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34 Possible Causes for Mutation in the PIK3R1 Gene

  • SHORT Syndrome

    Etiology SHORT syndrome is due to mutations in the PIK3R1 gene (5q13.1), encoding phosphatidylinositol 3-kinase regulatory subunit alpha.[orpha.net] SHORT syndrome results from mutations in the PIK3R1 gene.[ghr.nlm.nih.gov] Diagnosis The diagnosis of SHORT syndrome is based on physical findings and molecular genetic testing for mutations in the PIK3R1 gene.[rarediseases.org]

  • Carcinoma of the Rectum

    Colon cancers have relatively frequent mutations in BRAF , CTNNB1 , PIK3R1 , and SRC , whereas rectal cancers are more commonly mutant for APC , ERBB2 , STK11 , and TP53 ([cancerdiscovery.aacrjournals.org] However, several genes are also identified that discriminate between colon and rectal cancers.[cancerdiscovery.aacrjournals.org]

  • Adenocarcinoma of the Colon

    Colon cancers have relatively frequent mutations in BRAF , CTNNB1 , PIK3R1 , and SRC , whereas rectal cancers are more commonly mutant for APC , ERBB2 , STK11 , and TP53 ([cancerdiscovery.aacrjournals.org] However, several genes are also identified that discriminate between colon and rectal cancers.[cancerdiscovery.aacrjournals.org]

  • Thyroid Cancer

    Uncommon GNAQ, MMP8, AKT3, EGFR, and PIK3R1 mutations in thyroid cancers. Endocr. Pathol. 22, 97–102 (2011). 45. Maximo, V. et al.[dx.doi.org] Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hurthle cell) tumours[dx.doi.org]

  • Adenocarcinoma of the Rectum

    Colon cancers have relatively frequent mutations in BRAF , CTNNB1 , PIK3R1 , and SRC , whereas rectal cancers are more commonly mutant for APC , ERBB2 , STK11 , and TP53 ([cancerdiscovery.aacrjournals.org] However, several genes are also identified that discriminate between colon and rectal cancers.[cancerdiscovery.aacrjournals.org]

  • Autosomal Agammaglobulinemia

    615214}), caused by mutation in the PIK3R1 gene ({171833}); and AGM8 ({616941}), caused by mutation in the TCF3 gene ({147141}).[diseaseinfosearch.org] Etiology The disorder is due to mutations in various genes involved in humoral immunity, including: IGHM (14q32.33), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23),[orpha.net] […] in the BLNK gene ({604515}); AGM5 ({613506}), caused by disruption of the LRRC8 gene ({608360}); AGM6 ({612692}), caused by mutation in the CD79B gene ({147245}); AGM7 ({[diseaseinfosearch.org]

  • Diffuse Lymphoma

    We also experimentally validated a mutation in PIK3CD , a gene not previously implicated in lymphomas.[pnas.org] We identified recurrent mutations implicating a number of known and not previously identified genes and pathways in DLBCL including those related to chromatin modification[pnas.org] ( ARID1A and MEF2B ), NF-κB ( CARD11 and TNFAIP3 ), PI3 kinase ( PIK3CD , PIK3R1 , and MTOR ), B-cell lineage ( IRF8 , POU2F2 , and GNA13 ), and WNT signaling ( WIF1 ).[pnas.org]

  • Activated PI3K-Delta Syndrome

    Deau et al., A human immunodeficiency caused by mutations in the PIK3R1 gene. J. Clin. Invest., published online 18 August 2014 (10.1172/JCI75746).[stm.sciencemag.org] PIK3R1 genes encoding the p110delta catalytic and p85 regulatory PI3K subunits respectively are associated with a clinical phenotype of recurrent bacterial lung, sinus and[lifesci.dundee.ac.uk] PI3K disease is caused by mutations in the genes PIK3CD or PIK3R1, which provide instructions for producing a protein called PI3K-p110δ.[niaid.nih.gov]

  • Diffuse Astrocytoma

    Other common mutations in this group occur in the genes FUBP1 on chromosome 1p (31%), NOTCH1 (21%), PIK3CA (11%) and PIK3R1 (8%), and in the chromatin remodelling genes ARID1A[astrocytomaoptions.com] Other alterations found in the majority of cases in this group are TERT promoter mutations (98%), and CIC mutations on chromosome 19q (58%).[astrocytomaoptions.com]

  • Endometriosis of the Colon

    […] the gene PIK3R1 which activate ERK and JNK, thus allowing tumor growth.[sciencedaily.com] ., report that mutations on the gene PIK3R1 activate enzymes known as ERK and JNK, which prevent cell death.[mdanderson.org] "We found that the PIK3R1 mutation, R348, is a "neomorph" that changes the very nature of the gene itself, and unexpectedly activates the ERK and JNK signaling cascades rather[sciencedaily.com]

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