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Phenotypic variability in PHTS is partly due to diverse PTEN variants and the protein's multifaceted functions. PTEN is primarily a phosphatidylinositol(3,4,5)trisphosphate (PIP3) phosphatase regulating PI3K\/AKT signalling but also maintains chromosomal stability through nuclear functions such as double-stranded (ds)DNA damage repair. Here, we show that PTEN-R173C, a pathogenic variant frequently found in PHTS and somatic cancer, has elevated PIP3 phosphatase activity that effectively regulates canonical PI3K\/AKT signalling. However, PTEN-R173C is unstable and excluded from the nucleus. We generated Pten+\/R173C mice which developed few tumours during their lifetime, aligning with normal PI3K\/AKT signalling. However, they exhibited lymphoid hyperplasia, macrocephaly and brain abnormalities, associated with impaired nuclear functions of PTEN-R173C, demonstrated by reduced dsDNA damage repair. We integrated PHTS patient data with our mouse model results, and propose that defective nuclear functions of PTEN variants can predict the onset of PHTS phenotypes and that late-onset cancer in these individuals may arise from secondary genetic alterations, facilitated by compromised dsDNA repair.<\/jats:p>","DOI":"10.1242\/dmm.052527","type":"journal-article","created":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T09:06:36Z","timestamp":1762851996000},"source":"Crossref","is-referenced-by-count":3,"title":["Impaired nuclear PTEN function drives macrocephaly, lymphadenopathy and late-onset cancer in PTEN hamartoma tumour syndrome"],"prefix":"10.1242","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3510-8428","authenticated-orcid":false,"given":"Priyanka","family":"Tibarewal","sequence":"first","affiliation":[{"name":"Cancer Institute, University College London 1 , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Rathbone","sequence":"additional","affiliation":[{"name":"Cancer Institute, University College London 1 , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Conduit","sequence":"additional","affiliation":[{"name":"Cancer Institute, University College London 1 , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gala Anastasia Electra","family":"Classen","sequence":"additional","affiliation":[{"name":"Cancer Institute, University College London 1 , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"Black","sequence":"additional","affiliation":[{"name":"Cancer Institute, University College London 1 , London WC1E 6BT 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Physiology , , Yahaba 028-3694 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nisha","family":"Kriplani","sequence":"additional","affiliation":[{"name":"Institute of Biological Chemistry, Biophysics and Bioengineering, Heriot Watt University 4 , Edinburgh EH14 4AS ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia Alvarez","family":"Garcia","sequence":"additional","affiliation":[{"name":"Institute of Biological Chemistry, Biophysics and Bioengineering, Heriot Watt University 4 , Edinburgh EH14 4AS ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Foxall","sequence":"additional","affiliation":[{"name":"Cancer Institute, University College London 1 , London WC1E 6BT ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Djenat","family":"Belarbi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9 5 , 75014 Paris ,","place":["France"]},{"name":"Institut Cochin, Cancer Research Axis, INSERM U1016 6 , 75014 Paris ,","place":["France"]},{"name":"CNRS, UMR8104 7 , 75014 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Leverve","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9 5 , 75014 Paris ,","place":["France"]},{"name":"Institut Cochin, Cancer Research Axis, INSERM U1016 6 , 75014 Paris ,","place":["France"]},{"name":"CNRS, UMR8104 7 , 75014 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5407-4767","authenticated-orcid":false,"given":"Wayne","family":"Pearce","sequence":"additional","affiliation":[{"name":"Cancer Institute, University College London 1 , London WC1E 6BT 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