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@ARTICLE{Figlioli:277739,
      author       = {G. Figlioli and A. Billaud and Q. Wang and M. K. Bolla and
                      J. Dennis and M. Lush and A. Kvist and M. A. Adank and T. U.
                      Ahearn and N. N. Antonenkova and P. Auvinen and S.
                      Behrens$^*$ and M. Bermisheva and N. V. Bogdanova and S. E.
                      Bojesen and B. Bonanni and T. Brüning and N. J. Camp and A.
                      Campbell and J. E. Castelao and M. H. Cessna and Nbcs
                      Collaborators and K. Czene and P. Devilee and T. Dörk and
                      M. Eriksson and P. A. Fasching and H. Flyger and M.
                      Gabrielson and M. Gago-Dominguez and M. García-Closas and
                      G. Glendon and E. B. Gómez Garcia and A. González-Neira
                      and F. Grassmann and P. Guénel and E. Hahnen and U.
                      Hamann$^*$ and P. Hillemanns and M. J. Hooning and R. Hoppe
                      and A. Howell and K. Humphreys and kConFab Investigators and
                      A. Jakubowska and E. K. Khusnutdinova and V. N. Kristensen
                      and A. Lindblom and M. A. Loizidou and J. Lubiński and A.
                      Mannermaa and T. Maurer and D. Mavroudis and W. G. Newman
                      and N. Obi and M. I. Panayiotidis and P. Radice and M. U.
                      Rashid and V. Rhenius and M. Ruebner and E. Saloustros and
                      E. J. Sawyer and M. K. Schmidt and R. K. Schmutzler and M.
                      Shah and M. C. Southey and I. Tomlinson and T. Truong and E.
                      M. van Veen and C. Wendt and X. R. Yang and K. Michailidou
                      and A. M. Dunning and P. D. P. Pharoah and D. F. Easton and
                      I. L. Andrulis and D. G. Evans and A. Hollestelle and J.
                      Chang-Claude$^*$ and R. L. Milne and P. Peterlongo},
      title        = {{S}pectrum and {F}requency of {G}ermline {FANCM}
                      {P}rotein-{T}runcating {V}ariants in 44,803 {E}uropean
                      {F}emale {B}reast {C}ancer {C}ases.},
      journal      = {Cancers},
      volume       = {15},
      number       = {13},
      issn         = {2072-6694},
      address      = {Basel},
      publisher    = {MDPI},
      reportid     = {DKFZ-2023-01456},
      pages        = {3313},
      year         = {2023},
      abstract     = {FANCM germline protein truncating variants (PTVs) are
                      moderate-risk factors for ER-negative breast cancer. We
                      previously described the spectrum of FANCM PTVs in 114
                      European breast cancer cases. In the present, larger cohort,
                      we report the spectrum and frequency of four common and 62
                      rare FANCM PTVs found in 274 carriers detected among 44,803
                      breast cancer cases. We confirmed that p.Gln1701* was the
                      most common PTV in Northern Europe with lower frequencies in
                      Southern Europe. In contrast, p.Gly1906Alafs*12 was the most
                      common PTV in Southern Europe with decreasing frequencies in
                      Central and Northern Europe. We verified that p.Arg658* was
                      prevalent in Central Europe and had highest frequencies in
                      Eastern Europe. We also confirmed that the fourth most
                      common PTV, p.Gln498Thrfs*7, might be a founder variant from
                      Lithuania. Based on the frequency distribution of the
                      carriers of rare PTVs, we showed that the FANCM PTVs spectra
                      in Southwestern and Central Europe were much more
                      heterogeneous than those from Northeastern Europe. These
                      findings will inform the development of more efficient FANCM
                      genetic testing strategies for breast cancer cases from
                      specific European populations.},
      keywords     = {FANCM PTVs spectrum (Other) / PTVs (Other) / breast cancer
                      predisposition (Other) / breast cancer risk factors (Other)
                      / protein truncating variants (Other)},
      cin          = {C020 / B072 / B070},
      ddc          = {610},
      cid          = {I:(DE-He78)C020-20160331 / I:(DE-He78)B072-20160331 /
                      I:(DE-He78)B070-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37444426},
      pmc          = {pmc:PMC10340689},
      doi          = {10.3390/cancers15133313},
      url          = {https://inrepo02.dkfz.de/record/277739},
}