PIK3CA c.1639G>A ;(p.E547K)

Variant ID: 3-178936097-G-A

NM_006218.2(PIK3CA):c.1639G>A;(p.E547K)

This variant was identified in 29 publications

View GRCh38 version.




Publications:


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: 1639G>A
PubMed Link: 37195967
Variant Present in the following documents:
  • Main text
  • pone.0285413.pdf
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: PIK3CA: 1639G>A; E547K
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2022-10-06

Variant appearance in text: PIK3CA: E547K
PubMed Link: 36202073
Variant Present in the following documents:
  • pat-0090-0166-s01.pdf
View BVdb publication page



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
Publication Date: 2021

Variant appearance in text: PIK3CA: E547K
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Significance of druggable targets (PD-L1, KRAS, BRAF, PIK3CA, MSI, and HPV) on curatively resected esophageal squamous cell carcinoma.

Diagnostic Pathology
Lee, Hong Kyu HK; Kwon, Mi Jung MJ; Ra, Yong Joon YJ; Lee, Hee Sung HS; Kim, Hyoung Soo HS; Nam, Eun Sook ES; Cho, Seong Jin SJ; Park, Hye-Rim HR; Min, Soo Kee SK; Seo, Jinwon J; Choe, Ji-Young JY; Min, Kyueng-Whan KW; Kang, So Young SY
Publication Date: 2020-10-14

Variant appearance in text: PIK3CA: E547K
PubMed Link: 33054840
Variant Present in the following documents:
  • Main text
  • 13000_2020_Article_1045.pdf
View BVdb publication page



Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine
Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y
Publication Date: 2020-08-01

Variant appearance in text: PIK3CA: E547K
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Clinicopathological characteristics and genetic analysis of pulmonary carcinoid tumors: A single-center retrospective cohort study and literature review.

Oncology Letters
Li, Xiongfei X; Hou, Yuelong Y; Shi, Tao T; He, Yue Y; Ren, Dian D; Song, Zuoqing Z; Wei, Sen S; Chen, Gang G; Chen, Jun J; Xu, Song S
Publication Date: 2020-03

Variant appearance in text: PI3K: 1639G>A
PubMed Link: 32194744
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: PIK3CA: E547K
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



PIK3CA H1047R Mutation Associated with a Lower Pathological Complete Response Rate in Triple-Negative Breast Cancer Patients Treated with Anthracycline-Taxane-Based Neoadjuvant Chemotherapy.

Cancer Research And Treatment
Guo, Sanxing S; Loibl, Sibylle S; von Minckwitz, Gunter G; Darb-Esfahani, Silvia S; Lederer, Bianca B; Denkert, Carsten C
Publication Date: 2020-07

Variant appearance in text: PIK3CA: E547K
PubMed Link: 32019278
Variant Present in the following documents:
  • Main text
  • crt-2019-497.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: PIK3CA: 1639G>A; E547K
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine
Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-28

Variant appearance in text: PIK3CA: 1639G>A; Glu547Lys
PubMed Link: 31455347
Variant Present in the following documents:
  • 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: PIK3CA: E547K
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Publication Date: 2018-07-27

Variant appearance in text: PIK3CA: E547K
PubMed Link: 30053901
Variant Present in the following documents:
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 19
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 13
View BVdb publication page



Simultaneous identification of clinically relevant single nucleotide variants, copy number alterations and gene fusions in solid tumors by targeted next-generation sequencing.

Oncotarget
Oliveira, Duarte Mendes DM; Mirante, Teresa T; Mignogna, Chiara C; Scrima, Marianna M; Migliozzi, Simona S; Rocco, Gaetano G; Franco, Renato R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A
Publication Date: 2018-04-27

Variant appearance in text: PIK3CA: E547K
PubMed Link: 29854313
Variant Present in the following documents:
  • Main text
  • oncotarget-09-22749.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: PIK3CA: E547K
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
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: PIK3CA: E547K
PubMed Link: 29636477
Variant Present in the following documents:
  • 41467_2018_Article_3867.pdf
  • 41467_2018_3867_MOESM1_ESM.pdf
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: PIK3CA: 1639G>A; E547K
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
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: PIK3CA: 1639G>A
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



Epstein-Barr virus-associated gastric cancer reveals intratumoral heterogeneity of PIK3CA mutations.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Böger, C C; Krüger, S S; Behrens, H M HM; Bock, S S; Haag, J J; Kalthoff, H H; Röcken, C C
Publication Date: 2017-05-01

Variant appearance in text: PIK3CA: E547K
PubMed Link: 28453696
Variant Present in the following documents:
  • mdx047.pdf
View BVdb publication page



Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Publication Date: 2017-04

Variant appearance in text: PIK3CA: 1639G>A; E547K
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Mutational analysis of primary and metastatic colorectal cancer samples underlying the resistance to cetuximab-based therapy.

Oncotargets And Therapy
Nemecek, Radim R; Berkovcova, Jitka J; Radova, Lenka L; Kazda, Tomas T; Mlcochova, Jitka J; Vychytilova-Faltejskova, Petra P; Slaby, Ondrej O; Svoboda, Marek M
Publication Date: 2016

Variant appearance in text: PIK3CA: E547K
PubMed Link: 27555788
Variant Present in the following documents:
  • Main text
  • ott-9-4695.pdf
View BVdb publication page



PIK3CA mutations are associated with reduced pathological complete response rates in primary HER2-positive breast cancer: pooled analysis of 967 patients from five prospective trials investigating lapatinib and trastuzumab.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Loibl, S S; Majewski, I I; Guarneri, V V; Nekljudova, V V; Holmes, E E; Bria, E E; Denkert, C C; Schem, C C; Sotiriou, C C; Loi, S S; Untch, M M; Conte, P P; Bernards, R R; Piccart, M M; von Minckwitz, G G; Baselga, J J
Publication Date: 2016-08

Variant appearance in text: PIK3CA: E547K
PubMed Link: 27177864
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations.

British Journal Of Cancer
Deb, S S; Wong, S Q SQ; Li, J J; Do, H H; Weiss, J J; Byrne, D D; Chakrabarti, A A; Bosma, T T; , ; Fellowes, A A; Dobrovic, A A; Fox, S B SB
Publication Date: 2014-12-09

Variant appearance in text: PIK3CA: E547K
PubMed Link: 25490678
Variant Present in the following documents:
  • Main text
  • bjc2014511a.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PIK3CA: E547K
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



TP53 and PIK3CA gene mutations in adenocarcinoma, squamous cell carcinoma and high-grade intraepithelial neoplasia of the cervix.

Journal Of Translational Medicine
Tornesello, Maria Lina ML; Annunziata, Clorinda C; Buonaguro, Luigi L; Losito, Simona S; Greggi, Stefano S; Buonaguro, Franco M FM
Publication Date: 2014-09-16

Variant appearance in text: PIK3CA: E547K
PubMed Link: 25220666
Variant Present in the following documents:
  • Main text
  • 12967_2014_Article_255.pdf
View BVdb publication page



PIK3CA mutations are frequently observed in BRCAX but not BRCA2-associated male breast cancer.

Breast Cancer Research : Bcr
Deb, Siddhartha S; Do, Hongdo H; Byrne, David D; Jene, Nicholas N; , ; Dobrovic, Alexander A; Fox, Stephen B SB
Publication Date: 2013

Variant appearance in text: PIK3CA: 1639G>A
PubMed Link: 23971979
Variant Present in the following documents:
  • Main text
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: PI3K: E547K
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: E547K
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page