Publications:

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Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas.

Cancer Medicine

Varadi, Melinda M; Nagy, Nikolett N; Reis, Henning H; Hadaschik, Boris B; Niedworok, Christian C; Modos, Orsolya O; Szendroi, Attila A; Ablat, Jason J; Black, Peter C PC; Keresztes, David D; Csizmarik, Anita A; Olah, Csilla C; Gaisa, Nadine T NT; Kiss, Andras A; Timar, Jozsef J; Toth, Erika E; Csernak, Erzsebet E; Gerstner, Arpad A; Mittal, Vinay V; Karkampouna, Sofia S; Kruithof de Julio, Marianna M; Gyorffy, Balazs B; Bedics, Gabor G; Rink, Michael M; Fisch, Margit M; Nyirady, Peter P; Szarvas, Tibor T

Publication Date: 2023-01-20

Variant appearance in text: PIK3CA: Ala1046Val

PubMed Link: 36670542

Variant Present in the following documents:

• CAM4-12-9041-s001.xlsx, sheet 1
• CAM4-12-9041-s001.xlsx, sheet 2

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Phase Ib Trial of Copanlisib, A Phosphoinositide-3 Kinase (PI3K) Inhibitor, with Trastuzumab in Advanced Pre-Treated HER2-Positive Breast Cancer "PantHER".

Cancers

Keegan, Niamh M NM; Furney, Simon J SJ; Walshe, Janice M JM; Gullo, Giuseppe G; Kennedy, M John MJ; Smith, Diarmuid D; McCaffrey, John J; Kelly, Catherine M CM; Egan, Keith K; Kerr, Jennifer J; Given, Mark M; O'Donovan, Peter P; Hernando, Andres A; Teiserskiene, Ausra A; Parker, Imelda I; Kay, Elaine E; Farrelly, Angela A; Carr, Aoife A; Calzaferri, Giulio G; McDermott, Ray R; Keane, Maccon M MM; Grogan, Liam L; Breathnach, Oscar O; Morris, Patrick G PG; Toomey, Sinead S; Hennessy, Bryan T BT

Publication Date: 2021-03-11

Variant appearance in text: PIK3CA: A1046V

PubMed Link: 33799597

Variant Present in the following documents:

• Main text
• cancers-13-01225.pdf

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Simultaneous targeting of HER family pro-survival signaling with Pan-HER antibody mixture is highly effective in TNBC: a preclinical trial with PDXs.

Breast Cancer Research : Bcr

Reddy, Tejaswini P TP; Choi, Dong S DS; Anselme, Ann C AC; Qian, Wei W; Chen, Wen W; Lantto, Johan J; Horak, Ivan D ID; Kragh, Michael M; Chang, Jenny C JC; Rosato, Roberto R RR

Publication Date: 2020-05-15

Variant appearance in text: PIK3CA: A1046V

PubMed Link: 32414394

Variant Present in the following documents:

• 13058_2020_1280_MOESM1_ESM.pdf

View BVdb publication page

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Proteogenomic Analysis of Protein Sequence Alterations in Breast Cancer Cells.

Scientific Reports

Lazar, Iulia M IM; Karcini, Arba A; Ahuja, Shreya S; Estrada-Palma, Carly C

Publication Date: 2019-07-17

Variant appearance in text: PIK3CA: 3137C>T; A1046V

PubMed Link: 31316139

Variant Present in the following documents:

• 41598_2019_46897_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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The distinct clinicopathological and prognostic implications of PIK3CA mutations in breast cancer patients from Central China.

Cancer Management And Research

Wu, Haibo H; Wang, Wei W; Du, Jun J; Li, Hong H; Wang, Huogang H; Huang, Liangliang L; Xiang, Hang H; Xie, Jing J; Liu, Xiaoli X; Li, Heng H; Lin, Wenchu W

Publication Date: 2019

Variant appearance in text: PIK3CA: Ala1046Val

PubMed Link: 30863158

Variant Present in the following documents:

• Main text
• cmar-11-1473.pdf

View BVdb publication page

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: PIK3CA: A1046V

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd

Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D

Publication Date: 2018-09

Variant appearance in text: PIK3CA: A1046V

PubMed Link: 29936259

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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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: A1046V

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

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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: A1046V

PubMed Link: 29636477

Variant Present in the following documents:

• 41467_2018_3867_MOESM1_ESM.pdf

View BVdb publication page

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Impact of somatic PI3K pathway and ERBB family mutations on pathological complete response (pCR) in HER2-positive breast cancer patients who received neoadjuvant HER2-targeted therapies.

Breast Cancer Research : Bcr

Toomey, Sinead S; Eustace, Alexander J AJ; Fay, Joanna J; Sheehan, Katherine M KM; Carr, Aoife A; Milewska, Malgorzata M; Madden, Stephen F SF; Teiserskiene, Ausra A; Kay, Elaine W EW; O'Donovan, Norma N; Gallagher, William W; Grogan, Liam L; Breathnach, Oscar O; Walshe, Janice J; Kelly, Catherine C; Moulton, Brian B; Kennedy, M John MJ; Gullo, Guiseppe G; Hill, Arnold D AD; Power, Colm C; Duke, Deirdre D; Hambly, Niamh N; Crown, John J; Hennessy, Bryan T BT

Publication Date: 2017-07-27

Variant appearance in text: PIK3CA: A1046V

PubMed Link: 28750640

Variant Present in the following documents:

• Main text
• 13058_2017_Article_883.pdf

View BVdb publication page

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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: A1046V

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

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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: 3137C>T; A1046V

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

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Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.

