PIK3CA c.1624G>A ;(p.E542K)

Variant ID: 3-178936082-G-A

NM_006218.2(PIK3CA):c.1624G>A;(p.E542K)

This variant was identified in 1849 publications

View GRCh38 version.




Publications:


Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness.

Breast Cancer Research : Bcr
Andersen, Lars V B LVB; Larsen, Martin J MJ; Davies, Helen H; Degasperi, Andrea A; Nielsen, Henriette Roed HR; Jensen, Louise A LA; Kroeldrup, Lone L; Gerdes, Anne-Marie AM; Lænkholm, Anne-Vibeke AV; Kruse, Torben A TA; Nik-Zainal, Serena S; Thomassen, Mads M
Publication Date: 2023-06-14

Variant appearance in text: PIK3CA: 1624G>A; E542K
PubMed Link: 37316882
Variant Present in the following documents:
  • 13058_2023_1655_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Phase 1b trial of anti-EGFR antibody JMT101 and Osimertinib in EGFR exon 20 insertion-positive non-small-cell lung cancer.

Nature Communications
Zhao, Shen S; Zhuang, Wu W; Han, Baohui B; Song, Zhengbo Z; Guo, Wei W; Luo, Feng F; Wu, Lin L; Hu, Yi Y; Wang, Huijuan H; Dong, Xiaorong X; Jiang, Da D; Wang, Mingxia M; Miao, Liyun L; Wang, Qian Q; Zhang, Junping J; Fu, Zhenming Z; Huang, Yihua Y; Xu, Chunwei C; Hu, Longyu L; Li, Lei L; Hu, Rong R; Yang, Yang Y; Li, Mengke M; Yang, Xiugao X; Zhang, Li L; Huang, Yan Y; Fang, Wenfeng W
Publication Date: 2023-06-12

Variant appearance in text: PIK3CA: 1624G>A; E542K
PubMed Link: 37308490
Variant Present in the following documents:
  • 41467_2023_39139_MOESM4_ESM.xlsx, sheet 7
  • 41467_2023_39139_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Characterization of p38α autophosphorylation inhibitors that target the non-canonical activation pathway.

Nature Communications
González, Lorena L; Díaz, Lucía L; Pous, Joan J; Baginski, Blazej B; Duran-Corbera, Anna A; Scarpa, Margherita M; Brun-Heath, Isabelle I; Igea, Ana A; Martin-Malpartida, Pau P; Ruiz, Lidia L; Pallara, Chiara C; Esguerra, Mauricio M; Colizzi, Francesco F; Mayor-Ruiz, Cristina C; Biondi, Ricardo M RM; Soliva, Robert R; Macias, Maria J MJ; Orozco, Modesto M; Nebreda, Angel R AR
Publication Date: 2023-06-12

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37308482
Variant Present in the following documents:
  • 41467_2023_39051_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Comprehensive genomic and immunohistochemical profiles and outcomes of immunotherapy in patients with recurrent or advanced cervical cancer.

Frontiers In Oncology
Kim, Yoo-Na YN; Lee, Kyunglim K; Park, Eunhyang E; Park, Junsik J; Lee, Yong Jae YJ; Nam, Eun Ji EJ; Kim, Sang Wun SW; Kim, Sunghoon S; Kim, Young Tae YT; Lee, Jung-Yun JY
Publication Date: 2023

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37256181
Variant Present in the following documents:
  • Main text
  • fonc-13-1156973.pdf
View BVdb publication page



Identification of ARUK2002821 as an isoform-selective PI5P4Kα inhibitor.

Rsc Medicinal Chemistry
Willems, Henriëtte M G HMG; Edwards, Simon S; Boffey, Helen K HK; Chawner, Stephen J SJ; Green, Christopher C; Romero, Tamara T; Winpenny, David D; Skidmore, John J; Clarke, Jonathan H JH; Andrews, Stephen P SP
Publication Date: 2023-05-25

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37252102
Variant Present in the following documents:
  • MD-014-D3MD00039G-s001.pdf
View BVdb publication page



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: 1624G>A; E542K
PubMed Link: 37231433
Variant Present in the following documents:
  • 13058_2023_1627_MOESM4_ESM.xlsx, sheet 2
  • 13058_2023_1627_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.

