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Publications

Listed below are publications associated with the projects identified on our website, or related activities in which PTEN Research (or its forerunner organisation) have been acknowledged.

2025

  1. Castillo, S. D., Perosanz, X., Ressler, A. K., Ivars, M., Rodriguez, J., Rovira, C., … Graupera, M. (2025). Somatic uniparental disomy of PTEN in endothelial cells causes vascular malformations in patients with PTEN Hamartoma Tumor Syndrome. Cancer Discovery. doi: 10.1158/2159-8290.CD-24-0807

  2. D’Amore, A., Sundberg, M., Lin, R., Lubbers, E. T., Winden, K. D., Yu, L., … Sahin, M. (2025). Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes. Molecular Psychiatry. doi: 10.1038/s41380-025-02916-2

  3. DeSpenza, T., Kiziltug, E., Allington, G., Barson, D. G., McGee, S., O’Connor, D., … Kahle, K. T. (2025). PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Nature Neuroscience, 28(3), 536–557. doi: 10.1038/s41593-024-01865-3

  4. Dhawan, A., Baitamouni, S., Liu, D., Yehia, L., Anthony, K., McCarther, A., … Eng, C. (2025). Cancer and Overgrowth Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations from the International PHTS Consensus Guidelines Working Group. Clinical Cancer Research, OF1–OF12. doi: 10.1158/1078-0432.CCR-24-3819

  5. Hendricks, L. A. J., Verbeek, K. C. J., Schuurs-Hoeijmakers, J. H. M., de Jong, M. M., Links, T. P., Brems, H., … Vos, J. R. (2025). The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS). Genetics in Medicine, 101467. doi: 10.1016/j.gim.2025.101467

  6. Hendricks, L. A. J., Verbeek, K. C. J., Schuurs-Hoeijmakers, J. H. M., de Putter, R., Brems, H., Van Daele, S. H., … Vos, J. R. (2025). Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)—a European cohort study. BJC Reports, 3(1), 42. doi: 10.1038/s44276-025-00157-y

  7. Kim, A. Y., Yehia, L., & Eng, C. (2025). Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants. Npj Genomic Medicine, 10(1), 43. doi: 10.1038/s41525-025-00495-3

  8. Mantoan Ritter, L., Annear, N. M. P., Baple, E. L., Ben-Chaabane, L. Y., Bodi, I., Brosson, L., … Bateman, J. M. (2025). mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node. Orphanet Journal of Rare Diseases, 20(1), 256. doi: 10.1186/s13023-025-03740-1

  9. Pepper, T., & Hegde, M. (2025). Comment on doi.org/10.1016/j.humgen.2024.201316 publication entitled “Germline mutations of the putative tumor suppressor gene PTEN/MMAC1 as molecular biomarker in prostate cancer.” Human Gene, 43, 201369. doi: 10.1016/j.humgen.2024.201369

  10. Stanich, P. P., Gofar, K., Roberts, M. E., & Hussan, H. (2025). Sirolimus for Colon Polyposis in PTEN Hamartoma Tumor Syndrome. Clinical and Translational Gastroenterology. doi: 10.14309/ctg.0000000000000871

  11. Yehia, L., Plitt, G., Tushar, A. M., Liu, D., Joo, J., Ni, Y., … Eng, C. (2025). Extended spectrum of cancers in PTEN hamartoma tumor syndrome. Npj Precision Oncology, 9(1), 61. doi: 10.1038/s41698-025-00847-3

     

2024

  1. Dhawan, A., Baitamouni, S., Liu, D., Busch, R., Klaas, P., Frazier, T. W., … Eng, C. (2024). Exploring the neurological features of individuals with germline PTEN variants: A multicenter study. Annals of Clinical and Translational Neurology. doi: 10.1002/acn3.52046

  2. Dhawan, A., Baitamouni, S., Liu, D., & Eng, C. (2024). Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome. Neurology, 103(7). doi: 10.1212/WNL.0000000000209844

  3. Frazier, T. W., Busch, R. M., Klaas, P., Lachlan, K., Jeste, S., Kolevzon, A., … Uljarevic, M. (2024). Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability. Autism Research. doi: 10.1002/aur.3290

  4. Frazier, T. W., Busch, R. M., Klaas, P., Lachlan, K., Loth, E., Smith‐Hicks, C., … Uljarevic, M. (2024). Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders. Developmental Medicine & Child Neurology. doi: 10.1111/dmcn.16112

  5. Hendricks, L. A. J., Verbeek, K. C. J., Schuurs-Hoeijmakers, J. H. M., Mensenkamp, A. R., Brems, H., de Putter, R., … Vos, J. R. (2024). Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS). Cancers, 16(5). doi: 10.3390/cancers16050953

  6. Liu, D., Yehia, L., Dhawan, A., Ni, Y., & Eng, C. (2024). Cell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome. Cell Reports Medicine, 5(2), 101384. doi: 10.1016/j.xcrm.2023.101384

  7. Papadopoulos, P. Friess, T. Kowalke, T. Fieblinger, A.Carbone, S. Modolo, … P. Elvin. (2024). Microelectrode array (MEA) for assessing neuronal network restoration in PTEN knockdown primary hippocampal neurons. Society for Neuroscience Annual Meeting, Chicago.

