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PIK3CA NP_006209.2:p.E542X

MedGen UID:
821306
•Concept ID:
C3828558
•
Cell or Molecular Dysfunction
Synonyms: NP_006209.2:p.Glu542Xxx; p110alpha E542X; Phosphatidylinositol-4,5-Bisphosphate 3-Kinase 110 kDa Catalytic Subunit Alpha E542X; Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha Isoform E542X; Phosphoinositide-3-Kinase Catalytic Alpha Polypeptide E542X; PI3Kalpha E542X; PIK3CA E542 Mutation; PIK3CA E542X; PIK3CA Glu542Xxx; PIK3CA NP_006209.2:p.Glu542Xxx; PIK3CA p.E542X; PIK3CA p.Glu542Xxx

Definition

A change in the amino acid residue at position 542 in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha isoform protein where glutamic acid has been replaced by another amino acid. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPIK3CA NP_006209.2:p.E542X

Recent clinical studies

Etiology

Generalizable biomarker prediction from cancer pathology slides with self-supervised deep learning: A retrospective multi-centric study.
Niehues JM, Quirke P, West NP, Grabsch HI, van Treeck M, Schirris Y, Veldhuizen GP, Hutchins GGA, Richman SD, Foersch S, Brinker TJ, Fukuoka J, Bychkov A, Uegami W, Truhn D, Brenner H, Brobeil A, Hoffmeister M, Kather JN
Cell Rep Med 2023 Apr 18;4(4):100980. Epub 2023 Mar 22 doi: 10.1016/j.xcrm.2023.100980. PMID: 36958327Free PMC Article
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E, Annaratone L, Bellomo SE, Ferrero G, Gagliardi A, Bragoni A, Grassini D, Guarrera S, Parlato C, Casorzo L, Panero M, Sarotto I, Giordano S, Cereda M, Montemurro F, Ponzone R, Crosetto N, Naccarati A, Sapino A, Marchiò C
Genome Med 2022 Aug 29;14(1):98. doi: 10.1186/s13073-022-01104-z. PMID: 36038884Free PMC Article
Toxicological effects of polystyrene nanoplastics and perfluorooctanoic acid to Gambusia affinis.
Liu S, Yan L, Zhang Y, Junaid M, Wang J
Fish Shellfish Immunol 2022 Aug;127:1100-1112. Epub 2022 Jul 11 doi: 10.1016/j.fsi.2022.06.064. PMID: 35835386
Cancer-Associated Mutations in Endometriosis without Cancer.
Anglesio MS, Papadopoulos N, Ayhan A, Nazeran TM, Noë M, Horlings HM, Lum A, Jones S, Senz J, Seckin T, Ho J, Wu RC, Lac V, Ogawa H, Tessier-Cloutier B, Alhassan R, Wang A, Wang Y, Cohen JD, Wong F, Hasanovic A, Orr N, Zhang M, Popoli M, McMahon W, Wood LD, Mattox A, Allaire C, Segars J, Williams C, Tomasetti C, Boyd N, Kinzler KW, Gilks CB, Diaz L, Wang TL, Vogelstein B, Yong PJ, Huntsman DG, Shih IM
N Engl J Med 2017 May 11;376(19):1835-1848. doi: 10.1056/NEJMoa1614814. PMID: 28489996Free PMC Article
Tracking the Evolution of Non-Small-Cell Lung Cancer.
Jamal-Hanjani M, Wilson GA, McGranahan N, Birkbak NJ, Watkins TBK, Veeriah S, Shafi S, Johnson DH, Mitter R, Rosenthal R, Salm M, Horswell S, Escudero M, Matthews N, Rowan A, Chambers T, Moore DA, Turajlic S, Xu H, Lee SM, Forster MD, Ahmad T, Hiley CT, Abbosh C, Falzon M, Borg E, Marafioti T, Lawrence D, Hayward M, Kolvekar S, Panagiotopoulos N, Janes SM, Thakrar R, Ahmed A, Blackhall F, Summers Y, Shah R, Joseph L, Quinn AM, Crosbie PA, Naidu B, Middleton G, Langman G, Trotter S, Nicolson M, Remmen H, Kerr K, Chetty M, Gomersall L, Fennell DA, Nakas A, Rathinam S, Anand G, Khan S, Russell P, Ezhil V, Ismail B, Irvin-Sellers M, Prakash V, Lester JF, Kornaszewska M, Attanoos R, Adams H, Davies H, Dentro S, Taniere P, O'Sullivan B, Lowe HL, Hartley JA, Iles N, Bell H, Ngai Y, Shaw JA, Herrero J, Szallasi Z, Schwarz RF, Stewart A, Quezada SA, Le Quesne J, Van Loo P, Dive C, Hackshaw A, Swanton C; TRACERx Consortium
N Engl J Med 2017 Jun 1;376(22):2109-2121. Epub 2017 Apr 26 doi: 10.1056/NEJMoa1616288. PMID: 28445112

