PIK3CA c.1645G>C ;(p.D549H)

Variant ID: 3-178936103-G-C

NM_006218.2(PIK3CA):c.1645G>C;(p.D549H)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


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: D549H
PubMed Link: 36595567
Variant Present in the following documents:
  • ccr-22-2270_supplementary_tables_s1-14_suppts1-14.xlsx, sheet 12
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Integrated cohort of esophageal squamous cell cancer reveals genomic features underlying clinical characteristics.

Nature Communications
Li, Minghao M; Zhang, Zicheng Z; Wang, Qianrong Q; Yi, Yan Y; Li, Baosheng B
Publication Date: 2022-09-07

Variant appearance in text: PIK3CA: D549H
PubMed Link: 36071046
Variant Present in the following documents:
  • 41467_2022_32962_MOESM15_ESM.xlsx, sheet 22
View BVdb publication page



The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)
Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q
Publication Date: 2022-10

Variant appearance in text: PIK3CA: D549H
PubMed Link: 35926241
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: PIK3CA: 1645G>C; D549H
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports
Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C
Publication Date: 2022-02-09

Variant appearance in text: PIK3CA: D549H
PubMed Link: 35140316
Variant Present in the following documents:
  • 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports
Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C
Publication Date: 2022-02-09

Variant appearance in text: PIK3CA: D549H
PubMed Link: 35140316
Variant Present in the following documents:
  • 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Detection of PIK3CA Gene Mutation in Head and Neck Squamous Cell Carcinoma Using Droplet Digital PCR and RT-qPCR.

Biomolecules
Borkowska, Edyta M EM; Barańska, Magda M; Kowalczyk, Magdalena M; Pietruszewska, Wioletta W
Publication Date: 2021-05-31

Variant appearance in text: PIK3CA: D549H
PubMed Link: 34072735
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: PIK3CA: 1645G>C; D549H
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: PIK3CA: 1645G>C; D549H
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Ebiomedicine
Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M
Publication Date: 2020-11

Variant appearance in text: PIK3CA: 1645G>C; D549H
PubMed Link: 33096476
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: PIK3CA: D549H
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: PIK3CA: D549H
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.

Nature Communications
Yan, Ting T; Cui, Heyang H; Zhou, Yong Y; Yang, Bin B; Kong, Pengzhou P; Zhang, Yingchun Y; Liu, Yiqian Y; Wang, Bin B; Cheng, Yikun Y; Li, Jiayi J; Guo, Shixing S; Xu, Enwei E; Liu, Huijuan H; Cheng, Caixia C; Zhang, Ling L; Chen, Ling L; Zhuang, Xiaofei X; Qian, Yu Y; Yang, Jian J; Ma, Yanchun Y; Li, Hongyi H; Wang, Fang F; Liu, Jing J; Liu, Xuefeng X; Su, Dan D; Wang, Yan Y; Sun, Ruifang R; Guo, Shiping S; Li, Yaoping Y; Cheng, Xiaolong X; Liu, Zhihua Z; Zhan, Qimin Q; Cui, Yongping Y
Publication Date: 2019-04-11

Variant appearance in text: PIK3CA: 1645G>C; D549H
PubMed Link: 30975989
Variant Present in the following documents:
  • 41467_2019_9255_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



PIK3CA mutations are frequent in esophageal squamous cell carcinoma associated with chagasic megaesophagus and are associated with a worse patient outcome.

Infectious Agents And Cancer
Munari, Fernanda Franco FF; Cruvinel-Carloni, Adriana A; Lacerda, Croider Franco CF; de Oliveira, Antônio Talvane Torres ATT; Scapulatempo-Neto, Cristovam C; da Silva, Sandra Regina Morini SRM; Crema, Eduardo E; Adad, Sheila Jorge SJ; Rodrigues, Maria Aparecida Marchesan MAM; Henry, Maria Aparecida Coelho Arruda MACA; Guimarães, Denise Peixoto DP; Longatto-Filho, Adhemar A; Reis, Rui Manuel RM
Publication Date: 2018

Variant appearance in text: PIK3CA: D549H
PubMed Link: 30619505
Variant Present in the following documents:
  • Main text
  • 13027_2018_Article_216.pdf
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: D549H
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