Journal Of Translational Medicine
Díaz de Ståhl, Teresita T; Shamikh, Alia A; Mayrhofer, Markus M; Juhos, Szilvester S; Basmaci, Elisa E; Prochazka, Gabriela G; Garcia, Maxime M; Somarajan, Praveen Raj PR; Zielinska-Chomej, Katarzyna K; Illies, Christopher C; Øra, Ingrid I; Siesjö, Peter P; Sandström, Per-Erik PE; Stenman, Jakob J; Sabel, Magnus M; Gustavsson, Bengt B; Kogner, Per P; Pfeifer, Susan S; Ljungman, Gustaf G; Sandgren, Johanna J; Nistér, Monica M
Publication Date: 2023-05-23

Variant appearance in text: PIK3CA: Glu542Lys
PubMed Link: 37221626
Variant Present in the following documents:
  • 12967_2023_4178_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The Role of Biomarkers in Guiding Clinical Decision-Making in Oncology.

Journal Of The Advanced Practitioner In Oncology
Moore, Donald C DC; Guinigundo, Andrew S AS
Publication Date: 2023-04

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37206905
Variant Present in the following documents:
  • Main text
  • jadpro-14-15.pdf
View BVdb publication page



ErbB signalling is a potential therapeutic target for vascular lesions with fibrous component.

Elife
Jauhiainen, Suvi S; Ilmonen, Henna H; Vuola, Pia P; Rasinkangas, Heta H; Pulkkinen, Heidi H HH; Keränen, Sara S; Kiema, Miika M; Liikkanen, Jade J JJ; Laham Karam, Nihay N; Laidinen, Svetlana S; Beter, Mustafa M; Aavik, Einari E; Lappalainen, Kimmo K; Lohi, Jouko J; Aronniemi, Johanna J; Örd, Tiit T; Kaikkonen, Minna U MU; Salminen, Päivi P; Tukiainen, Erkki E; Ylä-Herttuala, Seppo S; Laakkonen, Johanna P JP
Publication Date: 2023-05-18

Variant appearance in text: PIK3CA: 1624G>A; E542K
PubMed Link: 37199488
Variant Present in the following documents:
  • Main text
  • elife-82543.pdf
View BVdb publication page



PIK3CA mutations in breast cancer: A Tunisian series.

Plos One
Ben Rekaya, Mariem M; Sassi, Farah F; Saied, Essya E; Bel Haj Kacem, Linda L; Mansouri, Nada N; Zarrouk, Sinda S; Azouz, Saifeddine S; Rammeh, Soumaya S
Publication Date: 2023

Variant appearance in text: PI3K: 1624G>A; rs121913273
PubMed Link: 37195967
Variant Present in the following documents:
  • Main text
  • pone.0285413.pdf
View BVdb publication page



Recent Advances in Field Effect Transistor Biosensors: Designing Strategies and Applications for Sensitive Assay.

Biosensors
Hao, Ruisha R; Liu, Lei L; Yuan, Jiangyan J; Wu, Lingli L; Lei, Shengbin S
Publication Date: 2023-03-27

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37185501
Variant Present in the following documents:
  • Main text
  • biosensors-13-00426.pdf
View BVdb publication page



Clinical and Translational Applications of Serological and Histopathological Biomarkers in Metastatic Breast Cancer: A Comprehensive Review.

