PIK3CA c.3139_3141delinsTAA ;(p.H1047*)

Variant ID: 3-178952084-CAT-TAA

NM_006218.2(PIK3CA):c.3139_3141delinsTAA;(p.H1047*)

This variant was identified in 32 publications

View GRCh38 version.




Publications:


Analysis of Circulating Tumor DNA in Synchronous Metastatic Colorectal Cancer at Diagnosis Predicts Overall Patient Survival.

International Journal Of Molecular Sciences
Sayagués, José María JM; Montero, Juan Carlos JC; Jiménez-Pérez, Andrea A; Del Carmen, Sofía S; Rodríguez, Marta M; Vidal Tocino, Rosario R; Montero, Enrique E; Sanz, Julia J; Abad, Mar M
Publication Date: 2023-05-08

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 37176143
Variant Present in the following documents:
  • ijms-24-08438.pdf
View BVdb publication page



Genetic heterogeneity and tissue-specific patterns of tumors with multiple PIK3CA mutations.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Sivakumar, Smruthy S; Jin, Dexter X DX; Rathod, Ruchita R; Ross, Jeffrey J; Cantley, Lewis C LC; Scaltriti, Maurizio M; Chen, Jessica W JW; Hutchinson, Katherine E KE; Wilson, Timothy R TR; Sokol, Ethan S ES; Vasan, Neil N
Publication Date: 2023-01-03

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 36595567
Variant Present in the following documents:
  • Main text
  • 1125.pdf
View BVdb publication page



Abemaciclib plus fulvestrant for the treatment of hormone receptor-positive/human epidermal growth factor receptor 2-negative breast cancer with cystic brain metastases: A case report and literature review.

Frontiers In Oncology
Chu, Zhaohui Z
Publication Date: 2022

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 36531067
Variant Present in the following documents:
  • Main text
  • fonc-12-984454.pdf
View BVdb publication page



Analytical Performance of Next-Generation Sequencing and RT-PCR on Formalin-Fixed Paraffin-Embedded Tumor Tissues for PIK3CA Testing in HR+/HER2- Breast Cancer.

Cells
Venetis, Konstantinos K; Pepe, Francesco F; Munzone, Elisabetta E; Sajjadi, Elham E; Russo, Gianluca G; Pisapia, Pasquale P; Ivanova, Mariia M; Bonizzi, Giuseppina G; Vacirca, Davide D; Rappa, Alessandra A; Ranghiero, Alberto A; Taormina, Sergio Vincenzo SV; Viale, Giuseppe G; Troncone, Giancarlo G; Barberis, Massimo M; Guerini-Rocco, Elena E; Malapelle, Umberto U; Fusco, Nicola N
Publication Date: 2022-11-09

Variant appearance in text: PIK3CA: H1047x
PubMed Link: 36428975
Variant Present in the following documents:
  • cells-11-03545.pdf
View BVdb publication page



The diagnostic accuracy of PIK3CA mutations by circulating tumor DNA in breast cancer: an individual patient data meta-analysis.

Therapeutic Advances In Medical Oncology
Galvano, Antonio A; Castellana, Luisa L; Gristina, Valerio V; La Mantia, Maria M; Insalaco, Lavinia L; Barraco, Nadia N; Perez, Alessandro A; Cutaia, Sofia S; Calò, Valentina V; Bazan Russo, Tancredi Didier TD; Francini, Edoardo E; Incorvaia, Lorena L; Mirisola, Mario Giuseppe MG; Vieni, Salvatore S; Rolfo, Christian C; Bazan, Viviana V; Russo, Antonio A
Publication Date: 2022

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 36188485
Variant Present in the following documents:
  • Main text
View BVdb publication page



PIK3CA Mutation is Associated with Poor Response to HER2-Targeted Therapy in Breast Cancer Patients.

Cancer Research And Treatment
Kim, Ju Won JW; Lim, Ah Reum AR; You, Ji Young JY; Lee, Jung Hyun JH; Song, Sung Eun SE; Lee, Nam Kwon NK; Jung, Seung Pil SP; Cho, Kyu Ran KR; Kim, Cheol Yong CY; Park, Kyong Hwa KH
Publication Date: 2022-09-07

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 36097803
Variant Present in the following documents:
  • Main text
  • crt-2022-221.pdf
View BVdb publication page



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
Publication Date: 2022-06-18

Variant appearance in text: PIK3CA: H1047x
PubMed Link: 35740668
Variant Present in the following documents:
  • cancers-14-03003.pdf
View BVdb publication page



Fulvestrant plus capivasertib versus placebo after relapse or progression on an aromatase inhibitor in metastatic, oestrogen receptor-positive, HER2-negative breast cancer (FAKTION): overall survival, updated progression-free survival, and expanded biomarker analysis from a randomised, phase 2 trial.

