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PIK3R3 Gene Mutation

MedGen UID:
1752525
•Concept ID:
C5400680
•
Cell or Molecular Dysfunction
Synonyms: p55 Gene Mutation; p55-GAMMA Gene Mutation; p55PIK Gene Mutation; Phosphoinositide-3-Kinase Regulatory Subunit 3 Gene Mutation

Definition

A change in the nucleotide sequence of the PIK3R3 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPIK3R3 Gene Mutation

Recent clinical studies

Etiology

Distinct FLT3 Pathways Gene Expression Profiles in Pediatric De Novo Acute Lymphoblastic and Myeloid Leukemia with FLT3 Mutations: Implications for Targeted Therapy.
Zhao L, Chen H, Lan F, Hao J, Zhang W, Li Y, Yin Y, Huang M, Wu X
Int J Mol Sci 2024 Sep 4;25(17) doi: 10.3390/ijms25179581. PMID: 39273530Free PMC Article
Prognostic Model for Clear-cell Renal Cell Carcinoma Based on Natural Killer Cell-related Genes.
Shi X, Yuan M, Yang Y, Wang N, Niu Y, Yang C, Dong A, Zhu H, Jia X
Clin Genitourin Cancer 2023 Jun;21(3):e126-e137. Epub 2022 Nov 19 doi: 10.1016/j.clgc.2022.11.009. PMID: 36513558
Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell-Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report.
Calcaterra V, Chiricosta L, Mazzon E, Gugnandolo A, Alberti D, Maestri L, Meroni M, Vestri E, Verduci E, Dilillo D, Zuccotti G, Pelizzo G
Orphanet J Rare Dis 2021 Oct 29;16(1):455. doi: 10.1186/s13023-021-02093-9. PMID: 34715892Free PMC Article
DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice.
Zheng S, Xiao L, Liu Y, Wang Y, Cheng L, Zhang J, Yan N, Chen D
Cell Death Dis 2018 Feb 22;9(3):310. doi: 10.1038/s41419-018-0349-8. PMID: 29472543Free PMC Article
SOX4 expression in bladder carcinoma: clinical aspects and in vitro functional characterization.
Aaboe M, Birkenkamp-Demtroder K, Wiuf C, Sørensen FB, Thykjaer T, Sauter G, Jensen KM, Dyrskjøt L, Ørntoft T
Cancer Res 2006 Apr 1;66(7):3434-42. doi: 10.1158/0008-5472.CAN-05-3456. PMID: 16585165

Diagnosis

Prognostic Model for Clear-cell Renal Cell Carcinoma Based on Natural Killer Cell-related Genes.
Shi X, Yuan M, Yang Y, Wang N, Niu Y, Yang C, Dong A, Zhu H, Jia X
Clin Genitourin Cancer 2023 Jun;21(3):e126-e137. Epub 2022 Nov 19 doi: 10.1016/j.clgc.2022.11.009. PMID: 36513558
PIK3R3, a regulatory subunit of PI3K, modulates ovarian cancer stem cells and ovarian cancer development and progression by integrative analysis.
Sohn EJ
BMC Cancer 2022 Jun 27;22(1):708. doi: 10.1186/s12885-022-09807-7. PMID: 35761259Free PMC Article
Rare copy number variants implicated in posterior urethral valves.
Boghossian NS, Sicko RJ, Kay DM, Rigler SL, Caggana M, Tsai MY, Yeung EH, Pankratz N, Cole BR, Druschel CM, Romitti PA, Browne ML, Fan R, Liu A, Brody LC, Mills JL
Am J Med Genet A 2016 Mar;170(3):622-33. Epub 2015 Dec 14 doi: 10.1002/ajmg.a.37493. PMID: 26663319Free PMC Article
AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation.
Boscolo E, Coma S, Luks VL, Greene AK, Klagsbrun M, Warman ML, Bischoff J
Angiogenesis 2015 Apr;18(2):151-62. Epub 2014 Nov 26 doi: 10.1007/s10456-014-9453-2. PMID: 25424831Free PMC Article
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
Proverbio MC, Mangano E, Gessi A, Bordoni R, Spinelli R, Asselta R, Valin PS, Di Candia S, Zamproni I, Diceglie C, Mora S, Caruso-Nicoletti M, Salvatoni A, De Bellis G, Battaglia C
PLoS One 2013;8(7):e68740. Epub 2013 Jul 15 doi: 10.1371/journal.pone.0068740. PMID: 23869231Free PMC Article