International Journal Of Molecular Sciences
Pekarek, Leonel L; Sánchez Cendra, Alicia A; Roberts Cervantes, Eduardo D ED; Sánchez Cendra, Cristina C; Fraile-Martinez, Oscar O; García-Montero, Cielo C; Diaz-Pedrero, Raul R; Torres-Carranza, Diego D; Lopez-Gonzalez, Laura L; Aguado-Henche, Soledad S; Rios-Parra, Antonio A; García-Puente, Luis M LM; García-Honduvilla, Natalio N; Bujan, Julia J; Alvarez-Mon, Melchor M; Saez, Miguel A MA; Ortega, Miguel A MA
Publication Date: 2023-05-07

Variant appearance in text: PI3K: E542K
PubMed Link: 37176102
Variant Present in the following documents:
  • Main text
  • ijms-24-08396.pdf
View BVdb publication page



EML4-ALK biology and drug resistance in Non-Small Cell Lung Cancer: a new phase of discoveries.

Molecular Oncology
Elshatlawy, Mariam M; Sampson, Josephina J; Clarke, Katy K; Bayliss, Richard R
Publication Date: 2023-05-07

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37149843
Variant Present in the following documents:
  • MOL2-17-950.pdf
View BVdb publication page



A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

Cancer Cell
Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J
Publication Date: 2023-04-24

Variant appearance in text: PIK3CA: E542K; rs121913273
PubMed Link: 37116492
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2023-04-26

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37101291
Variant Present in the following documents:
  • 13073_2023_1181_MOESM1_ESM.pdf
View BVdb publication page



A novel integrated approach to predicting cancer immunotherapy efficacy.

Oncogene
Luo, Ruihan R; Chyr, Jacqueline J; Wen, Jianguo J; Wang, Yanfei Y; Zhao, Weiling W; Zhou, Xiaobo X
Publication Date: 2023-04-26

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37100920
Variant Present in the following documents:
  • 41388_2023_2670_MOESM1_ESM.pdf
View BVdb publication page



Long-term survival with anlotinib as a front-line treatment in an elderly NSCLC patient: A case report.

Frontiers In Oncology
Wang, Jingyi J; Li, Xiaoqing X; Zhou, Juan J; Qiu, Dan D; Zhang, Mengyao M; Sun, Lan L; Li, Shengwen Calvin SC
Publication Date: 2023

Variant appearance in text: PIK3CA: 1624G>A; E542K
PubMed Link: 37091182
Variant Present in the following documents:
  • fonc-13-1043244.pdf
View BVdb publication page



Discovery of a Potent and Selective CDKL5/GSK3 Chemical Probe That Is Neuroprotective.

Acs Chemical Neuroscience
Ong, Han Wee HW; Liang, Yi Y; Richardson, William W; Lowry, Emily R ER; Wells, Carrow I CI; Chen, Xiangrong X; Silvestre, Margaux M; Dempster, Kelvin K; Silvaroli, Josie A JA; Smith, Jeffery L JL; Wichterle, Hynek H; Pabla, Navjot S NS; Ultanir, Sila K SK; Bullock, Alex N AN; Drewry, David H DH; Axtman, Alison D AD
Publication Date: 2023-04-21

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37084253
Variant Present in the following documents:
  • cn3c00135_si_001.pdf
View BVdb publication page



Whole exome sequencing analysis of canine urothelial carcinomas without BRAF V595E mutation: Short in-frame deletions in BRAF and MAP2K1 suggest alternative mechanisms for MAPK pathway disruption.

Plos Genetics
Thomas, Rachael R; Wiley, Claire A CA; Droste, Emma L EL; Robertson, James J; Inman, Brant A BA; Breen, Matthew M
Publication Date: 2023-04-20

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37079639
Variant Present in the following documents:
  • Main text
  • pgen.1010575.pdf
View BVdb publication page



Dynamics of Sequence and Structural Cell-Free DNA Landscapes in Small-Cell Lung Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Sivapalan, Lavanya L; Iams, Wade T WT; Belcaid, Zineb Z; Scott, Susan C SC; Niknafs, Noushin N; Balan, Archana A; White, James R JR; Kopparapu, Prasad P; Cann, Christopher C; Landon, Blair V BV; Pereira, Gavin G; Velculescu, Victor E VE; Hann, Christine L CL; Lovly, Christine M CM; Anagnostou, Valsamo V
Publication Date: 2023-04-18

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37071497
Variant Present in the following documents:
  • ccr-22-2242_ts1-9_suppts1-9.xlsx, sheet 6
View BVdb publication page



A Report of a Rare Case of Multiple Fibro adipose Venous Anomaly.

