PIK3CA c.1573G>A ;(p.E525K)

Variant ID: 3-178936031-G-A

NM_006218.2(PIK3CA):c.1573G>A;(p.E525K)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Targeted Sequencing of Cytokine-Induced PI3K-Related Genes in Ulcerative Colitis, Colorectal Cancer and Colitis-Associated Cancer.

International Journal Of Molecular Sciences
Razali, Nurul Nadirah NN; Raja Ali, Raja Affendi RA; Muhammad Nawawi, Khairul Najmi KN; Yahaya, Azyani A; Mokhtar, Norfilza M NM
Publication Date: 2022-09-29

Variant appearance in text: PI3K: 1573G>A
PubMed Link: 36232773
Variant Present in the following documents:
  • Main text
  • ijms-23-11472.pdf
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: PIK3CA: 1573G>A
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: PIK3CA: 1573G>A; E525K
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Short stature and combined immunodeficiency associated with mutations in RGS10.

Science Signaling
Chinn, Ivan K IK; Xie, Zhihui Z; Chan, Eunice C EC; Nagata, Bianca M BM; Koval, Alexey A; Chen, Wei-Sheng WS; Zhang, Fan F; Ganesan, Sundar S; Hong, Diana N DN; Suzuki, Motoshi M; Nardone, Glenn G; Moore, Ian N IN; Katanaev, Vladimir L VL; Balazs, Andrea E AE; Liu, Chengyu C; Lupski, James R JR; Orange, Jordan S JS; Druey, Kirk M KM
Publication Date: 2021-07-27

Variant appearance in text: PI3K: E525K
PubMed Link: 34315806
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and genetic analysis of immunodeficiency-related diseases associated with PIK3CD mutations.

Pediatric Investigation
Zhang, Qing Q; Ma, Honghao H; Ma, Jie J; Wang, Dong D; Zhao, Yunze Y; Wang, Tianyou T; Li, Zhigang Z; Wu, Runhui R; Zhang, Rui R
Publication Date: 2018-12

Variant appearance in text: PI3K: E525K
PubMed Link: 32851276
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic characterization of malignant progression in neoplastic pancreatic cysts.

Nature Communications
Noë, Michaël M; Niknafs, Noushin N; Fischer, Catherine G CG; Hackeng, Wenzel M WM; Beleva Guthrie, Violeta V; Hosoda, Waki W; Debeljak, Marija M; Papp, Eniko E; Adleff, Vilmos V; White, James R JR; Luchini, Claudio C; Pea, Antonio A; Scarpa, Aldo A; Butturini, Giovanni G; Zamboni, Giuseppe G; Castelli, Paola P; Hong, Seung-Mo SM; Yachida, Shinichi S; Hiraoka, Nobuyoshi N; Gill, Anthony J AJ; Samra, Jaswinder S JS; Offerhaus, G Johan A GJA; Hoorens, Anne A; Verheij, Joanne J; Jansen, Casper C; Adsay, N Volkan NV; Jiang, Wei W; Winter, Jordan J; Albores-Saavedra, Jorge J; Terris, Benoit B; Thompson, Elizabeth D ED; Roberts, Nicholas J NJ; Hruban, Ralph H RH; Karchin, Rachel R; Scharpf, Robert B RB; Brosens, Lodewijk A A LAA; Velculescu, Victor E VE; Wood, Laura D LD
Publication Date: 2020-08-14

Variant appearance in text: PIK3CA: E525K
PubMed Link: 32796935
Variant Present in the following documents:
  • 41467_2020_17917_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



FGFR aberrations increase the risk of brain metastases and predict poor prognosis in metastatic breast cancer patients.

Therapeutic Advances In Medical Oncology
Xie, Ning N; Tian, Can C; Wu, Hui H; Yang, Xiaohong X; Liu, Liping L; Li, Jing J; Xiao, Huawu H; Gao, Jianxiang J; Lu, Jun J; Hu, Xuming X; Cao, Min M; Shui, Zhengrong Z; Tang, Yu Y; Wang, Xiao X; Yang, Jianbo J; Hu, Zhe-Yu ZY; Ouyang, Quchang Q
Publication Date: 2020

Variant appearance in text: PIK3CA: E525K
PubMed Link: 32499836
Variant Present in the following documents:
  • Main text
  • 10.1177_1758835920915305.pdf
View BVdb publication page



Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology
Ewertowska, Marlena M; Grześk, Elżbieta E; Urbańczyk, Anna A; Dąbrowska, Anna A; Bąbol-Pokora, Katarzyna K; Łęcka, Monika M; Kołtan, Sylwia S
Publication Date: 2020

Variant appearance in text: PI3K: E525K
PubMed Link: 32265996
Variant Present in the following documents:
  • Main text
  • 13223_2020_Article_420.pdf
View BVdb publication page



Case Study: Mechanism for Increased Follicular Helper T Cell Development in Activated PI3K Delta Syndrome.

Frontiers In Immunology
Thauland, Timothy J TJ; Pellerin, Laurence L; Ohgami, Robert S RS; Bacchetta, Rosa R; Butte, Manish J MJ
Publication Date: 2019

Variant appearance in text: PI3K: E525K
PubMed Link: 31031754
Variant Present in the following documents:
  • Main text
  • fimmu-10-00753.pdf
View BVdb publication page



Evaluation of Lymphoproliferative Disease and Increased Risk of Lymphoma in Activated Phosphoinositide 3 Kinase Delta Syndrome: A Case Report With Discussion.

