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@ARTICLE{CabreraSerrano:276066,
      author       = {A. J. Cabrera-Serrano and J. M. Sánchez-Maldonado and R.
                      Ter Horst and A. Macauda$^*$ and P. García-Martín and Y.
                      Benavente and S. Landi and A. Clay-Gilmour and Y. Niazi$^*$
                      and B. Espinet and J. J. Rodríguez-Sevilla and E. M. Pérez
                      and R. Maffei and G. Blanco and M. Giaccherini and J. R.
                      Cerhan and R. Marasca and M. Á. López-Nevot and T.
                      Chen-Liang and H. Thomsen and I. Gámez and D. Campa and V.
                      Moreno and S. de Sanjosé and R. Marcos-Gragera and M.
                      García-Álvarez and T. Dierssen-Sotos and A. Jerez and A.
                      Butrym and A. D. Norman and M. Luppi and S. L. Slager and K.
                      Hemminki$^*$ and Y. Li and S. I. Berndt and D. Casabonne and
                      M. Alcoceba and A. Puiggros and M. G. Netea and A.
                      Försti$^*$ and F. Canzian$^*$ and J. Sainz},
      title        = {{D}o {GWAS}-{I}dentified {R}isk {V}ariants for {C}hronic
                      {L}ymphocytic {L}eukemia {I}nfluence {O}verall {P}atient
                      {S}urvival and {D}isease {P}rogression?},
      journal      = {International journal of molecular sciences},
      volume       = {24},
      number       = {9},
      issn         = {1422-0067},
      address      = {Basel},
      publisher    = {Molecular Diversity Preservation International},
      reportid     = {DKFZ-2023-00972},
      pages        = {8005},
      year         = {2023},
      abstract     = {Chronic lymphocytic leukemia (CLL) is the most common
                      leukemia among adults worldwide. Although genome-wide
                      association studies (GWAS) have uncovered the germline
                      genetic component underlying CLL susceptibility, the
                      potential use of GWAS-identified risk variants to predict
                      disease progression and patient survival remains unexplored.
                      Here, we evaluated whether 41 GWAS-identified risk variants
                      for CLL could influence overall survival (OS) and disease
                      progression, defined as time to first treatment (TTFT) in a
                      cohort of 1039 CLL cases ascertained through the CRuCIAL
                      consortium. Although this is the largest study assessing the
                      effect of GWAS-identified susceptibility variants for CLL on
                      OS, we only found a weak association of ten single
                      nucleotide polymorphisms (SNPs) with OS (p < 0.05) that did
                      not remain significant after correction for multiple
                      testing. In line with these results, polygenic risk scores
                      (PRSs) built with these SNPs in the CRuCIAL cohort showed a
                      modest association with OS and a low capacity to predict
                      patient survival, with an area under the receiver operating
                      characteristic curve (AUROC) of 0.57. Similarly, seven SNPs
                      were associated with TTFT (p < 0.05); however, these did not
                      reach the multiple testing significance threshold, and the
                      meta-analysis with previous published data did not confirm
                      any of the associations. As expected, PRSs built with these
                      SNPs showed reduced accuracy in prediction of disease
                      progression (AUROC = 0.62). These results suggest that
                      susceptibility variants for CLL do not impact overall
                      survival and disease progression in CLL patients.},
      keywords     = {Adult / Humans / Leukemia, Lymphocytic, Chronic, B-Cell:
                      genetics / Genome-Wide Association Study / Risk Factors /
                      Disease Progression / Genetic Predisposition to Disease /
                      Polymorphism, Single Nucleotide / TTFT (Other) / chronic
                      lymphocytic leukemia (Other) / genetic variants (Other) /
                      overall survival (Other) / polygenic risk score (Other) /
                      susceptibility (Other)},
      cin          = {C055 / B062 / HD01 / C020},
      ddc          = {540},
      cid          = {I:(DE-He78)C055-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)C020-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37175717},
      pmc          = {pmc:PMC10178669},
      doi          = {10.3390/ijms24098005},
      url          = {https://inrepo02.dkfz.de/record/276066},
}