The Lancet. Oncology
Howell, Sacha J SJ; Casbard, Angela A; Carucci, Margherita M; Ingarfield, Kate K; Butler, Rachel R; Morgan, Sian S; Meissner, Magdalena M; Bale, Catherine C; Bezecny, Pavel P; Moon, Sarah S; Twelves, Chris C; Venkitaraman, Ramachandran R; Waters, Simon S; de Bruin, Elza C EC; Schiavon, Gaia G; Foxley, Andrew A; Jones, Robert H RH
Publication Date: 2022-07

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 35671774
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



PIK3CA Mutations Drive Therapeutic Resistance in Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer.

Jco Precision Oncology
Rasti, Aryana R AR; Guimaraes-Young, Amy A; Datko, Farrah F; Borges, Virginia F VF; Aisner, Dara L DL; Shagisultanova, Elena E
Publication Date: 2022-03

Variant appearance in text: PIK3CA: H1047*
PubMed Link: 35357905
Variant Present in the following documents:
  • Main text
  • po-6-e2100370.pdf
View BVdb publication page



Phase 2 study of TAS-117, an allosteric akt inhibitor in advanced solid tumors harboring phosphatidylinositol 3-kinase/v-akt murine thymoma viral oncogene homolog gene mutations.

Investigational New Drugs
Lee, Jii Bum JB; Jung, Minkyu M; Beom, Seung Hoon SH; Kim, Gun Min GM; Kim, Hye Ryun HR; Choi, Hye Jin HJ; Sohn, Joo Hyuk JH; Ahn, Joong Bae JB; Rha, Sun Young SY; Chung, Hyun Cheol HC
Publication Date: 2021-10

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 33723724
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of Alpelisib in the Treatment of PIK3CA-Mutated Breast Cancer: Patient Selection and Clinical Perspectives.

Therapeutics And Clinical Risk Management
Chang, Dwan-Ying DY; Ma, Wei-Li WL; Lu, Yen-Shen YS
Publication Date: 2021

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 33707948
Variant Present in the following documents:
  • Main text
  • tcrm-17-193.pdf
View BVdb publication page



Clinicopathological Correlates of γδ T Cell Infiltration in Triple-Negative Breast Cancer.

Cancers
Boissière-Michot, Florence F; Chabab, Ghita G; Mollevi, Caroline C; Guiu, Séverine S; Lopez-Crapez, Evelyne E; Ramos, Jeanne J; Bonnefoy, Nathalie N; Lafont, Virginie V; Jacot, William W
Publication Date: 2021-02-12

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 33673133
Variant Present in the following documents:
  • Main text
  • cancers-13-00765.pdf
View BVdb publication page



Testing considerations for phosphatidylinositol-3-kinase catalytic subunit alpha as an emerging biomarker in advanced breast cancer.

Cancer Medicine
Toppmeyer, Deborah L DL; Press, Michael F MF
Publication Date: 2020-09

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 32697890
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterizations of Cancer Gene Mutations in Chinese Metastatic Breast Cancer Patients.

Frontiers In Oncology
Tao, Zhonghua Z; Li, Ting T; Feng, Zhe Z; Liu, Chang C; Shao, Yilin Y; Zhu, Mingyu M; Gong, Chengcheng C; Wang, Biyun B; Cao, Jun J; Wang, Leipin L; Du, Yiqun Y; Lizaso, Analyn A; Li, Bing B; Zhang, Jian J; Hu, Xichun X
Publication Date: 2020

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 32695676
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer.

International Journal Of Breast Cancer
Anderson, Elizabeth J EJ; Mollon, Lea E LE; Dean, Joni L JL; Warholak, Terri L TL; Aizer, Ayal A; Platt, Emma A EA; Tang, Derek H DH; Davis, Lisa E LE
Publication Date: 2020

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 32637176
Variant Present in the following documents:
  • Main text
  • IJBC2020-3759179.pdf
View BVdb publication page



Phase II evaluation of copanlisib, a selective inhibitor of Pi3kca, in patients with persistent or recurrent endometrial carcinoma harboring PIK3CA hotspot mutations: An NRG Oncology study (NRG-GY008).