Frontiers In Pediatrics
Pham, Michele N MN; Cunningham-Rundles, Charlotte C
Publication Date: 2018

Variant appearance in text: PI3K: E525K
PubMed Link: 30619796
Variant Present in the following documents:
  • Main text
  • fped-06-00402.pdf
View BVdb publication page



Characterization of PIK3CA and PIK3R1 somatic mutations in Chinese breast cancer patients.

Nature Communications
Chen, Li L; Yang, Liu L; Yao, Ling L; Kuang, Xia-Ying XY; Zuo, Wen-Jia WJ; Li, Shan S; Qiao, Feng F; Liu, Yi-Rong YR; Cao, Zhi-Gang ZG; Zhou, Shu-Ling SL; Zhou, Xiao-Yan XY; Yang, Wen-Tao WT; Shi, Jin-Xiu JX; Huang, Wei W; Hu, Xin X; Shao, Zhi-Ming ZM
Publication Date: 2018-04-10

Variant appearance in text: PI3K: E525K
PubMed Link: 29636477
Variant Present in the following documents:
  • 41467_2018_Article_3867.pdf
View BVdb publication page



Phosphoinositide-3-Kinase Signaling in Human Natural Killer Cells: New Insights from Primary Immunodeficiency.

Frontiers In Immunology
Mace, Emily M EM
Publication Date: 2018

Variant appearance in text: PI3K: E525K
PubMed Link: 29563913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.

Frontiers In Immunology
Michalovich, David D; Nejentsev, Sergey S
Publication Date: 2018

Variant appearance in text: PI3K: E525K
PubMed Link: 29535736
Variant Present in the following documents:
  • Main text
  • fimmu-09-00369.pdf
View BVdb publication page



Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.

Blood
Rao, V Koneti VK; Webster, Sharon S; Dalm, Virgil A S H VASH; Šedivá, Anna A; van Hagen, P Martin PM; Holland, Steven S; Rosenzweig, Sergio D SD; Christ, Andreas D AD; Sloth, Birgitte B; Cabanski, Maciej M; Joshi, Aniket D AD; de Buck, Stefan S; Doucet, Julie J; Guerini, Danilo D; Kalis, Christoph C; Pylvaenaeinen, Ilona I; Soldermann, Nicolas N; Kashyap, Anuj A; Uzel, Gulbu G; Lenardo, Michael J MJ; Patel, Dhavalkumar D DD; Lucas, Carrie L CL; Burkhart, Christoph C
Publication Date: 2017-11-23

Variant appearance in text: PI3K: E525K
PubMed Link: 28972011
Variant Present in the following documents:
  • Main text
View BVdb publication page



Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications
Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ
Publication Date: 2017-05-11

Variant appearance in text: PI3K: 1573G>A
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Dornan, Gillian L GL; Siempelkamp, Braden D BD; Jenkins, Meredith L ML; Vadas, Oscar O; Lucas, Carrie L CL; Burke, John E JE
Publication Date: 2017-02-21

Variant appearance in text: PI3K: E525K
PubMed Link: 28167755
Variant Present in the following documents:
  • Main text
View BVdb publication page



PI3Kδ and primary immunodeficiencies.

Nature Reviews. Immunology
Lucas, Carrie L CL; Chandra, Anita A; Nejentsev, Sergey S; Condliffe, Alison M AM; Okkenhaug, Klaus K
Publication Date: 2016-11

Variant appearance in text: PI3K: E525K
PubMed Link: 27616589
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomics of Immune Diseases and New Therapies.

Annual Review Of Immunology
Lenardo, Michael M; Lo, Bernice B; Lucas, Carrie L CL
Publication Date: 2016-05-20

Variant appearance in text: PI3K: E525K
PubMed Link: 26735698
Variant Present in the following documents:
  • Main text
View BVdb publication page



Primary Immunodeficiencies Associated with EBV Disease.

Current Topics In Microbiology And Immunology
Cohen, Jeffrey I JI
Publication Date: 2015

Variant appearance in text: PI3K: E525K
PubMed Link: 26424649
Variant Present in the following documents:
  • Main text
View BVdb publication page



PIK3CA, HRAS and PTEN in human papillomavirus positive oropharyngeal squamous cell carcinoma.

Bmc Cancer
Chiosea, Simion I SI; Grandis, Jennifer R JR; Lui, Vivian W Y VW; Diergaarde, Brenda B; Maxwell, Jessica H JH; Ferris, Robert L RL; Kim, Seungwon W SW; Luvison, Alyssa A; Miller, Megan M; Nikiforova, Marina N MN
Publication Date: 2013-12-17

Variant appearance in text: PIK3CA: 1573G>A
PubMed Link: 24341335
Variant Present in the following documents:
  • Main text
  • 1471-2407-13-602.pdf
View BVdb publication page



Phosphatidylinositol-3-kinase α catalytic subunit gene somatic mutations in bronchopulmonary neuroendocrine tumours.

Oncology Reports
Capodanno, Alessandra A; Boldrini, Laura L; Alì, Greta G; Pelliccioni, Serena S; Mussi, Alfredo A; Fontanini, Gabriella G
Publication Date: 2012-11

Variant appearance in text: PIK3CA: 1573G>A
PubMed Link: 22949056
Variant Present in the following documents:
  • Main text
  • or-28-05-1559.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: PIK3CA: E525K
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page