji Won JW; Yoo, Keon Hee KH; Koo, Hong Hoe HH; Kyung, Sungkyu S; Park, Woong-Yang WY; Sung, Ki W KW
Publication Date: 2017-07-11
Variant appearance in text: ERBB2: R143Q; rs185670819
Impact of ERBB2 mutations on in vitro sensitivity of bladder cancer to lapatinib.
Cancer Biology & Therapy
de Martino, Michela M; Zhuang, Dazhong D; Klatte, Tobias T; Rieken, Malte M; Rouprêt, Morgan M; Xylinas, Evanguelos E; Clozel, Thomas T; Krzywinski, Martin M; Elemento, Olivier O; Shariat, Shahrokh F SF
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: R143Q; rs185670819