The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)
This study demonstrated that PHTS patients have high second primary cancer risks, which is driven by breast cancer in females. Hence, identifying patients with PHTS before or at first primary cancer diagnosis is essential to enable potential early detection or prevention of a second primary cancer through surveillance or risk-reducing surgery.
Authors
- Stephany Donze (ORCID: https://orcid.org/0000-0002-9249-4284)
- Claude Houdayer (ORCID: https://orcid.org/0000-0002-5190-0389)
- Giovanni Innella (ORCID: https://orcid.org/0000-0002-6909-2412)
- Hildegunn Høberg‐Vetti (ORCID: https://orcid.org/0000-0002-9876-576X)
- Patrick R. Benusiglio (ORCID: https://orcid.org/0000-0003-1003-1997)
- Bianca Tesi (ORCID: https://orcid.org/0000-0002-8253-2507)
- Violetta Anastasiadou (ORCID: https://orcid.org/0000-0001-5096-8704)
- Ana Blatnik (ORCID: https://orcid.org/0000-0001-8657-9380)
- Marianne Tveit Haavind
- Daniela Turchetti (ORCID: https://orcid.org/0000-0002-6792-3921)
- Mio Aerden (ORCID: https://orcid.org/0000-0001-5044-2120)
- Nicoline Hoogerbrugge (ORCID: https://orcid.org/0000-0003-2393-8141)
- Daniëlle G.M. Bosch
- Maurizio Genuardi (ORCID: https://orcid.org/0000-0002-7410-8351)
- Stefan Aretz (ORCID: https://orcid.org/0000-0002-5228-1890)
- Arne Jahn (ORCID: https://orcid.org/0000-0003-1045-1908)
- Hilde Brems (ORCID: https://orcid.org/0000-0002-0325-4060)
- Rachel S. van der Post
- Robert Hüneburg (ORCID: https://orcid.org/0000-0001-9957-8299)
- Arjen R. Mensenkamp (ORCID: https://orcid.org/0000-0003-3805-877X)
- Arvīds Irmejs (ORCID: https://orcid.org/0000-0002-0538-1194)
- Ninni Mu (ORCID: https://orcid.org/0000-0002-3887-880X)
- Emma R. Woodward (ORCID: https://orcid.org/0000-0002-6297-2855)
- Roser Lleuger-Pujol
- Chrystelle Colas (ORCID: https://orcid.org/0000-0001-9146-9346)
- Margherita Baldassarri (ORCID: https://orcid.org/0000-0002-0391-1980)
- Janet R. Vos (ORCID: https://orcid.org/0000-0001-8802-7002)
- Lenka Foretová (ORCID: https://orcid.org/0000-0003-0494-2620)
- Maud Branchaud
- Anna Gerasimenko (ORCID: https://orcid.org/0000-0001-7873-0992)
- Robin De Putter (ORCID: https://orcid.org/0000-0001-9410-8941)
- Marc Tischkowitz (ORCID: https://orcid.org/0000-0002-7880-0628)
- Marie‐Charlotte Villy (ORCID: https://orcid.org/0000-0002-5714-6612)
- Maite Torres (ORCID: https://orcid.org/0000-0002-2497-3478)
- Joan Brunet (ORCID: https://orcid.org/0000-0003-1945-3512)
- Kjersti Jørgensen
- Siri Briskemyr
- Arianna Panfili (ORCID: https://orcid.org/0009-0007-4701-7845)
- Edward M. Leter
- Carla Oliveíra (ORCID: https://orcid.org/0000-0001-8340-2264)
- Thera P. Links (ORCID: https://orcid.org/0000-0001-5327-1718)
- Verena Steinke‐Lange (ORCID: https://orcid.org/0000-0001-8491-3234)
- Katja C J Verbeek (ORCID: https://orcid.org/0000-0001-5981-6301)
- Janneke Schuurs-Hoeijmakers (ORCID: https://orcid.org/0000-0002-8900-2226)
- Lovise Mæhle
- Judith Balmañà (ORCID: https://orcid.org/0000-0002-0762-6415)
- Linda A.J. Hendricks (ORCID: https://orcid.org/0000-0002-1008-0265)
- D. Gareth Evans (ORCID: https://orcid.org/0000-0002-8482-5784)
- Juliette Dupont (ORCID: https://orcid.org/0000-0001-8257-5067)