  8. Schei‐Andersen, A. J., Hendricks, L. A. J., van der Post, R. S., Mensenkamp, A. R., Schieving, J., Schuurs‐Hoeijmakers, J. H. M., … Vos, J. R. (2024). Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single‐center study. International Journal of Cancer. doi: 10.1002/ijc.35049

  9. Schei-Andersen, A. J., van Oirschot, B., Drissen, M. M. C. M., Schieving, J., Schuurs-Hoeijmakers, J. H. M., Vos, J. R., … Hoogerbrugge, N. (2024). Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome. International Dental Journal. doi: 10.1016/j.identj.2024.04.014

2023

  1. Busch, R. M., Frazier II, T. W., Sonneborn, C., Hogue, O., Klaas, P., Srivastava, S., … Eng, C. (2023). Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. Journal of Neurodevelopmental Disorders, 15(1), 3. doi: 10.1186/s11689-022-09468-4

  2. Centofanti, F., Buono, A., Verboni, M., Tomino, C., Lucarini, S., Duranti, A., … Novelli, G. (2023). Synthetic Methodologies and Therapeutic Potential of Indole-3-Carbinol (I3C) and Its Derivatives. Pharmaceuticals, 16(2), 240. doi: 10.3390/ph16020240

  3. Frazier, T. W., Busch, R. M., Klaas, P., Lachlan, K., Jeste, S., Kolevzon, A., … Uljarević, M. (2023). Development of informant‐report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes. American Journal of Medical Genetics Part A. doi: 10.1002/ajmg.a.63195

  4. Frazier, T. W., Busch, R. M., Klaas, P., Lachlan, K., Jeste, S., Kolevzon, A., … Uljarević, M. (2023). Development of webcam‐collected and artificial‐intelligence‐derived social and cognitive performance measures for neurodevelopmental genetic syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. doi: 10.1002/ajmg.c.32058

  5. Hendricks, L. A. J., Hoogerbrugge, N., Mensenkamp, A. R., Brunet, J., Lleuger-Pujol, R., Høberg-Vetti, H., … Vos, J. R. (2023). Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome. Journal of the National Cancer Institute, 115(1), 93–103. doi: 10.1093/jnci/djac188

  6. Papadopoulos, C., Rudolph, J., Mueller, K., Friess, P., Tan, C., Spasova, A., … Elvin, P. (2023). Development and characterisation of cell-based models of PTEN Hamartoma Tumour Syndrome. Society for Neuroscience Annual Meeting, Washington DC.

  7. Torices, L., Nunes-Xavier, C. E., López, J. I., & Pulido, R. (2023). Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants. PLOS ONE, 18(8), e0289369. doi: 10.1371/journal.pone.0289369

  8. Uljarević, M., Cai, R. Y., Hardan, A. Y., & Frazier, T. W. (2023). Development and validation of the Executive Functioning Scale. Frontiers in Psychiatry, 13. doi: 10.3389/fpsyt.2022.1078211

  9. Uljarević, M., Spackman, E. K., Cai, R. Y., Paszek, K. J., Hardan, A. Y., & Frazier, T. W. (2023). Daily living skills scale: Development and preliminary validation of a new, open-source assessment of daily living skills. Frontiers in Psychiatry, 13. doi: 10.3389/fpsyt.2022.1108471

  10. Wei, R., Yehia, L., Ni, Y., & Eng, C. (2023). The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome. Human Genetics and Genomics Advances, 4(3), 100199. doi: 10.1016/j.xhgg.2023.100199

  11. Yehia, L., Centomo, M. L., Pandolfi, P. P., & Eng, C. (2023). Two’s Company, Three’s a Crowd: Rb1/Trp53/Pten Trifecta and Lung Cancer Molecular and Histopathologic Heterogeneity. Journal of Thoracic Oncology, 18(3), 260–261. doi: 10.1016/j.jtho.2022.12.011

  12. Yehia, L., Heald, B., & Eng, C. (2023). Clinical Spectrum and Science Behind the Hamartomatous Polyposis Syndromes. Gastroenterology. doi: 10.1053/j.gastro.2023.01.026

  13. Yehia, L., Plitt, G., Tushar, A. M., Joo, J., Burke, C. A., Campbell, S. C., … Eng, C. (2023). Longitudinal Analysis of Cancer Risk in Children and Adults With Germline PTEN Variants. JAMA Network Open, 6(4), e239705. doi: 10.1001/jamanetworkopen.2023.9705

