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PI3K Gene Mutation

MedGen UID:
1684396
Concept ID:
C4761316
Cell or Molecular Dysfunction
Synonyms: 1-Phosphatidylinositol 3-Kinase Gene Mutation; Phosphatidylinositide 3-Kinase Gene Mutation; Phosphatidylinositol 3 Kinase Gene Mutation; Phosphatidylinositol 3-Kinase Gene Mutation; Phosphatidylinositol-3-Kinase Gene Mutation; Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Gene Mutation; PI3 Kinase Gene Mutation; PI3-Kinase Gene Mutation; PI3K Family Gene Mutation; PI3K Mutation; PIK3 Gene Mutation

Definition

A change in the nucleotide sequence in a PI3K family gene. [from NCI]

Professional guidelines

PubMed

Jin Y, Chen Y, Tang H, Hu X, Hubert SM, Li Q, Su D, Xu H, Fan Y, Yu X, Chen Q, Liu J, Hong W, Xu Y, Deng H, Zhu D, Li P, Gong Y, Xia X, Gay CM, Zhang J, Chen M
Clin Cancer Res 2022 Feb 1;28(3):526-539. Epub 2021 Dec 17 doi: 10.1158/1078-0432.CCR-21-1943. PMID: 34921019
Guerrini R, Barba C
Expert Rev Neurother 2021 Nov;21(11):1213-1224. Epub 2021 Apr 25 doi: 10.1080/14737175.2021.1915135. PMID: 33834938
Luo C, Cen S, Ding G, Wu W
Cancer Commun (Lond) 2019 Mar 29;39(1):13. doi: 10.1186/s40880-019-0361-0. PMID: 30922401Free PMC Article

Recent clinical studies

Etiology

Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-Noreuil KM
Orphanet J Rare Dis 2021 Jul 8;16(1):306. doi: 10.1186/s13023-021-01929-8. PMID: 34238334Free PMC Article
Lee YR, Yehia L, Kishikawa T, Ni Y, Leach B, Zhang J, Panch N, Liu J, Wei W, Eng C, Pandolfi PP
N Engl J Med 2020 May 28;382(22):2103-2116. doi: 10.1056/NEJMoa1914919. PMID: 32459922Free PMC Article
Yehia L, Keel E, Eng C
Annu Rev Med 2020 Jan 27;71:103-116. Epub 2019 Aug 21 doi: 10.1146/annurev-med-052218-125823. PMID: 31433956
Armenia J, Wankowicz SAM, Liu D, Gao J, Kundra R, Reznik E, Chatila WK, Chakravarty D, Han GC, Coleman I, Montgomery B, Pritchard C, Morrissey C, Barbieri CE, Beltran H, Sboner A, Zafeiriou Z, Miranda S, Bielski CM, Penson AV, Tolonen C, Huang FW, Robinson D, Wu YM, Lonigro R, Garraway LA, Demichelis F, Kantoff PW, Taplin ME, Abida W, Taylor BS, Scher HI, Nelson PS, de Bono JS, Rubin MA, Sawyers CL, Chinnaiyan AM; PCF/SU2C International Prostate Cancer Dream Team, Schultz N, Van Allen EM
Nat Genet 2018 May;50(5):645-651. Epub 2018 Apr 2 doi: 10.1038/s41588-018-0078-z. PMID: 29610475Free PMC Article
Sato Y, Yoshizato T, Shiraishi Y, Maekawa S, Okuno Y, Kamura T, Shimamura T, Sato-Otsubo A, Nagae G, Suzuki H, Nagata Y, Yoshida K, Kon A, Suzuki Y, Chiba K, Tanaka H, Niida A, Fujimoto A, Tsunoda T, Morikawa T, Maeda D, Kume H, Sugano S, Fukayama M, Aburatani H, Sanada M, Miyano S, Homma Y, Ogawa S
Nat Genet 2013 Aug;45(8):860-7. Epub 2013 Jun 24 doi: 10.1038/ng.2699. PMID: 23797736

Diagnosis

Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-Noreuil KM
Orphanet J Rare Dis 2021 Jul 8;16(1):306. doi: 10.1186/s13023-021-01929-8. PMID: 34238334Free PMC Article
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Dariya B, Aliya S, Merchant N, Alam A, Nagaraju GP
Crit Rev Oncog 2020;25(2):71-94. doi: 10.1615/CritRevOncog.2020035067. PMID: 33389859
Lee YR, Yehia L, Kishikawa T, Ni Y, Leach B, Zhang J, Panch N, Liu J, Wei W, Eng C, Pandolfi PP
N Engl J Med 2020 May 28;382(22):2103-2116. doi: 10.1056/NEJMoa1914919. PMID: 32459922Free PMC Article
Yehia L, Keel E, Eng C
Annu Rev Med 2020 Jan 27;71:103-116. Epub 2019 Aug 21 doi: 10.1146/annurev-med-052218-125823. PMID: 31433956

Therapy

Mullen J, Kato S, Sicklick JK, Kurzrock R
Cancer Treat Rev 2021 Nov;100:102287. Epub 2021 Sep 6 doi: 10.1016/j.ctrv.2021.102287. PMID: 34619527
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Le Rhun E, Preusser M, Roth P, Reardon DA, van den Bent M, Wen P, Reifenberger G, Weller M
Cancer Treat Rev 2019 Nov;80:101896. Epub 2019 Sep 11 doi: 10.1016/j.ctrv.2019.101896. PMID: 31541850
Pascual J, Turner NC
Ann Oncol 2019 Jul 1;30(7):1051-1060. doi: 10.1093/annonc/mdz133. PMID: 31050709
Liu Q, Yu S, Zhao W, Qin S, Chu Q, Wu K
Mol Cancer 2018 Feb 19;17(1):53. doi: 10.1186/s12943-018-0793-1. PMID: 29455669Free PMC Article