Diagnosis

Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Lang M, Cai HC, Lin H, Chang L, Dai JW, Chen J, Duan MH, Zhou DB, Goyal G, Cao XX
Orphanet J Rare Dis 2023 Nov 30;18(1):372. doi: 10.1186/s13023-023-02989-8. PMID: 38037140Free PMC Article
Proficiency testing of PIK3CA mutations in HR+/HER2-breast cancer on liquid biopsy and tissue.
Vollbrecht C, Hoffmann I, Lehmann A, Merkelbach-Bruse S, Fassunke J, Wagener-Ryczek S, Ball M, Dimitrova L, Hartmann A, Stöhr R, Erber R, Weichert W, Pfarr N, Bohlmann L, Jung A, Dietmaier W, Dietel M, Horst D, Hummel M
Virchows Arch 2023 Apr;482(4):697-706. Epub 2022 Nov 11 doi: 10.1007/s00428-022-03445-x. PMID: 36367572Free PMC Article
Toxicological effects of polystyrene nanoplastics and perfluorooctanoic acid to Gambusia affinis.
Liu S, Yan L, Zhang Y, Junaid M, Wang J
Fish Shellfish Immunol 2022 Aug;127:1100-1112. Epub 2022 Jul 11 doi: 10.1016/j.fsi.2022.06.064. PMID: 35835386

Therapy

Molecular profiling of neuroendocrine malignancies to identify prognostic and therapeutic markers: a Fox Chase Cancer Center Pilot Study.
Vijayvergia N, Boland PM, Handorf E, Gustafson KS, Gong Y, Cooper HS, Sheriff F, Astsaturov I, Cohen SJ, Engstrom PF
Br J Cancer 2016 Aug 23;115(5):564-70. Epub 2016 Aug 2 doi: 10.1038/bjc.2016.229. PMID: 27482646Free PMC Article

Prognosis

Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Lang M, Cai HC, Lin H, Chang L, Dai JW, Chen J, Duan MH, Zhou DB, Goyal G, Cao XX
Orphanet J Rare Dis 2023 Nov 30;18(1):372. doi: 10.1186/s13023-023-02989-8. PMID: 38037140Free PMC Article
Generalizable biomarker prediction from cancer pathology slides with self-supervised deep learning: A retrospective multi-centric study.
Niehues JM, Quirke P, West NP, Grabsch HI, van Treeck M, Schirris Y, Veldhuizen GP, Hutchins GGA, Richman SD, Foersch S, Brinker TJ, Fukuoka J, Bychkov A, Uegami W, Truhn D, Brenner H, Brobeil A, Hoffmeister M, Kather JN
Cell Rep Med 2023 Apr 18;4(4):100980. Epub 2023 Mar 22 doi: 10.1016/j.xcrm.2023.100980. PMID: 36958327Free PMC Article
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E, Annaratone L, Bellomo SE, Ferrero G, Gagliardi A, Bragoni A, Grassini D, Guarrera S, Parlato C, Casorzo L, Panero M, Sarotto I, Giordano S, Cereda M, Montemurro F, Ponzone R, Crosetto N, Naccarati A, Sapino A, Marchiò C
Genome Med 2022 Aug 29;14(1):98. doi: 10.1186/s13073-022-01104-z. PMID: 36038884Free PMC Article
Tracking the Evolution of Non-Small-Cell Lung Cancer.
Jamal-Hanjani M, Wilson GA, McGranahan N, Birkbak NJ, Watkins TBK, Veeriah S, Shafi S, Johnson DH, Mitter R, Rosenthal R, Salm M, Horswell S, Escudero M, Matthews N, Rowan A, Chambers T, Moore DA, Turajlic S, Xu H, Lee SM, Forster MD, Ahmad T, Hiley CT, Abbosh C, Falzon M, Borg E, Marafioti T, Lawrence D, Hayward M, Kolvekar S, Panagiotopoulos N, Janes SM, Thakrar R, Ahmed A, Blackhall F, Summers Y, Shah R, Joseph L, Quinn AM, Crosbie PA, Naidu B, Middleton G, Langman G, Trotter S, Nicolson M, Remmen H, Kerr K, Chetty M, Gomersall L, Fennell DA, Nakas A, Rathinam S, Anand G, Khan S, Russell P, Ezhil V, Ismail B, Irvin-Sellers M, Prakash V, Lester JF, Kornaszewska M, Attanoos R, Adams H, Davies H, Dentro S, Taniere P, O'Sullivan B, Lowe HL, Hartley JA, Iles N, Bell H, Ngai Y, Shaw JA, Herrero J, Szallasi Z, Schwarz RF, Stewart A, Quezada SA, Le Quesne J, Van Loo P, Dive C, Hackshaw A, Swanton C; TRACERx Consortium
N Engl J Med 2017 Jun 1;376(22):2109-2121. Epub 2017 Apr 26 doi: 10.1056/NEJMoa1616288. PMID: 28445112
Molecular profiling of neuroendocrine malignancies to identify prognostic and therapeutic markers: a Fox Chase Cancer Center Pilot Study.
Vijayvergia N, Boland PM, Handorf E, Gustafson KS, Gong Y, Cooper HS, Sheriff F, Astsaturov I, Cohen SJ, Engstrom PF
Br J Cancer 2016 Aug 23;115(5):564-70. Epub 2016 Aug 2 doi: 10.1038/bjc.2016.229. PMID: 27482646Free PMC Article