Plos One
de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP
Publication Date: 2016

Variant appearance in text: PIK3CA: D549H
PubMed Link: 26919633
Variant Present in the following documents:
  • pone.0149405.s010.xlsx, sheet 2
View BVdb publication page



Genome Analysis of Latin American Cervical Cancer: Frequent Activation of the PIK3CA Pathway.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Lou, Hong H; Villagran, Guillermo G; Boland, Joseph F JF; Im, Kate M KM; Polo, Sarita S; Zhou, Weiyin W; Odey, Ushie U; Juárez-Torres, Eligia E; Medina-Martínez, Ingrid I; Roman-Basaure, Edgar E; Mitchell, Jason J; Roberson, David D; Sawitzke, Julie J; Garland, Lisa L; Rodríguez-Herrera, Maria M; Wells, David D; Troyer, Jennifer J; Pinto, Francisco Castillo FC; Bass, Sara S; Zhang, Xijun X; Castillo, Miriam M; Gold, Bert B; Morales, Hesler H; Yeager, Meredith M; Berumen, Jaime J; Alvirez, Enrique E; Gharzouzi, Eduardo E; Dean, Michael M
Publication Date: 2015-12-01

Variant appearance in text: PIK3CA: D549H
PubMed Link: 26080840
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted PI3K/AKT/mTOR therapy for metastatic carcinomas of the cervix: A phase I clinical experience.

Oncotarget
Hou, Ming-Mo MM; Liu, Xiaochun X; Wheler, Jennifer J; Naing, Aung A; Hong, David D; Coleman, Robert L RL; Tsimberidou, Apostolia A; Janku, Filip F; Zinner, Ralph R; Lu, Karen K; Kurzrock, Razelle R; Fu, Siqing S
Publication Date: 2014-11-30

Variant appearance in text: PIK3CA: D549H
PubMed Link: 25426553
Variant Present in the following documents:
  • Main text
  • oncotarget-05-11168.pdf
View BVdb publication page



PIK3CA mutations in advanced cancers: characteristics and outcomes.

Oncotarget
Janku, Filip F; Wheler, Jennifer J JJ; Naing, Aung A; Stepanek, Vanda M VM; Falchook, Gerald S GS; Fu, Siqing S; Garrido-Laguna, Ignacio I; Tsimberidou, Apostolia M AM; Piha-Paul, Sarina A SA; Moulder, Stacy L SL; Lee, Jack J JJ; Luthra, Rajyalakshmi R; Hong, David S DS; Kurzrock, Razelle R
Publication Date: 2012-12

Variant appearance in text: PIK3CA: D549H
PubMed Link: 23248156
Variant Present in the following documents:
  • oncotarget-03-1566.pdf
View BVdb publication page



PIK3CA mutation H1047R is associated with response to PI3K/AKT/mTOR signaling pathway inhibitors in early-phase clinical trials.

Cancer Research
Janku, Filip F; Wheler, Jennifer J JJ; Naing, Aung A; Falchook, Gerald S GS; Hong, David S DS; Stepanek, Vanda M VM; Fu, Siqing S; Piha-Paul, Sarina A SA; Lee, J Jack JJ; Luthra, Rajyalakshmi R; Tsimberidou, Apostolia M AM; Kurzrock, Razelle R
Publication Date: 2013-01-01

Variant appearance in text: PIK3CA: D549H
PubMed Link: 23066039
Variant Present in the following documents:
  • Main text
View BVdb publication page



PI3K/AKT/mTOR inhibitors in patients with breast and gynecologic malignancies harboring PIK3CA mutations.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Janku, Filip F; Wheler, Jennifer J JJ; Westin, Shannon N SN; Moulder, Stacy L SL; Naing, Aung A; Tsimberidou, Apostolia M AM; Fu, Siqing S; Falchook, Gerald S GS; Hong, David S DS; Garrido-Laguna, Ignacio I; Luthra, Rajyalakshmi R; Lee, J Jack JJ; Lu, Karen H KH; Kurzrock, Razelle R
Publication Date: 2012-03-10

Variant appearance in text: PIK3CA: D549H
PubMed Link: 22271473
Variant Present in the following documents:
  • Main text
View BVdb publication page