Journal Of Orthopaedic Case Reports
Kumar, L Dhruva LD; Gopurathingal, Anto A; Chinder, Pramod P; Hindiskere, Suraj S
Publication Date: 2022-06

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37065525
Variant Present in the following documents:
  • JOCR-12-19.pdf
View BVdb publication page



Discovery of an In Vivo Chemical Probe for BCL6 Inhibition by Optimization of Tricyclic Quinolinones.

Journal Of Medicinal Chemistry
Harnden, Alice C AC; Davis, Owen A OA; Box, Gary M GM; Hayes, Angela A; Johnson, Louise D LD; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Valenti, Melanie M; Cheung, Kwai-Ming J KJ; Brennan, Alfie A; Huckvale, Rosemary R; Pierrat, Olivier A OA; Talbot, Rachel R; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; de Klerk, Selby S; McAndrew, Peter Craig PC; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S
Publication Date: 2023-04-07

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37026591
Variant Present in the following documents:
  • jm3c00155_si_002.xlsx, sheet 2
View BVdb publication page



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
Publication Date: 2023-04-03

Variant appearance in text: PIK3CA: E542K
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: PIK3CA: E542K; rs121913273
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



APOBEC3-mediated mutagenesis in cancer: causes, clinical significance and therapeutic potential.

Journal Of Hematology & Oncology
Butler, Kelly K; Banday, A Rouf AR
Publication Date: 2023-03-28

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36978147
Variant Present in the following documents:
  • Main text
  • 13045_2023_Article_1425.pdf
View BVdb publication page



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: 1624G>A; E542K
PubMed Link: 36969747
Variant Present in the following documents:
  • crc-22-0258-s08.xlsx, sheet 1
  • crc-22-0258-s09.xlsx, sheet 1
View BVdb publication page



Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: PIK3CA: E542K; rs121913273
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Rethinking glutamine metabolism and the regulation of glutamine addiction by oncogenes in cancer.

Frontiers In Oncology
Ni, Rui R; Li, Ziwei Z; Li, Li L; Peng, Dan D; Ming, Yue Y; Li, Lin L; Liu, Yao Y
Publication Date: 2023

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36959802
Variant Present in the following documents:
  • Main text
  • fonc-13-1143798.pdf
View BVdb publication page



Deep Annotation of Donated Chemical Probes (DCP) in Organotypic Human Liver Cultures and Patient-Derived Organoids from Tumor and Normal Colorectum.

Acs Chemical Biology
Tredup, Claudia C; Ndreshkjana, Benardina B; Schneider, Natalie S NS; Tjaden, Amelie A; Kemas, Aurino M AM; Youhanna, Sonia S; Lauschke, Volker M VM; Berger, Benedict-Tilman BT; Krämer, Andreas A; Berger, Lena M LM; Röhm, Sandra S; Knapp, Stefan S; Farin, Henner F HF; Müller, Susanne S
Publication Date: 2023-03-21

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36944371
Variant Present in the following documents:
  • cb2c00877_si_002.xlsx, sheet 1
  • cb2c00877_si_004.xlsx, sheet 1
View BVdb publication page



PIK3CA and PIK3R1 tumor mutational landscape in a pan-cancer patient cohort and its association with pathway activation and treatment efficacy.

