{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Madsen RR"],"funding":["PTEN Research","Cancer Research UK","National Institute for Health Research (NIHR)","Wellcome Trust","UK NIHR University College London Hospitals Biomedical Research Centre","UK NIHR Cambridge Biomedical Research Centre"],"pagination":["856-870"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6185869"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(10)"],"pubmed_abstract":["PIK3CA is one of the most commonly mutated genes in solid cancers. PIK3CA mutations are also found in benign overgrowth syndromes, collectively known as PIK3CA-related overgrowth spectrum (PROS). As in cancer, PIK3CA mutations in PROS arise postzygotically, but unlike in cancer, these mutations arise during embryonic development, with their timing and location critically influencing the resulting disease phenotype. Recent evidence indicates that phosphoinositide 3-kinase (PI3K) pathway inhibitors undergoing trials in cancer can provide a therapy for PROS. Conversely, PROS highlights gaps in our understanding of PI3K's role during embryogenesis and in cancer development. Here, we summarize current knowledge of PROS, evaluate challenges and strategies for disease modeling, and consider the i"],"journal":["Trends in molecular medicine"],"pubmed_title":["Cancer-Associated PIK3CA Mutations in Overgrowth Disorders."],"pmcid":["PMC6185869"],"funding_grant_id":["C23338/A15965","105371/Z/14/Z","25722","210752/Z/18/Z","15965"],"pubmed_authors":["Madsen RR","Semple RK","Vanhaesebroeck B"],"additional_accession":[]},"is_claimable":false,"name":"Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.","description":"PIK3CA is one of the most commonly mutated genes in solid cancers. PIK3CA mutations are also found in benign overgrowth syndromes, collectively known as PIK3CA-related overgrowth spectrum (PROS). As in cancer, PIK3CA mutations in PROS arise postzygotically, but unlike in cancer, these mutations arise during embryonic development, with their timing and location critically influencing the resulting disease phenotype. Recent evidence indicates that phosphoinositide 3-kinase (PI3K) pathway inhibitors undergoing trials in cancer can provide a therapy for PROS. Conversely, PROS highlights gaps in our understanding of PI3K's role during embryogenesis and in cancer development. Here, we summarize current knowledge of PROS, evaluate challenges and strategies for disease modeling, and consider the i","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Oct","modification":"2026-05-06T03:39:20.828Z","creation":"2019-03-27T00:02:34Z"},"accession":"S-EPMC6185869","cross_references":{"pubmed":["30197175"],"doi":["10.1016/j.molmed.2018.08.003"]}}