2022

  1. Frazier, T. W., Crowley, E., Shih, A., Vasudevan, V., Karpur, A., Uljarevic, M., & Cai, R. Y. (2022). Associations between executive functioning, challenging behavior, and quality of life in children and adolescents with and without neurodevelopmental conditions. Frontiers in Psychology, 13. doi: 10.3389/fpsyg.2022.1022700

  2. Hendricks, L. A. J., Hoogerbrugge, N., Venselaar, H., Aretz, S., Spier, I., Legius, E., … Vos, J. R. (2022). Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort. European Journal of Medical Genetics, 65(12), 104632. doi: 10.1016/j.ejmg.2022.104632

  3. Hendricks, L. A. J., Schuurs-Hoeijmakers, J., Spier, I., Haadsma, M. L., Eijkelenboom, A., Cremer, K., … Hoogerbrugge, N. (2022). Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review. European Journal of Medical Genetics, 65(7), 104533. doi: 10.1016/j.ejmg.2022.104533

  4. Kobialka, P., Sabata, H., Vilalta, O., Gouveia, L., Angulo‐Urarte, A., Muixí, L., … Graupera, M. (2022). The onset of PI3K-related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib. EMBO Molecular Medicine. doi: 10.15252/EMMM.202115619

  5. Lauder, S. N., Smart, K., Bart, V. M. T., Pires, A., Scott, J., Milutinovic, S., … Gallimore, A. (2022). Treg-driven tumour control by PI3Kδ inhibition limits myeloid-derived suppressor cell expansion. British Journal of Cancer, 127(9), 1595–1602. doi: 10.1038/s41416-022-01917-0

  6. Monelli, E., Villacampa, P., Zabala-Letona, A., Martinez-Romero, A., Llena, J., Beiroa, D., … Graupera, M. (2022). Angiocrine polyamine production regulates adiposity. Nature Metabolism, 4(3), 327–343. doi: 10.1038/S42255-022-00544-6
  7. Morgan, F. C., Yehia, L., McDonald, C., Martinez-Agosto, J. A., Hardan, A. Y., Tamburro, J., … Eng, C. (2022). Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study. Journal of the American Academy of Dermatology. doi: 10.1016/J.JAAD.2022.01.045

  8. Papa, A., & Pandolfi, P. P. (2022). PTEN in Immunity. In Dominguez-Villar, M (ed) PI3K and AKT Isoforms in Immunity. Current Topics in Microbiology and Immunology, vol 436. Springer, Cham. doi: 10.1007/978-3-031-06566-8_4

  9. Song, M. S., & Pandolfi, P. P. (2022). The HECT family of E3 ubiquitin ligases and PTEN. Seminars in Cancer Biology, 85, 43–51. doi: 10.1016/j.semcancer.2021.06.012 

  10. Srivastava, S., Jo, B., Zhang, B., Frazier, T., Gallagher, A. S., Peck, F., … Hardan, A. (2022). A randomized controlled trial of Everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome. Human Molecular Genetics. doi: 10.1093/HMG/DDAC111

  11. Tibarewal, P., Rathbone, V., Constantinou, G., Pearce, W., Adil, M., Varyova, Z., … Vanhaesebroeck, B. (2022). Long‐term treatment of cancer‐prone germline PTEN mutant mice with low‐dose rapamycin extends lifespan and delays tumour development. The Journal of Pathology, 258(4), 382–394. doi: 10.1002/path.6009

  12. Torices, L., Mingo, J., Rodríguez-Escudero, I., Fernández-Acero, T., Luna, S., Nunes-Xavier, C. E., … Pulido, R. (2022). Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease. European Journal of Human Genetics. doi: 10.1038/s41431-022-01265-w

  13. Uljarević, M., Frazier, T. W., Rached, G., Busch, R. M., Klaas, P., Srivastava, S., … Hardan, A. Y. (2022). Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. Journal of Autism and Developmental Disorders, 52(1), 414–422. doi: 10.1007/s10803-021-04881-5

  14. Vanhaesebroeck, B., Burke, J. E., & Madsen, R. R. (2022). Precision Targeting of Mutant PI3Kα in Cancer by Selective Degradation. Cancer Discovery, 12(1), 20–22. doi: 10.1158/2159-8290.CD-21-1411

  15. Yehia, L., Ni, Y., Sadler, T., Frazier, T. W., & Eng, C. (2022). Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations. NPJ Genomic Medicine, 7(1). doi: 10.1038/S41525-022-00289-X

