Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/223521
Title: The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)
Author: Hendricks, Linda A.J.
Verbeek, Katja C. J.
Schuurs Hoeijmakers, Janneke H.M.
De Jong, Mirjam M.
Links, Thera P.
Brems, Hilde
Aerden, Mio
Brunet, Joan
Lleuger Pujol, Roser
Hüneburg, Robert
Aretz, Stefan
Colas, Chrystelle
Villy, Marie Charlotte
Woodward, Emma R.
Gareth Evans, D.
Bosch, Daniëlle G.M.
Donze, Stephany H.
Foretova, Lenka
Blatnik, Ana
Leter, Edward M.
Tischkowitz, Marc
Jahn, Arne
Putter, Robin de
Dupont, Juliette
Briskemyr, Siri
Steinke-Lange, Verena
Baldassarri, Margherita
Anastasiadou, Violetta C.
Irmejs, Arvids
Oliveira, Carla
Post, Rachel S. van der
Mensenkamp, Arjen R.
Tesi, Bianca
Mu, Ninni
Benusiglio, Patrick R.
Gerasimenko, Anna
Innella, Giovanni
Turchetti, Daniela
Houdayer, Claude
Branchaud, Maud
Høberg-Vetti, Hildegunn
Tveit Haavind, Marianne
Balmaña, Judith
Torres, Maite
Genuardi, Maurizio
Panfili, Arianna
Jørgensen, Kjersti
Mæhle, Lovise
Hoogerbrugge, Nicoline
Vos, Janet R.
Keywords: Càncer d'ovari
Ovarian cancer
Càncer de mama
Marcadors tumorals
Tumor markers
Breast cancer
Issue Date: 24-May-2025
Publisher: Elsevier
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. (c) 2025 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Note: Reproducció del document publicat a: https://doi.org/10.1016/j.gim.2025.101467
It is part of: Genetics in Medicine, 2025, vol. 27, num. 10, 101467
URI: https://hdl.handle.net/2445/223521
Related resource: https://doi.org/10.1016/j.gim.2025.101467
ISSN: 1530‑0366
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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