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

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

doi:10.1186/s12885-017-3631-8

Abstract

BackgroundSeveral 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.MethodsIn 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.ResultsCHEK2 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.ConclusionsThese data suggest that the CHEK2 c.1100delC mutation is associated with an increased risk for MBC in the Finnish population.

Highlights

Several susceptibility genes have been established for female breast cancer, of which mutations in BRCA1 and especially in BRCA2 are known risk factors for male breast cancer (MBC)
The results indicated that a checkpoint kinase 2 (CHEK2) (p < 0.001) or a BRCA2 (p < 0.001) mutation may be associated with an elevated risk for a more aggressive type of prostate cancer
Forty-one patients had been tested for BRCA mutations, and of these, 2 (4.9%) were carriers of BRCA1 mutations and 3 (7.3%) carried a BRCA2 mutation

Summary

Introduction

Several susceptibility genes have been established for female breast cancer, of which mutations in BRCA1 and especially in BRCA2 are known risk factors for male breast cancer (MBC). In a previous study of Finnish MBC patients, the frequency of the c.1100delC mutation was similar to that seen in population controls [9] while in a Dutch and an American study, the frequency was significantly elevated [10, 11]. Another variant, the missense I157T (c.470T>C) in the FHA domain of CHEK2, is associated with a milder elevation in the risk and was observed in 7.4% of unselected female breast cancer patients, in 5.5% of familial patients, and in 5.3% of population controls [12]. In a recent study [13], the incidence of germline mutations in genes mediating DNA-repair processes among men with metastatic

Methods

Discussion

Conclusion