dc.contributor
Institut Català de la Salut
dc.contributor
[Hendricks LAJ, Verbeek KCJ] Department of Human Genetics, Radboudumc expert center for PHTS, Radboud university medical center, Nijmegen, The Netherlands. Radboud university medical center, Radboud Institute for Medical Innovation, Nijmegen, The Netherlands. [Schuurs-Hoeijmakers JHM] Department of Human Genetics, Radboudumc expert center for PHTS, Radboud university medical center, Nijmegen, The Netherlands. [de Jong MM] Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. [Links TP] Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. [Brems H] Center for Human Genetics, University Hospital Leuven, University of Leuven, Leuven, Belgium. [Balmaña J, Torres M] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Hendricks, Linda
dc.contributor.author
Schuurs-Hoeijmakers, Janneke
dc.contributor.author
de Jong, Mirjam M.
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Links, Thera
dc.contributor.author
Verbeek, Katja
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Brems, Hilde
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Balmaña, Judith
dc.contributor.author
Torres López, Maite
dc.date.accessioned
2025-11-04T17:46:32Z
dc.date.available
2025-11-04T17:46:32Z
dc.date.issued
2025-11-03T08:28:00Z
dc.date.issued
2025-11-03T08:28:00Z
dc.identifier
Hendricks LAJ, Verbeek KCJ, Schuurs-Hoeijmakers JHM, de Jong MM, Links TP, Brems H, et al. The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS). Genet Med. 2025 Oct;27(10):101467.
dc.identifier
http://hdl.handle.net/11351/13996
dc.identifier
10.1016/j.gim.2025.101467
dc.identifier
001567748000001
dc.identifier.uri
http://hdl.handle.net/11351/13996
dc.description.abstract
PTEN hamartoma tumor syndrome; Hereditary cancer; Second primary cancer risk
dc.description.abstract
Síndrome de tumor hamartoma PTEN; Cáncer hereditario; Riesgo de segundo cáncer primario
dc.description.abstract
Síndrome de tumor hamartoma PTEN; Càncer hereditari; Risc de segon càncer primari
dc.description.abstract
Purpose
Patients with PTEN Hamartoma Tumor Syndrome (PHTS) have high hereditary cancer risks for breast, endometrial, and thyroid cancer. Patients develop multiple primary cancers, but these risks remain uncertain. We aimed to provide the second primary cancer risk.
Methods
This European cohort study assessed second primary cancer risks with Kaplan-Meier analyses using data from medical files, registries and/or patient questionnaires.
Results
Overall, 279 adult PHTS patients with (a history of) cancer were included (80% female). Among females, 106 (54%) developed a PHTS-related second primary cancer after a PHTS-related first primary cancer, whereas 10 (29%) males developed a PHTS-related second primary cancer after a PHTS-related first primary cancer. The 5- and 10-year PHTS-related second primary cancer risks were 24.5% (95% CI = 18.1-32.5) and 45.7% (95% CI = 36.9-55.4) in females and 14.5% (95% CI = 5.7-34.1) and 19.8% (95% CI = 8.6-41.9) in males, respectively. Furthermore, 5- and 10-year risks for a second primary breast cancer after a first primary breast cancer were 23.3% (95% CI = 14.9-35.2) and 45.6% (95% CI = 33.0-60.2) in females, respectively.
Conclusion
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.
dc.description.abstract
This work has been funded, in part, by the PTEN Research Foundation, a charity governed by English law (charity number 117358) to L.A.J.H. and J.R.V. under grant number RUM 17-002 and the European Union under Horizon Europe to K.C.J.V. under grant number 101095483.
dc.format
application/pdf
dc.relation
Genetics in Medicine;27(10)
dc.relation
https://doi.org/10.1016/j.gim.2025.101467
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Càncer - Aspectes genètics
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Cèl·lules - Proliferació
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Càncer - Factors de risc
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DISEASES::Neoplasms::Neoplasms, Second Primary
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CHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Hydrolases::Esterases::Phosphoric Monoester Hydrolases::PTEN Phosphohydrolase
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DISEASES::Neoplasms::Hamartoma::Hamartoma Syndrome, Multiple
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ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors
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DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease
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ENFERMEDADES::neoplasias::neoplasias primarias secundarias
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COMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::hidrolasas::esterasas::monoéster fosfórico hidrolasas::PTEN fosfohidrolasa
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ENFERMEDADES::neoplasias::hamartoma::síndrome de hamartomas múltiples
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TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::estadística como asunto::probabilidad::riesgo::factores de riesgo
dc.subject
ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad
dc.title
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