Gynecologic Oncology Reports
Santin, Alessandro D AD; Filiaci, Virginia V; Bellone, Stefania S; Ratner, Elena S ES; Mathews, Cara A CA; Cantuaria, Guilherme G; Gunderson, Camille C CC; Rutledge, Teresa T; Buttin, Barbara M BM; Lankes, Heather A HA; Frumovitz, Michael M; Khleif, Samir N SN; Huh, Warner K WK; Birrer, Michael J MJ
Publication Date: 2020-02

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 31934607
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Phase II Study of Taselisib (GDC-0032) in Combination with Fulvestrant in Patients with HER2-Negative, Hormone Receptor-Positive Advanced Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Dickler, Maura N MN; Saura, Cristina C; Richards, Donald A DA; Krop, Ian E IE; Cervantes, Andrés A; Bedard, Philippe L PL; Patel, Manish R MR; Pusztai, Lajos L; Oliveira, Mafalda M; Cardenas, Alison K AK; Cui, Na N; Wilson, Timothy R TR; Stout, Thomas J TJ; Wei, Michael C MC; Hsu, Jerry Y JY; Baselga, José J
Publication Date: 2018-09-15

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 29793946
Variant Present in the following documents:
  • Main text
View BVdb publication page



PIK3CA mutation, reduced AKT serine 473 phosphorylation, and increased ERα serine 167 phosphorylation are positive prognostic indicators in postmenopausal estrogen receptor-positive early breast cancer.

Oncotarget
Ishida, Naoko N; Baba, Motoi M; Hatanaka, Yutaka Y; Hagio, Kanako K; Okada, Hiromi H; Hatanaka, Kanako C KC; Togashi, Kenichi K; Matsuno, Yoshihiro Y; Yamashita, Hiroko H
Publication Date: 2018-04-03

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 29707142
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative Kinome Profiling Identifies mTORC1/2 Inhibition as Treatment Strategy in Ovarian Clear Cell Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Caumanns, Joseph J JJ; Berns, Katrien K; Wisman, G Bea A GBA; Fehrmann, Rudolf S N RSN; Tomar, Tushar T; Klip, Harry H; Meersma, Gert J GJ; Hijmans, E Marielle EM; Gennissen, Annemiek M C AMC; Duiker, Evelien W EW; Weening, Desiree D; Itamochi, Hiroaki H; Kluin, Roelof J C RJC; Reyners, Anna K L AKL; Birrer, Michael J MJ; Salvesen, Helga B HB; Vergote, Ignace I; van Nieuwenhuysen, Els E; Brenton, James J; Braicu, E Ioana EI; Kupryjanczyk, Jolanta J; Spiewankiewicz, Beata B; Mittempergher, Lorenza L; Bernards, René R; van der Zee, Ate G J AGJ; de Jong, Steven S
Publication Date: 2018-08-15

Variant appearance in text: PIK3CA: H1047*
PubMed Link: 29685880
Variant Present in the following documents:
  • Main text
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: H1047*
PubMed Link: 29636477
Variant Present in the following documents:
  • 41467_2018_3867_MOESM2_ESM.pdf
View BVdb publication page



Clinical significance of plasma cell-free DNA mutations in PIK3CA, AKT1, and ESR1 gene according to treatment lines in ER-positive breast cancer.

Molecular Cancer
Takeshita, Takashi T; Yamamoto, Yutaka Y; Yamamoto-Ibusuki, Mutsuko M; Tomiguchi, Mai M; Sueta, Aiko A; Murakami, Keiichi K; Iwase, Hirotaka H
Publication Date: 2018-02-26

Variant appearance in text: PIK3CA: H1047x
PubMed Link: 29482551
Variant Present in the following documents:
  • Main text
  • 12943_2018_Article_808.pdf
View BVdb publication page



PIK3CA mutations are associated with increased tumor aggressiveness and Akt activation in gastric cancer.

Oncotarget
Kim, Ji-Won JW; Lee, Hye Seung HS; Nam, Kyung Han KH; Ahn, Soyeon S; Kim, Jin Won JW; Ahn, Sang-Hoon SH; Park, Do Joong DJ; Kim, Hyung-Ho HH; Lee, Keun-Wook KW
Publication Date: 2017-10-31

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 29207615
Variant Present in the following documents:
  • Main text
  • oncotarget-08-90948-s001.pdf
  • oncotarget-08-90948.pdf
View BVdb publication page



Comprehensive genomic profiling of lung cancer using a validated panel to explore therapeutic targets in East Asian patients.

