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@ARTICLE{Brando:165825,
      author       = {A. Brandão and P. Paulo and S. Maia and M. Pinheiro and A.
                      Peixoto and M. Cardoso and M. P. Silva and C. Santos and R.
                      A. Eeles and Z. Kote-Jarai and K. Muir and Ukgpcs
                      Collaborators and J. Schleutker and Y. Wang and N. Pashayan
                      and J. Batra and Apcb BioResource and H. Grönberg and D. E.
                      Neal and B. G. Nordestgaard and C. M. Tangen and M. C.
                      Southey and A. Wolk and D. Albanes and C. A. Haiman and R.
                      C. Travis and J. L. Stanford and L. A. Mucci and C. M. L.
                      West and S. F. Nielsen and A. S. Kibel and O. Cussenot and
                      S. I. Berndt and S. Koutros and K. D. Sørensen and C.
                      Cybulski and E. M. Grindedal and J. Y. Park and S. A. Ingles
                      and C. Maier and R. J. Hamilton and B. S. Rosenstein and A.
                      Vega and The Impact Study Steering Committee And
                      Collaborators and M. Kogevinas and F. Wiklund and K. L.
                      Penney and H. Brenner$^*$ and E. M. John and R. Kaneva and
                      C. J. Logothetis and S. L. Neuhausen and K. D. Ruyck and A.
                      Razack and L. F. Newcomb and Canary Pass Investigators and
                      D. Lessel and N. Usmani and F. Claessens and M.
                      Gago-Dominguez and P. A. Townsend and M. J. Roobol and The
                      Profile Study Steering Committee and The Practical
                      Consortium and M. R. Teixeira},
      title        = {{T}he {CHEK}2 {V}ariant ${C}.349{A}\>{G}$ {I}s {A}ssociated
                      with {P}rostate {C}ancer {R}isk and {C}arriers {S}hare a
                      {C}ommon {A}ncestor.},
      journal      = {Cancers},
      volume       = {12},
      number       = {11},
      issn         = {2072-6694},
      address      = {Basel},
      publisher    = {MDPI},
      reportid     = {DKFZ-2020-02405},
      pages        = {3254},
      year         = {2020},
      abstract     = {The identification of recurrent founder variants in cancer
                      predisposing genes may have important implications for
                      implementing cost-effective targeted genetic screening
                      strategies. In this study, we evaluated the prevalence and
                      relative risk of the CHEK2 recurrent variant c.349A>G in a
                      series of 462 Portuguese patients with early-onset and/or
                      familial/hereditary prostate cancer (PrCa), as well as in
                      the large multicentre PRACTICAL case-control study
                      comprising 55,162 prostate cancer cases and 36,147 controls.
                      Additionally, we investigated the potential shared ancestry
                      of the carriers by performing identity-by-descent, haplotype
                      and age estimation analyses using high-density SNP data from
                      70 variant carriers belonging to 11 different populations
                      included in the PRACTICAL consortium. The CHEK2 missense
                      variant c.349A>G was found significantly associated with an
                      increased risk for PrCa (OR 1.9; $95\%$ CI: 1.1-3.2). A
                      shared haplotype flanking the variant in all carriers was
                      identified, strongly suggesting a common founder of European
                      origin. Additionally, using two independent statistical
                      algorithms, implemented by DMLE+2.3 and ESTIAGE, we were
                      able to estimate the age of the variant between 2300 and
                      3125 years. By extending the haplotype analysis to 14
                      additional carrier families, a shared core haplotype was
                      revealed among all carriers matching the conserved region
                      previously identified in the high-density SNP analysis.
                      These findings are consistent with CHEK2 c.349A>G being a
                      founder variant associated with increased PrCa risk,
                      suggesting its potential usefulness for cost-effective
                      targeted genetic screening in PrCa families.},
      cin          = {C070 / C120 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {313 - Cancer risk factors and prevention (POF3-313)},
      pid          = {G:(DE-HGF)POF3-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33158149},
      doi          = {10.3390/cancers12113254},
      url          = {https://inrepo02.dkfz.de/record/165825},
}