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PIK3R1 Gene Mutation

MedGen UID:
1374488
•Concept ID:
C4330919
•
Cell or Molecular Dysfunction
Synonyms: GRB1 Gene Mutation; p85-ALPHA Gene Mutation; Phosphoinositide-3-Kinase Regulatory Subunit 1 Gene Mutation

Definition

A change in the nucleotide sequence of the PIK3R1 gene. [from NCI]

Professional guidelines

PubMed

Clinical Features and Genetic Analysis of Taiwanese Primary Immunodeficiency Patients with Prolonged Diarrhea and Monogenetic Inflammatory Bowel Disease.
Lee WI, Chen CC, Chen SH, Lai WT, Jaing TH, Ou LS, Liang CJ, Kang CC, Huang JL
J Clin Immunol 2023 Aug;43(6):1455-1467. Epub 2023 May 19 doi: 10.1007/s10875-023-01503-w. PMID: 37202577
Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan.
Moriya K, Mitsui-Sekinaka K, Sekinaka Y, Endo A, Kanegane H, Morio T, Imai K, Nonoyama S
Immunol Med 2023 Dec;46(4):153-157. Epub 2023 May 13 doi: 10.1080/25785826.2023.2210366. PMID: 37178059
The Treatment of Activated PI3Kδ Syndrome.
Coulter TI, Cant AJ
Front Immunol 2018;9:2043. Epub 2018 Sep 7 doi: 10.3389/fimmu.2018.02043. PMID: 30245694Free PMC Article

Recent clinical studies

Etiology

Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
Genomic landscape of TCRαβ and TCRγδ T-large granular lymphocyte leukemia.
Cheon H, Xing JC, Moosic KB, Ung J, Chan VW, Chung DS, Toro MF, Elghawy O, Wang JS, Hamele CE, Hardison RC, Olson TL, Tan SF, Feith DJ, Ratan A, Loughran TP
Blood 2022 May 19;139(20):3058-3072. doi: 10.1182/blood.2021013164. PMID: 35015834Free PMC Article
Genetic mechanisms of primary chemotherapy resistance in pediatric acute myeloid leukemia.
McNeer NA, Philip J, Geiger H, Ries RE, Lavallée VP, Walsh M, Shah M, Arora K, Emde AK, Robine N, Alonzo TA, Kolb EA, Gamis AS, Smith M, Gerhard DS, Guidry-Auvil J, Meshinchi S, Kentsis A
Leukemia 2019 Aug;33(8):1934-1943. Epub 2019 Feb 13 doi: 10.1038/s41375-019-0402-3. PMID: 30760869Free PMC Article
The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia.
Liu Y, Easton J, Shao Y, Maciaszek J, Wang Z, Wilkinson MR, McCastlain K, Edmonson M, Pounds SB, Shi L, Zhou X, Ma X, Sioson E, Li Y, Rusch M, Gupta P, Pei D, Cheng C, Smith MA, Auvil JG, Gerhard DS, Relling MV, Winick NJ, Carroll AJ, Heerema NA, Raetz E, Devidas M, Willman CL, Harvey RC, Carroll WL, Dunsmore KP, Winter SS, Wood BL, Sorrentino BP, Downing JR, Loh ML, Hunger SP, Zhang J, Mullighan CG
Nat Genet 2017 Aug;49(8):1211-1218. Epub 2017 Jul 3 doi: 10.1038/ng.3909. PMID: 28671688Free PMC Article
Comprehensive genomic characterization defines human glioblastoma genes and core pathways.
Cancer Genome Atlas Research Network
Nature 2008 Oct 23;455(7216):1061-8. Epub 2008 Sep 4 doi: 10.1038/nature07385. PMID: 18772890Free PMC Article

Diagnosis

Genomic profile of Chinese patients with endometrial carcinoma.
Li J, Li X, Quan C, Li X, Wan C, Wu X
BMC Cancer 2023 Sep 20;23(1):888. doi: 10.1186/s12885-023-11382-4. PMID: 37730563Free PMC Article
The Role of PIK3R1 in Metabolic Function and Insulin Sensitivity.
Tsay A, Wang JC
Int J Mol Sci 2023 Aug 11;24(16) doi: 10.3390/ijms241612665. PMID: 37628845Free PMC Article
Genetic mechanisms of primary chemotherapy resistance in pediatric acute myeloid leukemia.
McNeer NA, Philip J, Geiger H, Ries RE, Lavallée VP, Walsh M, Shah M, Arora K, Emde AK, Robine N, Alonzo TA, Kolb EA, Gamis AS, Smith M, Gerhard DS, Guidry-Auvil J, Meshinchi S, Kentsis A
Leukemia 2019 Aug;33(8):1934-1943. Epub 2019 Feb 13 doi: 10.1038/s41375-019-0402-3. PMID: 30760869Free PMC Article
The Treatment of Activated PI3Kδ Syndrome.
Coulter TI, Cant AJ
Front Immunol 2018;9:2043. Epub 2018 Sep 7 doi: 10.3389/fimmu.2018.02043. PMID: 30245694Free PMC Article
Genetic disorders of GH action pathway.
Domené HM, Fierro-Carrión G
Growth Horm IGF Res 2018 Feb;38:19-23. Epub 2017 Dec 12 doi: 10.1016/j.ghir.2017.12.004. PMID: 29249625

