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PIK3R5 Gene Mutation

MedGen UID:
1638040
•Concept ID:
C4687445
•
Cell or Molecular Dysfunction
Synonyms: FOAP-2 Gene Mutation; p101 Gene Mutation; P101-PI3K Gene Mutation; Phosphoinositide-3-Kinase Regulatory Subunit 5 Gene Mutation; Phosphoinositide-3-Kinase, Regulatory Subunit 5 Gene Mutation

Definition

A change in the nucleotide sequence of the PIK3R5 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPIK3R5 Gene Mutation

Recent clinical studies

Etiology

Generation of novel lipid metabolism-based signatures to predict prognosis and immunotherapy response for colorectal adenocarcinoma.
Wang Y, Yao J, Zhang Z, Wei L, Wang S
Sci Rep 2024 Jul 26;14(1):17158. doi: 10.1038/s41598-024-67549-x. PMID: 39060344Free PMC Article
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
da Costa SCG, Rezende Filho FM, de Freitas JL, de Assis Pereira Matos PCA, Della-Ripa B, França MC Jr, Marques W Junior, Santos M, Cronemberger IVB, Vale TC, Kok F, Alonso I, Pedroso JL, Barsottini OGP
Mov Disord 2022 Jun;37(6):1309-1316. Epub 2022 Apr 14 doi: 10.1002/mds.29015. PMID: 35426160
Genetic Profiles Associated with Chemoresistance in Patient-Derived Xenograft Models of Ovarian Cancer.
Li LY, Kim HJ, Park SA, Lee SH, Kim LK, Lee JY, Kim S, Kim YT, Kim SW, Nam EJ
Cancer Res Treat 2019 Jul;51(3):1117-1127. Epub 2018 Nov 6 doi: 10.4143/crt.2018.405. PMID: 30428638Free PMC Article
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, Abu Dhaim N, Magrashi A, Bobis S, Ahmed H, Alahmed S, Bohlega S
Hum Mutat 2012 Feb;33(2):351-4. Epub 2011 Dec 8 doi: 10.1002/humu.21650. PMID: 22065524

Diagnosis

Angioimmunoblastic T-cell lymphoma: Novel recurrent mutations and prognostic biomarkers by cell-free DNA profiling.
Zhang C, Mou B, Xu J, Wang J, Liu Q, Yang Y, Tang W, Zhong X, Xu C
Br J Haematol 2023 Dec;203(5):807-819. Epub 2023 Aug 30 doi: 10.1111/bjh.19089. PMID: 37646306
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, Abu Dhaim N, Magrashi A, Bobis S, Ahmed H, Alahmed S, Bohlega S
Hum Mutat 2012 Feb;33(2):351-4. Epub 2011 Dec 8 doi: 10.1002/humu.21650. PMID: 22065524

Therapy

Genetic Profiles Associated with Chemoresistance in Patient-Derived Xenograft Models of Ovarian Cancer.
Li LY, Kim HJ, Park SA, Lee SH, Kim LK, Lee JY, Kim S, Kim YT, Kim SW, Nam EJ
Cancer Res Treat 2019 Jul;51(3):1117-1127. Epub 2018 Nov 6 doi: 10.4143/crt.2018.405. PMID: 30428638Free PMC Article

Prognosis

Generation of novel lipid metabolism-based signatures to predict prognosis and immunotherapy response for colorectal adenocarcinoma.
Wang Y, Yao J, Zhang Z, Wei L, Wang S
Sci Rep 2024 Jul 26;14(1):17158. doi: 10.1038/s41598-024-67549-x. PMID: 39060344Free PMC Article
Angioimmunoblastic T-cell lymphoma: Novel recurrent mutations and prognostic biomarkers by cell-free DNA profiling.
Zhang C, Mou B, Xu J, Wang J, Liu Q, Yang Y, Tang W, Zhong X, Xu C
Br J Haematol 2023 Dec;203(5):807-819. Epub 2023 Aug 30 doi: 10.1111/bjh.19089. PMID: 37646306

Clinical prediction guides

Generation of novel lipid metabolism-based signatures to predict prognosis and immunotherapy response for colorectal adenocarcinoma.
Wang Y, Yao J, Zhang Z, Wei L, Wang S
Sci Rep 2024 Jul 26;14(1):17158. doi: 10.1038/s41598-024-67549-x. PMID: 39060344Free PMC Article
Angioimmunoblastic T-cell lymphoma: Novel recurrent mutations and prognostic biomarkers by cell-free DNA profiling.
Zhang C, Mou B, Xu J, Wang J, Liu Q, Yang Y, Tang W, Zhong X, Xu C
Br J Haematol 2023 Dec;203(5):807-819. Epub 2023 Aug 30 doi: 10.1111/bjh.19089. PMID: 37646306

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