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

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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.


  • ENIGMA Consortium
  • GENESIS Study Collaborators
  • SWE-BRCA Group
  • Gisella Figlioli
  • Hans Ehrencrona
  • Paolo Peterlongo
External organisations
  • QIMR Berghofer Medical Research Institute
  • PSL University
  • Lund University
  • IFOM - The FIRC Institute of Molecular Oncology
  • Region Skåne
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology


  • Breast cancer predisposition, Breast cancer risk factors, FANCM truncating variants, Mutation spectrum, PTVs
Original languageEnglish
Article number292
Issue number2
Publication statusPublished - 2020 Feb
Publication categoryResearch