Therapy

A comprehensive genomic study of 390 H3F3A-mutant pediatric and adult diffuse high-grade gliomas, CNS WHO grade 4.
Williams EA, Brastianos PK, Wakimoto H, Zolal A, Filbin MG, Cahill DP, Santagata S, Juratli TA
Acta Neuropathol 2023 Sep;146(3):515-525. Epub 2023 Jul 31 doi: 10.1007/s00401-023-02609-6. PMID: 37524847Free PMC Article
Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan.
Moriya K, Mitsui-Sekinaka K, Sekinaka Y, Endo A, Kanegane H, Morio T, Imai K, Nonoyama S
Immunol Med 2023 Dec;46(4):153-157. Epub 2023 May 13 doi: 10.1080/25785826.2023.2210366. PMID: 37178059
Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
The Treatment of Activated PI3Kδ Syndrome.
Coulter TI, Cant AJ
Front Immunol 2018;9:2043. Epub 2018 Sep 7 doi: 10.3389/fimmu.2018.02043. PMID: 30245694Free PMC Article
Genomics to immunotherapy of ovarian clear cell carcinoma: Unique opportunities for management.
Oda K, Hamanishi J, Matsuo K, Hasegawa K
Gynecol Oncol 2018 Nov;151(2):381-389. Epub 2018 Sep 12 doi: 10.1016/j.ygyno.2018.09.001. PMID: 30217369Free PMC Article

Prognosis

Genomic profile of Chinese patients with endometrial carcinoma.
Li J, Li X, Quan C, Li X, Wan C, Wu X
BMC Cancer 2023 Sep 20;23(1):888. doi: 10.1186/s12885-023-11382-4. PMID: 37730563Free PMC Article
Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
Pan-cancer analysis on the role of PIK3R1 and PIK3R2 in human tumors.
Liu Y, Wang D, Li Z, Li X, Jin M, Jia N, Cui X, Hu G, Tang T, Yu Q
Sci Rep 2022 Apr 8;12(1):5924. doi: 10.1038/s41598-022-09889-0. PMID: 35395865Free PMC Article
Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.
Venkataramany AS, Schieffer KM, Lee K, Cottrell CE, Wang PY, Mardis ER, Cripe TP, Chandler DS
Ann Oncol 2022 Jun;33(6):578-592. Epub 2022 Mar 23 doi: 10.1016/j.annonc.2022.03.011. PMID: 35339647
NSUN2 modified by SUMO-2/3 promotes gastric cancer progression and regulates mRNA m5C methylation.
Hu Y, Chen C, Tong X, Chen S, Hu X, Pan B, Sun X, Chen Z, Shi X, Hu Y, Shen X, Xue X, Lu M
Cell Death Dis 2021 Sep 9;12(9):842. doi: 10.1038/s41419-021-04127-3. PMID: 34504059Free PMC Article

Clinical prediction guides

Mutational analysis of microsatellite-stable gastrointestinal cancer with high tumour mutational burden: a retrospective cohort study.
Wang J, Xiu J, Farrell A, Baca Y, Arai H, Battaglin F, Kawanishi N, Soni S, Zhang W, Millstein J, Shields AF, Grothey A, Weinberg BA, Marshall JL, Lou E, Khushman M, Sohal DPS, Hall MJ, Liu T, Oberley M, Spetzler D, Korn WM, Shen L, Lenz HJ
Lancet Oncol 2023 Feb;24(2):151-161. Epub 2023 Jan 18 doi: 10.1016/S1470-2045(22)00783-5. PMID: 36681091Free PMC Article
Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities.
Venkataramany AS, Schieffer KM, Lee K, Cottrell CE, Wang PY, Mardis ER, Cripe TP, Chandler DS
Ann Oncol 2022 Jun;33(6):578-592. Epub 2022 Mar 23 doi: 10.1016/j.annonc.2022.03.011. PMID: 35339647
Genomic landscape of TCRαβ and TCRγδ T-large granular lymphocyte leukemia.
Cheon H, Xing JC, Moosic KB, Ung J, Chan VW, Chung DS, Toro MF, Elghawy O, Wang JS, Hamele CE, Hardison RC, Olson TL, Tan SF, Feith DJ, Ratan A, Loughran TP
Blood 2022 May 19;139(20):3058-3072. doi: 10.1182/blood.2021013164. PMID: 35015834Free PMC Article
NSUN2 modified by SUMO-2/3 promotes gastric cancer progression and regulates mRNA m5C methylation.
Hu Y, Chen C, Tong X, Chen S, Hu X, Pan B, Sun X, Chen Z, Shi X, Hu Y, Shen X, Xue X, Lu M
Cell Death Dis 2021 Sep 9;12(9):842. doi: 10.1038/s41419-021-04127-3. PMID: 34504059Free PMC Article
Comprehensive genomic characterization defines human glioblastoma genes and core pathways.
Cancer Genome Atlas Research Network
Nature 2008 Oct 23;455(7216):1061-8. Epub 2008 Sep 4 doi: 10.1038/nature07385. PMID: 18772890Free PMC Article

Recent systematic reviews

Systematic review of mortality and survival rates for APDS.
Hanson J, Bonnen PE
Clin Exp Med 2024 Jan 27;24(1):17. doi: 10.1007/s10238-023-01259-y. PMID: 38280023Free PMC Article

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