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BMC Cancer
Published in: BMC Cancer 1/2017

Open Access 01-12-2017 | Research article

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

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

Published in: BMC Cancer | Issue 1/2017

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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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Metadata
Title
CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population
Authors
Sanna Hallamies
Liisa M. Pelttari
Paula Poikonen-Saksela
Antti Jekunen
Arja Jukkola-Vuorinen
Päivi Auvinen
Carl Blomqvist
Kristiina Aittomäki
Johanna Mattson
Heli Nevanlinna
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2017
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/s12885-017-3631-8

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