Clinical prediction guides

Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Lang M, Cai HC, Lin H, Chang L, Dai JW, Chen J, Duan MH, Zhou DB, Goyal G, Cao XX
Orphanet J Rare Dis 2023 Nov 30;18(1):372. doi: 10.1186/s13023-023-02989-8. PMID: 38037140Free PMC Article
Generalizable biomarker prediction from cancer pathology slides with self-supervised deep learning: A retrospective multi-centric study.
Niehues JM, Quirke P, West NP, Grabsch HI, van Treeck M, Schirris Y, Veldhuizen GP, Hutchins GGA, Richman SD, Foersch S, Brinker TJ, Fukuoka J, Bychkov A, Uegami W, Truhn D, Brenner H, Brobeil A, Hoffmeister M, Kather JN
Cell Rep Med 2023 Apr 18;4(4):100980. Epub 2023 Mar 22 doi: 10.1016/j.xcrm.2023.100980. PMID: 36958327Free PMC Article
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E, Annaratone L, Bellomo SE, Ferrero G, Gagliardi A, Bragoni A, Grassini D, Guarrera S, Parlato C, Casorzo L, Panero M, Sarotto I, Giordano S, Cereda M, Montemurro F, Ponzone R, Crosetto N, Naccarati A, Sapino A, Marchiò C
Genome Med 2022 Aug 29;14(1):98. doi: 10.1186/s13073-022-01104-z. PMID: 36038884Free PMC Article
Tracking the Evolution of Non-Small-Cell Lung Cancer.
Jamal-Hanjani M, Wilson GA, McGranahan N, Birkbak NJ, Watkins TBK, Veeriah S, Shafi S, Johnson DH, Mitter R, Rosenthal R, Salm M, Horswell S, Escudero M, Matthews N, Rowan A, Chambers T, Moore DA, Turajlic S, Xu H, Lee SM, Forster MD, Ahmad T, Hiley CT, Abbosh C, Falzon M, Borg E, Marafioti T, Lawrence D, Hayward M, Kolvekar S, Panagiotopoulos N, Janes SM, Thakrar R, Ahmed A, Blackhall F, Summers Y, Shah R, Joseph L, Quinn AM, Crosbie PA, Naidu B, Middleton G, Langman G, Trotter S, Nicolson M, Remmen H, Kerr K, Chetty M, Gomersall L, Fennell DA, Nakas A, Rathinam S, Anand G, Khan S, Russell P, Ezhil V, Ismail B, Irvin-Sellers M, Prakash V, Lester JF, Kornaszewska M, Attanoos R, Adams H, Davies H, Dentro S, Taniere P, O'Sullivan B, Lowe HL, Hartley JA, Iles N, Bell H, Ngai Y, Shaw JA, Herrero J, Szallasi Z, Schwarz RF, Stewart A, Quezada SA, Le Quesne J, Van Loo P, Dive C, Hackshaw A, Swanton C; TRACERx Consortium
N Engl J Med 2017 Jun 1;376(22):2109-2121. Epub 2017 Apr 26 doi: 10.1056/NEJMoa1616288. PMID: 28445112

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