PIK3CA c.1636C>T ;(p.Q546*)

Variant ID: 3-178936094-C-T

NM_006218.2(PIK3CA):c.1636C>T;(p.Q546*)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


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: Q546x
PubMed Link: 36428975
Variant Present in the following documents:
  • cells-11-03545.pdf
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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: Q546X
PubMed Link: 36188485
Variant Present in the following documents:
  • Main text
  • 10.1177_17588359221110162.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: 1636C>T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
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: Q546x
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: Q546X
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: Q546*
PubMed Link: 35357905
Variant Present in the following documents:
  • Main text
  • po-6-e2100370.pdf
View BVdb publication page



Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients.

Journal Of Clinical Medicine
Lee, Seung Woo SW; Lee, Taekyu T; Sul, Hae Jung HJ; Park, Ki Cheol KC; Park, Joonhong J
Publication Date: 2021-05-10

Variant appearance in text: PIK3CA: 1636C>T; Gln546*
PubMed Link: 34068652
Variant Present in the following documents:
  • Main text
  • jcm-10-02038.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: Q546X
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: Q546X
PubMed Link: 33707948
Variant Present in the following documents:
  • Main text
  • tcrm-17-193.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: Q546X
PubMed Link: 32697890
Variant Present in the following documents:
  • Main text
  • CAM4-9-6463.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: Q546X
PubMed Link: 31934607
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Scientific Reports
Ticha, Ivana I; Hojny, Jan J; Michalkova, Romana R; Kodet, Ondrej O; Krkavcova, Eva E; Hajkova, Nikola N; Nemejcova, Kristyna K; Bartu, Michaela M; Jaksa, Radek R; Dura, Miroslav M; Kanwal, Madiha M; Martinikova, Andra S AS; Macurek, Libor L; Zemankova, Petra P; Kleibl, Zdenek Z; Dundr, Pavel P
Publication Date: 2019-11-19

Variant appearance in text: PIK3CA: 1636C>T
PubMed Link: 31745173
Variant Present in the following documents:
  • 41598_2019_53636_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Cold Spring Harbor Molecular Case Studies
Thibodeau, My Linh ML; Zhao, Eric Y EY; Reisle, Caralyn C; Ch'ng, Carolyn C; Wong, Hui-Li HL; Shen, Yaoqing Y; Jones, Martin R MR; Lim, Howard J HJ; Young, Sean S; Cremin, Carol C; Pleasance, Erin E; Zhang, Wei W; Holt, Robert R; Eirew, Peter P; Karasinska, Joanna J; Kalloger, Steve E SE; Taylor, Greg G; Majounie, Elisa E; Bonakdar, Melika M; Zong, Zusheng Z; Bleile, Dustin D; Chiu, Readman R; Birol, Inanc I; Gelmon, Karen K; Lohrisch, Caroline C; Mungall, Karen L KL; Mungall, Andrew J AJ; Moore, Richard R; Ma, Yussanne P YP; Fok, Alexandra A; Yip, Stephen S; Karsan, Aly A; Huntsman, David D; Schaeffer, David F DF; Laskin, Janessa J; Marra, Marco A MA; Renouf, Daniel J DJ; Jones, Steven J M SJM; Schrader, Kasmintan A KA
Publication Date: 2019-04

Variant appearance in text: PIK3CA: Q546*
PubMed Link: 30833417
Variant Present in the following documents:
  • supp_mcs.a003681_Supplemental_Table_S4_patient3.xlsx, sheet 3
View BVdb publication page



Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21

Variant appearance in text: PIK3CA: 1636C>T
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 5
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: Q546X
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: Q546X
PubMed Link: 29707142
Variant Present in the following documents:
  • Main text
  • oncotarget-09-17711.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: Q546*
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 1
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: Q546x
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: Q546X
PubMed Link: 29207615
Variant Present in the following documents:
  • Main text
  • oncotarget-08-90948.pdf
  • oncotarget-08-90948-s001.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: Gln546X
PubMed Link: 28800861
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: 1636C>T
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
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: Q546X
PubMed Link: 28330468
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3185.pdf
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: PIK3CA: Q546X
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s013.xlsx, sheet 3
  • pone.0127146.s014.xlsx, sheet 3
View BVdb publication page



Panel based MALDI-TOF tumour profiling is a sensitive method for detecting mutations in clinical non small cell lung cancer tumour.

Plos One
Sherwood, James L JL; Müller, Susanne S; Orr, Maria C M MC; Ratcliffe, Marianne J MJ; Walker, Jill J
Publication Date: 2014

Variant appearance in text: PIK3CA: Q546*
PubMed Link: 24956168
Variant Present in the following documents:
  • Main text
  • pone.0100566.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: Q546X
PubMed Link: 24658394
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted biomarker profiling of matched primary and metastatic estrogen receptor positive breast cancers.

Plos One
Schleifman, Erica B EB; Desai, Rupal R; Spoerke, Jill M JM; Xiao, Yuanyuan Y; Wong, Cheryl C; Abbas, Ilma I; O'Brien, Carol C; Patel, Rajesh R; Sumiyoshi, Teiko T; Fu, Ling L; Tam, Rachel N RN; Koeppen, Hartmut H; Wilson, Timothy R TR; Raja, Rajiv R; Hampton, Garret M GM; Lackner, Mark R MR
Publication Date: 2014

Variant appearance in text: PIK3CA: Q546X
PubMed Link: 24520381
Variant Present in the following documents:
  • Main text
  • pone.0088401.pdf
View BVdb publication page