Scientific Reports
Tharin, Zoé Z; Richard, Corentin C; Derangère, Valentin V; Ilie, Alis A; Arnould, Laurent L; Ghiringhelli, François F; Boidot, Romain R; Ladoire, Sylvain S
Publication Date: 2023-03-18

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36934165
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_31593.pdf
View BVdb publication page



KRAS, NRAS, BRAF, and PIK3CA mutation rates, clinicopathological association, and their prognostic value in Iranian colorectal cancer patients.

Journal Of Clinical Laboratory Analysis
Mirzapoor Abbasabadi, Zohreh Z; Hamedi Asl, Dariush D; Rahmani, Babak B; Shahbadori, Rozhin R; Karami, Sara S; Peymani, Amir A; Taghizadeh, Sara S; Samiee Rad, Fatemeh F
Publication Date: 2023-03-17

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36930789
Variant Present in the following documents:
  • Main text
  • JCLA-37-e24868.pdf
View BVdb publication page



Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Publication Date: 2023-03-16

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36928815
Variant Present in the following documents:
  • 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



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
Publication Date: 2022-09

Variant appearance in text: PIK3CA: 1624G>A; Glu542Lys; rs121913273
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 3
  • crc-22-0136-s01.xlsx, sheet 9
View BVdb publication page



Single-cell sequencing reveals that endothelial cells, EndMT cells and mural cells contribute to the pathogenesis of cavernous malformations.

Experimental & Molecular Medicine
Ren, Jian J; Xiao, Xiao X; Li, Ruofei R; Lv, Cheng C; Zhang, Yu Y; Wang, Leiming L; Hong, Tao T; Zhang, Hongqi H; Wang, Yibo Y
Publication Date: 2023-03-13

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36914857
Variant Present in the following documents:
  • Main text
  • 12276_2023_Article_962.pdf
View BVdb publication page



A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36914848
Variant Present in the following documents:
  • 41698_2023_366_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Discovering Synergistic Compounds with BYL-719 in PI3K Overactivated Basal-like PDXs.

Cancers
Boyd, David C DC; Zboril, Emily K EK; Olex, Amy L AL; Leftwich, Tess J TJ; Hairr, Nicole S NS; Byers, Holly A HA; Valentine, Aaron D AD; Altman, Julia E JE; Alzubi, Mohammad A MA; Grible, Jacqueline M JM; Turner, Scott A SA; Ferreira-Gonzalez, Andrea A; Dozmorov, Mikhail G MG; Harrell, J Chuck JC
Publication Date: 2023-03-03

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36900375
Variant Present in the following documents:
  • Main text
  • cancers-15-01582.pdf
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Investigation of the anti-tumor mechanism of tirabrutinib, a highly selective Bruton's tyrosine kinase inhibitor, by phosphoproteomics and transcriptomics.

Plos One
Kozaki, Ryohei R; Yasuhiro, Tomoko T; Kato, Hikaru H; Murai, Jun J; Hotta, Shingo S; Ariza, Yuko Y; Sakai, Shunsuke S; Fujikawa, Ryu R; Yoshida, Takao T
Publication Date: 2023

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36897912
Variant Present in the following documents:
  • pone.0282166.s009.xlsx, sheet 1
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Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes.

Scientific Reports
Ajuyah, Pamela P; Mayoh, Chelsea C; Lau, Loretta M S LMS; Barahona, Paulette P; Wong, Marie M; Chambers, Hazel H; Valdes-Mora, Fatima F; Senapati, Akanksha A; Gifford, Andrew J AJ; D'Arcy, Colleen C; Hansford, Jordan R JR; Manoharan, Neevika N; Nicholls, Wayne W; Williams, Molly M MM; Wood, Paul J PJ; Cowley, Mark J MJ; Tyrrell, Vanessa V; Haber, Michelle M; Ekert, Paul G PG; Ziegler, David S DS; Khuong-Quang, Dong-Anh DA
Publication Date: 2023-03-07

Variant appearance in text: PIK3CA: Glu542Lys
PubMed Link: 36882456
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_30395.pdf
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Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts.

