BMC Cancer (Sep 2017)

CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population

  • Sanna Hallamies,
  • Liisa M. Pelttari,
  • Paula Poikonen-Saksela,
  • Antti Jekunen,
  • Arja Jukkola-Vuorinen,
  • Päivi Auvinen,
  • Carl Blomqvist,
  • Kristiina Aittomäki,
  • Johanna Mattson,
  • Heli Nevanlinna

DOI
https://doi.org/10.1186/s12885-017-3631-8
Journal volume & issue
Vol. 17, no. 1
pp. 1 – 5

Abstract

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Abstract Background Several susceptibility genes have been established for female breast cancer, of which mutations in BRCA1 and especially in BRCA2 are also known risk factors for male breast cancer (MBC). The role of other breast cancer genes in MBC is less well understood. Methods In this study, we have genotyped 68 MBC patients for the known breast or ovarian cancer associated mutations in the Finnish population in CHEK2, PALB2, RAD51C, RAD51D, and FANCM genes. Results CHEK2 c.1100delC mutation was found in 4 patients (5.9%), which is significantly more frequent than in the control population (OR: 4.47, 95% CI 1.51–13.18, p = 0.019). Four CHEK2 I157T variants were also detected, but the frequency did not significantly differ from population controls (p = 0.781). No RAD51C, RAD51D, PALB2, or FANCM mutations were found. Conclusions These data suggest that the CHEK2 c.1100delC mutation is associated with an increased risk for MBC in the Finnish population.

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