Cancer Science
Liu, Liping L; Liu, Jilong J; Shao, Di D; Deng, Qiuhua Q; Tang, Hailing H; Liu, Zu Z; Chen, Xuewei X; Guo, Fengming F; Lin, Yongping Y; Mao, Mao M; Kristiansen, Karsten K; Ye, Mingzhi M; He, Jianxing J
Publication Date: 2017-12

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 28949084
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of ESR1 and PIK3CA mutations in plasma cell-free DNA from ER-positive breast cancer patients.

Oncotarget
Takeshita, Takashi T; Yamamoto, Yutaka Y; Yamamoto-Ibusuki, Mutsuko M; Tomiguchi, Mai M; Sueta, Aiko A; Murakami, Keiichi K; Omoto, Yoko Y; Iwase, Hirotaka H
Publication Date: 2017-08-08

Variant appearance in text: PIK3CA: H1047x
PubMed Link: 28881720
Variant Present in the following documents:
  • Main text
  • oncotarget-08-52142.pdf
View BVdb publication page



Ipatasertib plus paclitaxel versus placebo plus paclitaxel as first-line therapy for metastatic triple-negative breast cancer (LOTUS): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.

The Lancet. Oncology
Kim, Sung-Bae SB; Dent, Rebecca R; Im, Seock-Ah SA; Espié, Marc M; Blau, Sibel S; Tan, Antoinette R AR; Isakoff, Steven J SJ; Oliveira, Mafalda M; Saura, Cristina C; Wongchenko, Matthew J MJ; Kapp, Amy V AV; Chan, Wai Y WY; Singel, Stina M SM; Maslyar, Daniel J DJ; Baselga, José J; ,
Publication Date: 2017-10

Variant appearance in text: PIK3CA: His1047X
PubMed Link: 28800861
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tumor burden monitoring using cell-free tumor DNA could be limited by tumor heterogeneity in advanced breast cancer and should be evaluated together with radiographic imaging.

Bmc Cancer
García-Saenz, José Angel JA; Ayllón, Patricia P; Laig, Marion M; Acosta-Eyzaguirre, Daniel D; García-Esquinas, Marta M; Montes, Myriam M; Sanz, Julián J; Barquín, Miguel M; Moreno, Fernando F; Garcia-Barberan, Vanesa V; Díaz-Rubio, Eduardo E; Caldes, Trinidad T; Romero, Atocha A
Publication Date: 2017-03-22

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 28330468
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3185.pdf
View BVdb publication page



High EGFR protein expression and exon 9 PIK3CA mutations are independent prognostic factors in triple negative breast cancers.

Bmc Cancer
Jacot, William W; Mollevi, Caroline C; Fina, Frédéric F; Lopez-Crapez, Evelyne E; Martin, Pierre-Marie PM; Colombo, Pierre-Emmanuel PE; Bibeau, Frédéric F; Romieu, Gilles G; Lamy, Pierre-Jean PJ
Publication Date: 2015-12-18

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 26680641
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1977.pdf
View BVdb publication page



Analysis of PIK3CA Mutations and Activation Pathways in Triple Negative Breast Cancer.

Plos One
Cossu-Rocca, Paolo P; Orrù, Sandra S; Muroni, Maria Rosaria MR; Sanges, Francesca F; Sotgiu, Giovanni G; Ena, Sara S; Pira, Giovanna G; Murgia, Luciano L; Manca, Alessandra A; Uras, Maria Gabriela MG; Sarobba, Maria Giuseppina MG; Urru, Silvana S; De Miglio, Maria Rosaria MR
Publication Date: 2015

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 26540293
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics of EGFR-targeted therapies in non-small cell lung cancer: EGFR and beyond.

Chinese Journal Of Cancer
Delaney, Christopher C; Frank, Samuel S; Huang, R Stephanie RS
Publication Date: 2015-04-08

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 25962919
Variant Present in the following documents:
  • Main text
  • 40880_2015_Article_7.pdf
View BVdb publication page



Next generation MUT-MAP, a high-sensitivity high-throughput microfluidics chip-based mutation analysis panel.

Plos One
Schleifman, Erica B EB; Tam, Rachel R; Patel, Rajesh R; Tsan, Alison A; Sumiyoshi, Teiko T; Fu, Ling L; Desai, Rupal R; Schoenbrunner, Nancy N; Myers, Thomas W TW; Bauer, Keith K; Smith, Edward E; Raja, Rajiv R
Publication Date: 2014

Variant appearance in text: PIK3CA: H1047X
PubMed Link: 24658394
Variant Present in the following documents:
  • Main text
  • pone.0090761.pdf
View BVdb publication page