2021

  1. Hardan, A. Y., Jo, B., Frazier, T. W., Klaas, P., Busch, R. M., Dies, K. A., … Sahin, M. (2021). A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations. Contemporary Clinical Trials Communications, 21. doi: 10.1016/j.conctc.2021.100733
  2. Hendricks, L. A. J., Hoogerbrugge, N., Schuurs-Hoeijmakers, J. H. M., & Vos, J. R. (2021, February 1). A review on age-related cancer risks in PTEN hamartoma tumor syndrome. Clinical Genetics, Vol. 99, pp. 219–225. Blackwell Publishing Ltd. doi: 10.1111/cge.13875
  3. Jia, M., Sangwan, N., Tzeng, A., & Eng, C. (2021). Interplay Between Class II HLA Genotypes and the Microbiome and Immune Phenotypes in Individuals With PTEN Hamartoma Tumor Syndrome. JCO Precision Oncology, 5(5), 357–369. doi: 10.1200/PO.20.00374
  4. Kaymakcalan, H., Kaya, İ., Cevher Binici, N., Nikerel, E., Özbaran, B., Görkem Aksoy, M., … Ercan-Sencicek, A. G. (2021). Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly. Molecular Genetics & Genomic Medicine, 9(8). doi: 10.1002/MGG3.1739
  5. Steele, M., Uljarević, M., Rached, G., Frazier, T. W., Phillips, J. M., Libove, R. A., … Hardan, A. Y. (2021). Psychiatric Characteristics Across Individuals With PTEN Mutations. Frontiers in Psychiatry, 12. doi: 10.3389/FPSYT.2021.672070
  6. Yehia, L., & Eng, C. (2021). PTEN Hamartoma Tumor Syndrome. Gene Reviews NCBI Bookshelf. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1488/
  7. Yehia, L., & Eng, C. (2021). PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation? Human Molecular Genetics, Vol. 29, pp. R150–R157. Oxford University Press. doi: 10.1093/HMG/DDAA127

2020

  1. Frazier, T. W., Jaini, R., Busch, R. M., Wolf, M., Sadler, T., Klaas, P., … Eng, C. (2020). Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism. Molecular Autism, 12, 5. doi: 10.1186/s13229-020-00406-6
  2. Mighell, T. L., Thacker, S., Fombonne, E., Eng, C., & O’Roak, B. J. (2020). An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships. American Journal of Human Genetics, 106(6), 818–829. doi: 10.1016/j.ajhg.2020.04.014
  3. Novelli, G., Novelli, A., Borgiani, P., Cocciadiferro, D., Biancolella, M., Agolini, E., … Pandolfi, P. P. (2020). WWP1 germline variants are associated with normocephalic autism spectrum disorder. Cell Death Dis, 11(7), 529. doi: 10.1038/s41419-020-2681-z
  4. Shao, D. D., Achkar, C. M., Lai, A., Srivastava, S., Doan, R. N., Rodan, L. H., … Tan, W. H. (2020). Polymicrogyria is Associated With Pathogenic Variants in PTEN. Annals of Neurology, 88(6), 1153–1164. doi: 10.1002/ANA.25904
  5. Tischkowitz, M., Colas, C., Pouwels, S., Hoogerbrugge, N., PHTS Guideline Development Group, & The European Reference Network GENTURIS. (2020). Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome. European Journal of Human Genetics, 28, 1387–1393. doi: 10.1038/s41431-020-0651-7
  6. Yehia, L., Seyfi, M., Niestroj, L. M., Padmanabhan, R., Ni, Y., Frazier, T. W., … Eng, C. (2020). Copy Number Variation and Clinical Outcomes in Patients with Germline PTEN Mutations. JAMA Network Open, 3(1). doi: 10.1001/jamanetworkopen.2019.20415

2019

  1. Álvarez-Garcia, V., Tawil, Y., Wise, H. M., & Leslie, N. R. (2019). Mechanisms of PTEN loss in cancer: It’s all about diversity. Seminars in Cancer Biology, 59, 66–79. doi: 10.1016/J.SEMCANCER.2019.02.001
  2. Busch, R. M., Srivastava, S., Hogue, O., Frazier, T. W., Klaas, P., Hardan, A., … Eng, C. (2019). Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry, 9(1), 253. doi: 10.1038/s41398-019-0588-1
  3. Yehia, L., Ngeow, J., & Eng, C. (2019). PTEN-opathies: from biological insights to evidence-based precision medicine. J Clin Invest, 129(2), 452–464. doi: 10.1172/JCI121277

2017

  1. Leslie, N. R. (2017). Importin-11 keeps PTEN safe from harm. The Journal of Cell Biology, 216(3), 539. doi: 10.1083/JCB.201612014

Research projects and publications

Projects and publications Case study : Cancer outcomes Case study: Identification of genomic modifiers Case study: PHTS specific neurobehavioural evaluation tools Case study: Repurposing PI3K pathway modulators
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