Therapy

ESR1 mutations affect anti-proliferative responses to tamoxifen through enhanced cross-talk with IGF signaling.
Gelsomino L, Gu G, Rechoum Y, Beyer AR, Pejerrey SM, Tsimelzon A, Wang T, Huffman K, Ludlow A, Andò S, Fuqua SAW
Breast Cancer Res Treat 2016 Jun;157(2):253-265. Epub 2016 May 13 doi: 10.1007/s10549-016-3829-5. PMID: 27178332Free PMC Article
Altered p53 regulation of miR-148b and p55PIK contributes to tumor progression in colorectal cancer.
Wang G, Cao X, Lai S, Luo X, Feng Y, Wu J, Ning Q, Xia X, Wang J, Gong J, Hu J
Oncogene 2015 Feb 12;34(7):912-21. Epub 2014 Mar 17 doi: 10.1038/onc.2014.30. PMID: 24632606

Prognosis

Prognostic Model for Clear-cell Renal Cell Carcinoma Based on Natural Killer Cell-related Genes.
Shi X, Yuan M, Yang Y, Wang N, Niu Y, Yang C, Dong A, Zhu H, Jia X
Clin Genitourin Cancer 2023 Jun;21(3):e126-e137. Epub 2022 Nov 19 doi: 10.1016/j.clgc.2022.11.009. PMID: 36513558
PIK3R3, a regulatory subunit of PI3K, modulates ovarian cancer stem cells and ovarian cancer development and progression by integrative analysis.
Sohn EJ
BMC Cancer 2022 Jun 27;22(1):708. doi: 10.1186/s12885-022-09807-7. PMID: 35761259Free PMC Article
Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell-Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report.
Calcaterra V, Chiricosta L, Mazzon E, Gugnandolo A, Alberti D, Maestri L, Meroni M, Vestri E, Verduci E, Dilillo D, Zuccotti G, Pelizzo G
Orphanet J Rare Dis 2021 Oct 29;16(1):455. doi: 10.1186/s13023-021-02093-9. PMID: 34715892Free PMC Article
Genetic and Methylation-Induced Loss of miR-181a2/181b2 within chr9q33.3 Facilitates Tumor Growth of Cervical Cancer through the PIK3R3/Akt/FoxO Signaling Pathway.
Mei Q, Li X, Zhang K, Wu Z, Li X, Meng Y, Guo M, Luo G, Fu X, Han W
Clin Cancer Res 2017 Jan 15;23(2):575-586. Epub 2016 Aug 8 doi: 10.1158/1078-0432.CCR-16-0303. PMID: 27503199
SOX4 expression in bladder carcinoma: clinical aspects and in vitro functional characterization.
Aaboe M, Birkenkamp-Demtroder K, Wiuf C, Sørensen FB, Thykjaer T, Sauter G, Jensen KM, Dyrskjøt L, Ørntoft T
Cancer Res 2006 Apr 1;66(7):3434-42. doi: 10.1158/0008-5472.CAN-05-3456. PMID: 16585165

Clinical prediction guides

Prognostic Model for Clear-cell Renal Cell Carcinoma Based on Natural Killer Cell-related Genes.
Shi X, Yuan M, Yang Y, Wang N, Niu Y, Yang C, Dong A, Zhu H, Jia X
Clin Genitourin Cancer 2023 Jun;21(3):e126-e137. Epub 2022 Nov 19 doi: 10.1016/j.clgc.2022.11.009. PMID: 36513558
PIK3R3, a regulatory subunit of PI3K, modulates ovarian cancer stem cells and ovarian cancer development and progression by integrative analysis.
Sohn EJ
BMC Cancer 2022 Jun 27;22(1):708. doi: 10.1186/s12885-022-09807-7. PMID: 35761259Free PMC Article
Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell-Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report.
Calcaterra V, Chiricosta L, Mazzon E, Gugnandolo A, Alberti D, Maestri L, Meroni M, Vestri E, Verduci E, Dilillo D, Zuccotti G, Pelizzo G
Orphanet J Rare Dis 2021 Oct 29;16(1):455. doi: 10.1186/s13023-021-02093-9. PMID: 34715892Free PMC Article
Genetic and Methylation-Induced Loss of miR-181a2/181b2 within chr9q33.3 Facilitates Tumor Growth of Cervical Cancer through the PIK3R3/Akt/FoxO Signaling Pathway.
Mei Q, Li X, Zhang K, Wu Z, Li X, Meng Y, Guo M, Luo G, Fu X, Han W
Clin Cancer Res 2017 Jan 15;23(2):575-586. Epub 2016 Aug 8 doi: 10.1158/1078-0432.CCR-16-0303. PMID: 27503199
Recurrent chromosomal aberrations in intravenous leiomyomatosis of the uterus: high-resolution array comparative genomic hybridization study.
Buza N, Xu F, Wu W, Carr RJ, Li P, Hui P
Hum Pathol 2014 Sep;45(9):1885-92. Epub 2014 Jun 5 doi: 10.1016/j.humpath.2014.05.010. PMID: 25033729

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