Scientific Reports
Ito, Takahiko T; Takayanagi, Daisuke D; Sekine, Shigeki S; Hashimoto, Taiki T; Shimada, Yoko Y; Matsuda, Maiko M; Yamada, Masayoshi M; Hamamoto, Ryuji R; Kato, Tomoyasu T; Shida, Dai D; Kanemitsu, Yukihide Y; Boku, Narikazu N; Kohno, Takashi T; Takashima, Atsuo A; Shiraishi, Kouya K
Publication Date: 2023-03-03

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36869079
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_30624.pdf
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Cooperativity between H3.3K27M and PDGFRA poses multiple therapeutic vulnerabilities in human iPSC-derived diffuse midline glioma avatars.

Biorxiv : The Preprint Server For Biology
Skinner, Kasey R KR; Koga, Tomoyuki T; Miki, Shunichiro S; Gruener, Robert F RF; Grigore, Florina-Nicoleta FN; Torii, Emma H EH; Seelig, Davis M DM; Suzuki, Yuta Y; Kawauchi, Daisuke D; Lin, Benjamin B; Malicki, Denise M DM; Chen, Clark C CC; Benveniste, Etty N EN; Patel, Rakesh P RP; McFarland, Braden C BC; Huang, R Stephanie RS; Jones, Chris C; Mackay, Alan A; Miller, C Ryan CR; Furnari, Frank B FB
Publication Date: 2023-02-24

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36865329
Variant Present in the following documents:
  • media-2.xlsx, sheet 3
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An integrated genetic analysis of epileptogenic brain malformed lesions.

Acta Neuropathologica Communications
Fujita, Atsushi A; Kato, Mitsuhiro M; Sugano, Hidenori H; Iimura, Yasushi Y; Suzuki, Hiroharu H; Tohyama, Jun J; Fukuda, Masafumi M; Ito, Yosuke Y; Baba, Shimpei S; Okanishi, Tohru T; Enoki, Hideo H; Fujimoto, Ayataka A; Yamamoto, Akiyo A; Kawamura, Kentaro K; Kato, Shinsuke S; Honda, Ryoko R; Ono, Tomonori T; Shiraishi, Hideaki H; Egawa, Kiyoshi K; Shirai, Kentaro K; Yamamoto, Shinji S; Hayakawa, Itaru I; Kawawaki, Hisashi H; Saida, Ken K; Tsuchida, Naomi N; Uchiyama, Yuri Y; Hamanaka, Kohei K; Miyatake, Satoko S; Mizuguchi, Takeshi T; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Miyake, Noriko N; Kakita, Akiyoshi A; Matsumoto, Naomichi N
Publication Date: 2023-03-02

Variant appearance in text: PIK3CA: Glu542Lys
PubMed Link: 36864519
Variant Present in the following documents:
  • Main text
  • 40478_2023_1532_MOESM1_ESM.pdf
  • 40478_2023_Article_1532.pdf
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Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 10
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
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Candidate mechanisms of acquired resistance to first-line osimertinib in EGFR-mutated advanced non-small cell lung cancer.

Nature Communications
Chmielecki, Juliann J; Gray, Jhanelle E JE; Cheng, Ying Y; Ohe, Yuichiro Y; Imamura, Fumio F; Cho, Byoung Chul BC; Lin, Meng-Chih MC; Majem, Margarita M; Shah, Riyaz R; Rukazenkov, Yuri Y; Todd, Alexander A; Markovets, Aleksandra A; Barrett, J Carl JC; Hartmaier, Ryan J RJ; Ramalingam, Suresh S SS
Publication Date: 2023-02-27

Variant appearance in text: PIK3CA: E542K
PubMed Link: 36849494
Variant Present in the following documents:
  • 41467_2023_35961_MOESM3_ESM.xlsx, sheet 2
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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: 1624G>A; Glu542Lys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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