The spectrum of fancm protein truncating variants in European breast cancer cases

G. Figlioli, A. Kvist, E. Tham, J. Soukupova, P. Kleiblova, T.A. Muranen, N. Andrieu, J. Azzollini, J. Balmaña, A. Barroso, J. Benítez, B. Bertelsen, A. Blanco, B. Bonanni, Å. Borg, J. Brunet, D. Calistri, M. Calvello, S. Chvojka, L. CortesiE. Darder, J. Del Valle, O. Diez, S. Eon-Marchais, F. Fostira, F. Gensini, C. Houdayer, M. Janatova, J.I. Kiiski, I. Konstantopoulou, K. Kubelka-Sabit, C. Lázaro, F. Lesueur, S. Manoukian, R. Marcinkute, U. Mickys, V. Moncoutier, A. Myszka, T. Nguyen-Dumont, F.C. Nielsen, R. Norvilas, E. Olah, A. Osorio, L. Papi, B. Peissel, A. Peixoto, D. Plaseska-Karanfilska, T. Pócza, M. Rossing, V. Rudaitis, M. Santamariña, C. Santos, S. Smichkoska, M.C. Southey, D. Stoppa-Lyonnet, M. Teixeira, T. Törngren, A. Toss, M. Urioste, A. Vega, Z. Vlckova, D. Yannoukakos, V. Zampiga, Z. Kleibl, P. Radice, H. Nevanlinna, H. Ehrencrona, R. Janavicius, P. Peterlongo, ENIGMA Consortium

Research output: Contribution to journalArticlepeer-review


Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2–4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases. © 2020 by the authors. Licensee MDPI, Basel, Switzerland.
Original languageEnglish
Issue number2
Publication statusPublished - 2020


  • Breast cancer predisposition
  • Breast cancer risk factors
  • FANCM truncating variants
  • Mutation spectrum
  • PTVs
  • adult
  • aged
  • Article
  • controlled study
  • Czech Republic
  • Denmark
  • estrogen receptor negative breast cancer
  • estrogen receptor positive breast cancer
  • FANCM gene
  • female
  • Finland
  • France
  • gene
  • gene frequency
  • gene sequence
  • genetic association
  • genetic variability
  • Greece
  • human
  • Hungary
  • Lithuania
  • major clinical study
  • middle aged
  • Poland
  • Portugal
  • protein truncating variant
  • Spain
  • Sweden
  • tumor suppressor gene
  • very elderly


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