- Mirjam M. de Jong
Institutions
- University of Siena (IT)
- Università Cattolica del Sacro Cuore (IT)
- Oslo University Hospital (NO)
- Centre National de la Recherche Scientifique (FR)
- University Hospital of North Norway (NO)
- University Medical Center Groningen (NL)
- Karolinska University Hospital (SE)
- Radboud University Nijmegen (NL)
- Inserm (FR)
- University of Groningen (NL)
- University of Cambridge (GB)
- University Hospital Bonn (DE)
- Haukeland University Hospital (NO)
- Ghent University Hospital (BE)
- Erasmus MC (NL)
- Agostino Gemelli University Polyclinic (IT)
- Radboud University Medical Center (NL)
- University of Manchester (GB)
- LMU Klinikum (DE)
- Institute of Oncology Ljubljana (SI)
- Maastricht University (NL)
- National Institute for Health and Care Research (GB)
- Sorbonne Université (FR)
- Institut d'Investigació Biomédica de Bellvitge (ES)
- St Mary's Hospital (GB)
- La Ligue Contre le Cancer (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Pauls Stradiņš Clinical University Hospital (LV)
- Center for Human Genetics (US)
- Normandie Université (FR)
- Institut Català d'Oncologia (ES)
- Radboud Institute for Molecular Life Sciences (NL)
- Institut d'Investigació Biomèdica de Girona (ES)
- Institut de Myologie (FR)
- Centro Hospitalar Lisboa Norte (PT)
- Masaryk Memorial Cancer Institute (CZ)
- Azienda USL di Bologna (IT)
- Pitié-Salpêtrière Hospital (FR)
- Vall d'Hebron Hospital Universitari (ES)
- Azienda Ospedaliera Universitaria Senese (IT)
- Archbishop Makarios III Hospital (CY)
- Institut du Cerveau (FR)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Centro de Investigación Biomédica en Red de Cáncer (ES)
- i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT)
- University Hospital Carl Gustav Carus (DE)
- Génomique du cancer et du cerveau
- Université de Rouen Normandie (FR)
- Technische Universität Dresden (DE)
- Institut Curie (FR)
- Erasmus University Rotterdam (NL)
- University of Bologna (IT)
- KU Leuven (BE)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2025-05-24
- DOI
- https://doi.org/10.1016/j.gim.2025.101467
- Citations
- 2
- Primary Topic
- PI3K/AKT/mTOR signaling in cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Università degli Studi di Siena
- PTEN Research
- National Institute for Health and Care Research
- European Commission
- Institut National de la Santé et de la Recherche Médicale
- Radboud Universiteit
- Universiteit Maastricht
- Technische Universität Dresden
- Universitair Ziekenhuis Gent
- Karolinska Institutet
- Ligue Contre le Cancer
- Universiteit Gent
- Maastricht Universitair Medisch Centrum
- Centre National de la Recherche Scientifique
- Università Cattolica del Sacro Cuore
- Università di Bologna
- Radboud Universitair Medisch Centrum
- Universidade do Porto
- Rheinische Friedrich-Wilhelms-Universität Bonn
- Assistance publique-Hôpitaux de Paris
- Haukeland Universitetssjukehus
- Deutschen Konsortium für Translationale Krebsforschung
- Région Normandie
- Sorbonne Université
- VID vitenskapelige høgskole
- Directorate for Biological Sciences
- HORIZON EUROPE Framework Programme
- NIHR Cambridge Biomedical Research Centre