JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.
Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21
Variant appearance in text: KMT2C: 943G>A; G315S; rs149992209
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
Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.
Hemasphere
Meyers, Sarah S; Alberti-Servera, Llucia L; Gielen, Olga O; Erard, Margot M; Swings, Toon T; De Bie, Jolien J; Michaux, Lucienne L; Dewaele, Barbara B; Boeckx, Nancy N; Uyttebroeck, Anne A; De Keersmaecker, Kim K; Maertens, Johan J; Segers, Heidi H; Cools, Jan J; Demeyer, Sofie S
Publication Date: 2022-04
Variant appearance in text: KMT2C: 943G>A; G315S; rs149992209
Effective Menin inhibitor-based combinations against AML with MLL rearrangement or NPM1 mutation (NPM1c).
Blood Cancer Journal
Fiskus, Warren W; Boettcher, Steffen S; Daver, Naval N; Mill, Christopher P CP; Sasaki, Koji K; Birdwell, Christine E CE; Davis, John A JA; Takahashi, Koichi K; Kadia, Tapan M TM; DiNardo, Courtney D CD; Jin, Qi Q; Qi, Yuan Y; Su, Xiaoping X; McGeehan, Gerard M GM; Khoury, Joseph D JD; Ebert, Benjamin L BL; Bhalla, Kapil N KN
Effective Menin inhibitor-based combinations against AML with MLL rearrangement or NPM1 mutation (NPM1c).
Blood Cancer Journal
Fiskus, Warren W; Boettcher, Steffen S; Daver, Naval N; Mill, Christopher P CP; Sasaki, Koji K; Birdwell, Christine E CE; Davis, John A JA; Takahashi, Koichi K; Kadia, Tapan M TM; DiNardo, Courtney D CD; Jin, Qi Q; Qi, Yuan Y; Su, Xiaoping X; McGeehan, Gerard M GM; Khoury, Joseph D JD; Ebert, Benjamin L BL; Bhalla, Kapil N KN
Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL
Publication Date: 2022-02
Variant appearance in text: KMT2C: 943G>A; Gly315Ser
Exome sequencing identifies novel somatic variants in African American esophageal squamous cell carcinoma.
Scientific Reports
Erkizan, Hayriye Verda HV; Sukhadia, Shrey S; Natarajan, Thanemozhi G TG; Marino, Gustavo G; Notario, Vicente V; Lichy, Jack H JH; Wadleigh, Robert G RG
Genomic and transcriptomic analysis of pituitary adenomas reveals the impacts of copy number variations on gene expression and clinical prognosis among prolactin-secreting subtype.
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
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
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: KMT2C: G315S; rs149992209
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
KMT2C Mutations in Diffuse-Type Gastric Adenocarcinoma Promote Epithelial-to-Mesenchymal Transition.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Cho, Soo-Jeong SJ; Yoon, Changhwan C; Lee, Jun Ho JH; Chang, Kevin K KK; Lin, Jian-Xian JX; Kim, Young-Ho YH; Kook, Myeong-Cherl MC; Aksoy, Bülent Arman BA; Park, Do Joong DJ; Ashktorab, Hassan H; Smoot, Duane T DT; Schultz, Nikolaus N; Yoon, Sam S SS
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15
Variant appearance in text: KMT2C: 943G>A; Gly315Ser; rs149992209
Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.
Nature Communications
Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: MLL3: 943G>A; rs149992209
Whole-exome analysis in osteosarcoma to identify a personalized therapy.
Oncotarget
Chiappetta, Caterina C; Mancini, Massimiliano M; Lessi, Francesca F; Aretini, Paolo P; De Gregorio, Veronica V; Puggioni, Chiara C; Carletti, Raffaella R; Petrozza, Vincenzo V; Civita, Prospero P; Franceschi, Sara S; Naccarato, Antonio G AG; Rocca, Carlo Della CD; Mazzanti, Chiara M CM; Di Cristofano, Claudio C
Publication Date: 2017-10-06
Variant appearance in text: KMT2C: 943G>A; Gly315Ser
Tumor Evolution in Two Patients with Basal-like Breast Cancer: A Retrospective Genomics Study of Multiple Metastases.
Plos Medicine
Hoadley, Katherine A KA; Siegel, Marni B MB; Kanchi, Krishna L KL; Miller, Christopher A CA; Ding, Li L; Zhao, Wei W; He, Xiaping X; Parker, Joel S JS; Wendl, Michael C MC; Fulton, Robert S RS; Demeter, Ryan T RT; Wilson, Richard K RK; Carey, Lisa A LA; Perou, Charles M CM; Mardis, Elaine R ER
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Oncotarget
Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP
Clonal relationships between lobular carcinoma in situ and other breast malignancies.
Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
BRAF alteration status and the histone H3F3A gene K27M mutation segregate spinal cord astrocytoma histology.
Acta Neuropathologica
Shankar, Ganesh M GM; Lelic, Nina N; Gill, Corey M CM; Thorner, Aaron R AR; Van Hummelen, Paul P; Wisoff, Jeffrey H JH; Loeffler, Jay S JS; Brastianos, Priscilla K PK; Shin, John H JH; Borges, Lawrence F LF; Butler, William E WE; Zagzag, David D; Brody, Rachel I RI; Duhaime, Ann-Christine AC; Taylor, Michael D MD; Hawkins, Cynthia E CE; Louis, David N DN; Cahill, Daniel P DP; Curry, William T WT; Meyerson, Matthew M
Publication Date: 2016-01
Variant appearance in text: MLL3: 943G>A; rs149992209
Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.
Jama
Mody, Rajen J RJ; Wu, Yi-Mi YM; Lonigro, Robert J RJ; Cao, Xuhong X; Roychowdhury, Sameek S; Vats, Pankaj P; Frank, Kevin M KM; Prensner, John R JR; Asangani, Irfan I; Palanisamy, Nallasivam N; Dillman, Jonathan R JR; Rabah, Raja M RM; Kunju, Laxmi Priya LP; Everett, Jessica J; Raymond, Victoria M VM; Ning, Yu Y; Su, Fengyun F; Wang, Rui R; Stoffel, Elena M EM; Innis, Jeffrey W JW; Roberts, J Scott JS; Robertson, Patricia L PL; Yanik, Gregory G; Chamdin, Aghiad A; Connelly, James A JA; Choi, Sung S; Harris, Andrew C AC; Kitko, Carrie C; Rao, Rama Jasty RJ; Levine, John E JE; Castle, Valerie P VP; Hutchinson, Raymond J RJ; Talpaz, Moshe M; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.
Plos One
Vaqué, José P JP; Martínez, Nerea N; Varela, Ignacio I; Fernández, Fidel F; Mayorga, Marta M; Derdak, Sophia S; Beltrán, Sergi S; Moreno, Thaidy T; Almaraz, Carmen C; De Las Heras, Gonzalo G; Bayés, Mónica M; Gut, Ivo I; Crespo, Javier J; Piris, Miguel A MA
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24
Variant appearance in text: MLL3: 943G>A; rs149992209
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.
Oncotarget
Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S
Publication Date: 2014-11-15
Variant appearance in text: MLL3: 943G>A; rs149992209