Oncotarget

Ibarrola-Villava, Maider M; Fleitas, Tania T; Llorca-Cardeñosa, Marta J MJ; Mongort, Cristina C; Alonso, Elisa E; Navarro, Samuel S; Burgues, Octavio O; Vivancos, Ana A; Cejalvo, Juan Miguel JM; Perez-Fidalgo, José Alejandro JA; Roselló, Susana S; Ribas, Gloria G; Cervantes, Andrés A

Publication Date: 2016-04-19

Variant appearance in text: PIK3CA: A1046V

PubMed Link: 26968814

Variant Present in the following documents:

• oncotarget-07-22543-s001.pdf

View BVdb publication page

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Frequency and clinicopathologic profile of PIK3CA mutant GISTs: molecular genetic study of 529 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Lasota, Jerzy J; Felisiak-Golabek, Anna A; Wasag, Bartosz B; Kowalik, Artur A; Zięba, Sebastian S; Chłopek, Małgorzata M; Wang, Zeng-Feng ZF; Coates, Tiffany T; Kopczynski, Janusz J; Gozdz, Stanislaw S; Sarlomo-Rikala, Maarit M; Miettinen, Markku M

Publication Date: 2016-03

Variant appearance in text: PIK3CA: 3137C>T

PubMed Link: 26796526

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phase II Pilot Study of Vemurafenib in Patients With Metastatic BRAF-Mutated Colorectal Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Kopetz, Scott S; Desai, Jayesh J; Chan, Emily E; Hecht, Joel Randolph JR; O'Dwyer, Peter J PJ; Maru, Dipen D; Morris, Van V; Janku, Filip F; Dasari, Arvind A; Chung, Woonbook W; Issa, Jean-Pierre J JP; Gibbs, Peter P; James, Brian B; Powis, Garth G; Nolop, Keith B KB; Bhattacharya, Suman S; Saltz, Leonard L

Publication Date: 2015-12-01

Variant appearance in text: PIK3CA: A1046V

PubMed Link: 26460303

Variant Present in the following documents:

• supp_33.34.4032_DS_2015.632497.pdf

View BVdb publication page

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Triple-negative breast cancer patients treated at MD Anderson Cancer Center in phase I trials: improved outcomes with combination chemotherapy and targeted agents.

Molecular Cancer Therapeutics

Ganesan, Prasanth P; Moulder, Stacy S; Lee, J Jack JJ; Janku, Filip F; Valero, Vicente V; Zinner, Ralph G RG; Naing, Aung A; Fu, Siqing S; Tsimberidou, Apostolia M AM; Hong, David D; Stephen, Bettzy B; Stephens, Philip P; Yelensky, Roman R; Meric-Bernstam, Funda F; Kurzrock, Razelle R; Wheler, Jennifer J JJ

Publication Date: 2014-12

Variant appearance in text: PIK3CA: A1046V

PubMed Link: 25253784

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessing PIK3CA and PTEN in early-phase trials with PI3K/AKT/mTOR inhibitors.

Cell Reports

Janku, Filip F; Hong, David S DS; Fu, Siqing S; Piha-Paul, Sarina A SA; Naing, Aung A; Falchook, Gerald S GS; Tsimberidou, Apostolia M AM; Stepanek, Vanda M VM; Moulder, Stacy L SL; Lee, J Jack JJ; Luthra, Rajyalakshmi R; Zinner, Ralph G RG; Broaddus, Russell R RR; Wheler, Jennifer J JJ; Kurzrock, Razelle R

Publication Date: 2014-01-30

Variant appearance in text: PIK3CA: A1046V

PubMed Link: 24440717

Variant Present in the following documents:

• Main text

View BVdb publication page

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Target-based therapeutic matching in early-phase clinical trials in patients with advanced colorectal cancer and PIK3CA mutations.

Molecular Cancer Therapeutics

Ganesan, Prasanth P; Janku, Filip F; Naing, Aung A; Hong, David S DS; Tsimberidou, Apostolia M AM; Falchook, Gerald S GS; Wheler, Jennifer J JJ; Piha-Paul, Sarina A SA; Fu, Siqing S; Stepanek, Vanda M VM; Lee, J Jack JJ; Luthra, Rajyalakshmi R; Overman, Michael J MJ; Kopetz, E Scott ES; Wolff, Robert A RA; Kurzrock, Razelle R

Publication Date: 2013-12

Variant appearance in text: PIK3CA: A1046V

PubMed Link: 24092809

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: A1046V

PubMed Link: 23066039

Variant Present in the following documents:

• Main text

View BVdb publication page

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Autophagy limits the cytotoxic effects of the AKT inhibitor AZ7328 in human bladder cancer cells.

Cancer Biology & Therapy

Dickstein, Rian J RJ; Nitti, Giovanni G; Dinney, Colin P CP; Davies, Barry R BR; Kamat, Ashish M AM; McConkey, David J DJ

Publication Date: 2012-11

Variant appearance in text: PIK3CA: A1046V

PubMed Link: 22895070

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: A1046V

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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