Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.
Breast Cancer Research : Bcr
Miyashita, Minoru M; Bell, Joshua S K JSK; Wenric, Stephane S; Karaesmen, Ezgi E; Rhead, Brooke B; Kase, Matthew M; Kaneva, Kristiyana K; De La Vega, Francisco M FM; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Khramtsova, Galina G; Liu, Fang F; Zhao, Fangyuan F; Howard, Frederick M FM; Nanda, Rita R; Beaubier, Nike N; White, Kevin P KP; Huo, Dezheng D; Olopade, Olufunmilayo I OI
Publication Date: 2023-05-25
Variant appearance in text: PIK3CA: 1637A>C; Q546P
Multiple PIK3CA mutation clonality correlates with outcomes in taselisib + fulvestrant-treated ER+/HER2-, PIK3CA-mutated breast cancers.
Genome Medicine
Hutchinson, Katherine E KE; Chen, Jessica W JW; Savage, Heidi M HM; Stout, Thomas J TJ; Schimmoller, Frauke F; Cortés, Javier J; Dent, Susan S; Harbeck, Nadia N; Jacot, William W; Krop, Ian I; Trabucco, Sally E SE; Sivakumar, Smruthy S; Sokol, Ethan S ES; Wilson, Timothy R TR
Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.
Cancer Research Communications
Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J
Publication Date: 2022-10
Variant appearance in text: PIK3CA: 1637A>C; Q546P
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: PIK3CA: 1637A>C; Gln546Pro
Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24
Variant appearance in text: PIK3CA: 1637A>C; Gln546Pro
Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.
Nature Communications
Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES
Phenotypic plasticity and genetic control in colorectal cancer evolution.
Nature
Househam, Jacob J; Heide, Timon T; Cresswell, George D GD; Spiteri, Inmaculada I; Kimberley, Chris C; Zapata, Luis L; Lynn, Claire C; James, Chela C; Mossner, Maximilian M; Fernandez-Mateos, Javier J; Vinceti, Alessandro A; Baker, Ann-Marie AM; Gabbutt, Calum C; Berner, Alison A; Schmidt, Melissa M; Chen, Bingjie B; Lakatos, Eszter E; Gunasri, Vinaya V; Nichol, Daniel D; Costa, Helena H; Mitchinson, Miriam M; Ramazzotti, Daniele D; Werner, Benjamin B; Iorio, Francesco F; Jansen, Marnix M; Caravagna, Giulio G; Barnes, Chris P CP; Shibata, Darryl D; Bridgewater, John J; Rodriguez-Justo, Manuel M; Magnani, Luca L; Sottoriva, Andrea A; Graham, Trevor A TA
Prevalence of Molecular Alterations in a Swiss Cohort of 512 Colorectal Carcinoma Patients by Targeted Next-Generation Sequencing Analysis in Routine Diagnostics.
Pathobiology : Journal Of Immunopathology, Molecular And Cellular Biology
Haefliger, Simon S; Marston, Katharina K; Alborelli, Ilaria I; Stauffer, Edouard-Jean EJ; Gugger, Mathias M; Jermann, Philip M PM; Hoeller, Sylvia S; Tornillo, Luigi L; Terracciano, Luigi M LM; Bihl, Michel M; Matter, Matthias S MS
Shallow WGS of individual CTCs identifies actionable targets for informing treatment decisions in metastatic breast cancer.
British Journal Of Cancer
Fernandez-Garcia, Daniel D; Nteliopoulos, Georgios G; Hastings, Robert K RK; Rushton, Amelia A; Page, Karen K; Allsopp, Rebecca C RC; Ambasager, Bana B; Gleason, Kelly K; Guttery, David S DS; Ali, Simak S; Charles Coombes, R R; Shaw, Jacqueline A JA
Anthracycline-Free Neoadjuvant Treatment in Patients with HER2-Positive Breast Cancer: Real-Life Use of Pertuzumab, Trastuzumab and Taxanes Association with an Exploratory Analysis of PIK3CA Mutational Status.
Cancers
Irelli, Azzurra A; Parisi, Alessandro A; D'Orazio, Carla C; Sidoni, Tina T; Rotondaro, Silvia S; Patruno, Leonardo L; Pavese, Francesco F; Bafile, Alberto A; Resta, Valter V; Pizzorno, Laura L; Ciuffetelli, Virginia V; Dal Mas, Antonella A; Calvisi, Giuseppe G; Di Sibio, Alessandra A; Marzullo, Anna A; Zelli, Veronica V; Compagnoni, Chiara C; Tessitore, Alessandra A; Alesse, Edoardo E; Ficorella, Corrado C; Cortellini, Alessio A; Cannita, Katia K
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.
Neuro-Oncology
Zhang, Yalan Y; Lucas, Calixto-Hope G CG; Young, Jacob S JS; Morshed, Ramin A RA; McCoy, Lucie L; Oberheim Bush, Nancy Ann NA; Taylor, Jennie W JW; Daras, Mariza M; Butowski, Nicholas A NA; Villanueva-Meyer, Javier E JE; Cha, Soonmee S; Wrensch, Margaret M; Wiencke, John K JK; Lee, Julieann C JC; Pekmezci, Melike M; Phillips, Joanna J JJ; Perry, Arie A; Bollen, Andrew W AW; Aghi, Manish K MK; Theodosopoulos, Philip P; Chang, Edward F EF; Hervey-Jumper, Shawn L SL; Berger, Mitchel S MS; Clarke, Jennifer L JL; Chang, Susan M SM; Molinaro, Annette M AM; Solomon, David A DA
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.
Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Multi-omic machine learning predictor of breast cancer therapy response.
Nature
Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C
Persistence of ctDNA in Patients with Breast Cancer During Neoadjuvant Treatment Is a Significant Predictor of Poor Tumor Response.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Zhou, Qing Q; Gampenrieder, Simon P SP; Frantal, Sophie S; Rinnerthaler, Gabriel G; Singer, Christian F CF; Egle, Daniel D; Pfeiler, Georg G; Bartsch, Rupert R; Wette, Viktor V; Pichler, Angelika A; Petru, Edgar E; Dubsky, Peter C PC; Bago-Horvath, Zsuzsanna Z; Fesl, Christian C; Rudas, Margaretha M; Ståhlberg, Anders A; Graf, Ricarda R; Weber, Sabrina S; Dandachi, Nadia N; Filipits, Martin M; Gnant, Michael M; Balic, Marija M; Heitzer, Ellen E
Publication Date: 2022-02-15
Variant appearance in text: PIK3CA: 1637A>C; Gln546Pro
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Cell Reports
Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ
Publication Date: 2021-11-16
Variant appearance in text: PIK3CA: 1637A>C; Gln546Pro
Molecular and genomic characterisation of a panel of human anal cancer cell lines.
Cell Death & Disease
Guerra, Glen R GR; Kong, Joseph C JC; Millen, Rosemary M RM; Read, Matthew M; Liu, David S DS; Roth, Sara S; Sampurno, Shienny S; Sia, Joseph J; Bernardi, Maria-Pia MP; Chittleborough, Timothy J TJ; Behrenbruch, Corina C CC; Teh, Jiasian J; Xu, Huiling H; Haynes, Nicole M NM; Yu, Jiaan J; Lupat, Richard R; Hawkes, David D; Di Costanzo, Natasha N; Tothill, Richard W RW; Mitchell, Catherine C; Ngan, Samuel Y SY; Heriot, Alexander G AG; Ramsay, Robert G RG; Phillips, Wayne A WA
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Sun, Hua H; Cao, Song S; Mashl, R Jay RJ; Mo, Chia-Kuei CK; Zaccaria, Simone S; Wendl, Michael C MC; Davies, Sherri R SR; Bailey, Matthew H MH; Primeau, Tina M TM; Hoog, Jeremy J; Mudd, Jacqueline L JL; Dean, Dennis A DA; Patidar, Rajesh R; Chen, Li L; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka G RG; Rodrigues, Fernanda Martins FM; Terekhanova, Nadezhda V NV; Li, Yize Y; Lim, Kian-Huat KH; Wang-Gillam, Andrea A; Van Tine, Brian A BA; Ma, Cynthia X CX; Aft, Rebecca R; Fuh, Katherine C KC; Schwarz, Julie K JK; Zevallos, Jose P JP; Puram, Sidharth V SV; Dipersio, John F JF; , ; Davis-Dusenbery, Brandi B; Ellis, Matthew J MJ; Lewis, Michael T MT; Davies, Michael A MA; Herlyn, Meenhard M; Fang, Bingliang B; Roth, Jack A JA; Welm, Alana L AL; Welm, Bryan E BE; Meric-Bernstam, Funda F; Chen, Feng F; Fields, Ryan C RC; Li, Shunqiang S; Govindan, Ramaswamy R; Doroshow, James H JH; Moscow, Jeffrey A JA; Evrard, Yvonne A YA; Chuang, Jeffrey H JH; Raphael, Benjamin J BJ; Ding, Li L
The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets.
Nature Communications
van Riet, Job J; van de Werken, Harmen J G HJG; Cuppen, Edwin E; Eskens, Ferry A L M FALM; Tesselaar, Margot M; van Veenendaal, Linde M LM; Klümpen, Heinz-Josef HJ; Dercksen, Marcus W MW; Valk, Gerlof D GD; Lolkema, Martijn P MP; Sleijfer, Stefan S; Mostert, Bianca B
Publication Date: 2021-07-29
Variant appearance in text: PIK3CA: 1637A>C; Gln546Pro; rs397517201
Fragmentation patterns and personalized sequencing of cell-free DNA in urine and plasma of glioma patients.
Embo Molecular Medicine
Mouliere, Florent F; Smith, Christopher G CG; Heider, Katrin K; Su, Jing J; van der Pol, Ymke Y; Thompson, Mareike M; Morris, James J; Wan, Jonathan C M JCM; Chandrananda, Dineika D; Hadfield, James J; Grzelak, Marta M; Hudecova, Irena I; Couturier, Dominique-Laurent DL; Cooper, Wendy W; Zhao, Hui H; Gale, Davina D; Eldridge, Matthew M; Watts, Colin C; Brindle, Kevin K; Rosenfeld, Nitzan N; Mair, Richard R
Publication Date: 2021-08-09
Variant appearance in text: PIK3CA: 1637A>C; Gln546Pro
Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.
Breast Cancer Research And Treatment
Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA
Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.
Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS