% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Hendricks:301715,
      author       = {L. A. J. Hendricks and K. C. J. Verbeek and J. H. M.
                      Schuurs-Hoeijmakers and M. M. de Jong and T. P. Links and H.
                      Brems and M. Aerden and J. Brunet and R. Lleuger-Pujol and
                      R. Hüneburg and S. Aretz and C. Colas and M.-C. Villy and
                      E. R. Woodward and D. G. Evans and D. G. M. Bosch and S. H.
                      Donze and L. Foretová and A. Blatnik and E. M. Leter and M.
                      Tischkowitz and A. Jahn$^*$ and R. de Putter and J. Dupont
                      and S. Briskemyr and V. Steinke-Lange and M. Baldassarri and
                      V. C. Anastasiadou and A. Irmejs and C. Oliveira and R. S.
                      van der Post and A. R. Mensenkamp and B. Tesi and N. Mu and
                      P. R. Benusiglio and A. Gerasimenko and G. Innella and D.
                      Turchetti and C. Houdayer and M. Branchaud and H.
                      Høberg-Vetti and M. T. Haavind and J. Balmaña and M.
                      Torres and M. Genuardi and A. Panfili and K. Jørgensen and
                      L. Mæhle and N. Hoogerbrugge and J. R. Vos},
      title        = {{T}he risk of a second primary cancer in {PTEN} {H}amartoma
                      {T}umor {S}yndrome ({PHTS}).},
      journal      = {Genetics in medicine},
      volume       = {27},
      number       = {10},
      issn         = {1098-3600},
      address      = {Amsterdam},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2025-01107},
      pages        = {101467},
      year         = {2025},
      note         = {Volume 27, Issue 10, October 2025, 101467},
      abstract     = {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.This European cohort study
                      assessed second primary cancer risks with Kaplan-Meier
                      analyses using data from medical files and/or
                      registries.Overall, 279 adult patients with PHTS with cancer
                      were included $(80\%$ female). Among females, 112 $(54\%)$
                      developed a PHTS-related second primary cancer after
                      PHTS-related first primary cancer, whereas 11 $(30\%)$ males
                      developed a PHTS-related second primary cancer after
                      PHTS-related first primary cancer. Five- and ten-year
                      PHTS-related second primary cancer risks were $23\%$
                      $(95\%CI=16-31)$ and $46\%$ $(95\%CI=37-56)$ for females,
                      and $18\%$ $(95\%CI=8-38)$ and $23\%$ $(95\%CI=11-45)$ for
                      males, respectively. Furthermore, five- and ten-year risks
                      for second primary breast cancer after first primary breast
                      cancer were $23\%$ $(95\%CI=15-35)$ and $46\%$
                      $(95\%CI=33-60),$ respectively.This study demonstrated that
                      patients with PHTS 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 second primary cancer through
                      surveillance or risk-reducing surgery.},
      keywords     = {PTEN (Other) / PTEN Hamartoma Tumor Syndrome (Other) /
                      hereditary cancer (Other) / second primary cancer risk
                      (Other)},
      cin          = {DD01},
      ddc          = {610},
      cid          = {I:(DE-He78)DD01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40433764},
      doi          = {10.1016/j.gim.2025.101467},
      url          = {https://inrepo02.dkfz.de/record/301715},
}