Prognosis

Sukumar J, Gast K, Quiroga D, Lustberg M, Williams N
Expert Rev Anticancer Ther 2021 Feb;21(2):135-148. doi: 10.1080/14737140.2021.1840984. PMID: 33198517Free PMC Article
Dariya B, Aliya S, Merchant N, Alam A, Nagaraju GP
Crit Rev Oncog 2020;25(2):71-94. doi: 10.1615/CritRevOncog.2020035067. PMID: 33389859
Mateo J, Seed G, Bertan C, Rescigno P, Dolling D, Figueiredo I, Miranda S, Nava Rodrigues D, Gurel B, Clarke M, Atkin M, Chandler R, Messina C, Sumanasuriya S, Bianchini D, Barrero M, Petermolo A, Zafeiriou Z, Fontes M, Perez-Lopez R, Tunariu N, Fulton B, Jones R, McGovern U, Ralph C, Varughese M, Parikh O, Jain S, Elliott T, Sandhu S, Porta N, Hall E, Yuan W, Carreira S, de Bono JS
J Clin Invest 2020 Apr 1;130(4):1743-1751. doi: 10.1172/JCI132031. PMID: 31874108Free PMC Article
Yehia L, Keel E, Eng C
Annu Rev Med 2020 Jan 27;71:103-116. Epub 2019 Aug 21 doi: 10.1146/annurev-med-052218-125823. PMID: 31433956
Landa I, Ibrahimpasic T, Boucai L, Sinha R, Knauf JA, Shah RH, Dogan S, Ricarte-Filho JC, Krishnamoorthy GP, Xu B, Schultz N, Berger MF, Sander C, Taylor BS, Ghossein R, Ganly I, Fagin JA
J Clin Invest 2016 Mar 1;126(3):1052-66. Epub 2016 Feb 15 doi: 10.1172/JCI85271. PMID: 26878173Free PMC Article

Clinical prediction guides

Quintanal-Villalonga A, Taniguchi H, Zhan YA, Hasan MM, Chavan SS, Meng F, Uddin F, Manoj P, Donoghue MTA, Won HH, Chan JM, Ciampricotti M, Chow A, Offin M, Chang JC, Ray-Kirton J, Tischfield SE, Egger J, Bhanot UK, Linkov I, Asher M, Sinha S, Silber J, Iacobuzio-Donahue CA, Roehrl MH, Hollmann TJ, Yu HA, Qiu J, de Stanchina E, Baine MK, Rekhtman N, Poirier JT, Loomis B, Koche RP, Rudin CM, Sen T
Cancer Discov 2021 Dec 1;11(12):3028-3047. doi: 10.1158/2159-8290.CD-20-1863. PMID: 34155000Free PMC Article
Dariya B, Aliya S, Merchant N, Alam A, Nagaraju GP
Crit Rev Oncog 2020;25(2):71-94. doi: 10.1615/CritRevOncog.2020035067. PMID: 33389859
Martínez-Sáez O, Chic N, Pascual T, Adamo B, Vidal M, González-Farré B, Sanfeliu E, Schettini F, Conte B, Brasó-Maristany F, Rodríguez A, Martínez D, Galván P, Rodríguez AB, Martinez A, Muñoz M, Prat A
Breast Cancer Res 2020 May 13;22(1):45. doi: 10.1186/s13058-020-01284-9. PMID: 32404150Free PMC Article
Álvarez-Garcia V, Tawil Y, Wise HM, Leslie NR
Semin Cancer Biol 2019 Dec;59:66-79. Epub 2019 Feb 7 doi: 10.1016/j.semcancer.2019.02.001. PMID: 30738865
Landa I, Ibrahimpasic T, Boucai L, Sinha R, Knauf JA, Shah RH, Dogan S, Ricarte-Filho JC, Krishnamoorthy GP, Xu B, Schultz N, Berger MF, Sander C, Taylor BS, Ghossein R, Ganly I, Fagin JA
J Clin Invest 2016 Mar 1;126(3):1052-66. Epub 2016 Feb 15 doi: 10.1172/JCI85271. PMID: 26878173Free PMC Article

Recent systematic reviews

Hanson J, Bonnen PE
Clin Exp Med 2024 Jan 27;24(1):17. doi: 10.1007/s10238-023-01259-y. PMID: 38280023Free PMC Article
de Carvalho Kimura T, de Lima-Souza RA, Scarini JF, Lavareze L, Egal ESA, Altemani A, Mariano FV
Head Neck 2023 Sep;45(9):2449-2457. Epub 2023 Jul 5 doi: 10.1002/hed.27435. PMID: 37403748
Deb PQ, Heller DS
J Low Genit Tract Dis 2023 Jan 1;27(1):40-46. Epub 2022 Sep 9 doi: 10.1097/LGT.0000000000000701. PMID: 36083687
Broit N, Johansson PA, Rodgers CB, Walpole ST, Newell F, Hayward NK, Pritchard AL
Mol Cancer Res 2021 Jun;19(6):991-1004. Epub 2021 Mar 11 doi: 10.1158/1541-7786.MCR-20-0839. PMID: 33707307
Tsilimigras DI, Ntanasis-Stathopoulos I, Bagante F, Moris D, Cloyd J, Spartalis E, Pawlik TM
Surg Oncol 2018 Jun;27(2):280-288. Epub 2018 May 8 doi: 10.1016/j.suronc.2018.05.012. PMID: 29937183

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