A1 Refereed original research article in a scientific journal
CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population
Authors: Hallamies S, Pelttari LM, Poikonen-Saksela P, Jekunen A, Jukkola-Vuorinen A, Auvinen P, Blomqvist C, Aittomaki K, Mattson J, Nevanlinna H
Publisher: BIOMED CENTRAL LTD
Publication year: 2017
Journal: BMC Cancer
Journal name in source: BMC CANCER
Journal acronym: BMC CANCER
Article number: ARTN 620
Volume: 17
Number of pages: 5
ISSN: 1471-2407
DOI: https://doi.org/10.1186/s12885-017-3631-8
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/26619542
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.
Downloadable publication This is an electronic reprint of the original article. |  |
