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Open Access 01-12-2021 | Breast Cancer | Research article

Genetic predisposition to male breast cancer in Poland

Authors: Marek Szwiec, Joanna Tomiczek-Szwiec, Wojciech Kluźniak, Dominika Wokołorczyk, Karolina Osowiecka, Robert Sibilski, Małgorzata Wachowiak, Jacek Gronwald, Helena Gronwald, Jan Lubiński, Cezary Cybulski, Steven A. Narod, Tomasz Huzarski

Published in: BMC Cancer | Issue 1/2021

Abstract

Background

Breast cancer in men accounts for fewer than 1 % of all breast cancer cases diagnosed in men and women. Genes which predispose to male breast cancer include BRCA1 and BRCA2. The role of other genes is less clear. In Poland, 20 founder mutations in BRCA1, BRCA2, CHEK2, PALB2, NBN, RECQL are responsible for the majority of hereditary breast cancer cases in women, but the utility this genes panel has not been tested in men.

Methods

We estimated the prevalence of 20 alleles in six genes (BRCA1, BRCA2, CHEK2, PALB2, NBN, RECQL) in 165 Polish male breast cancer patients. We compared the frequency of selected variants in male breast cancer cases and controls.

Results

One of the 20 mutations was seen in 22 of 165 cases (13.3%). Only one BRCA1 mutation and two BRCA2 mutations were found. We observed statistically significant associations for PALB2 and CHEK2 truncating mutations. A PALB2 mutation was detected in four cases (OR = 11.66; p < 0.001). A CHEK2 truncating mutation was detected in five cases (OR = 2.93;p = 0.02).

Conclusion

In conclusion, we recommend that a molecular test for BRCA1, BRCA2, PALB2 and CHEK2 recurrent mutations should be offered to male breast cancer patients in Poland.

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Title: Genetic predisposition to male breast cancer in Poland
Authors: Marek Szwiec
Joanna Tomiczek-Szwiec
Wojciech Kluźniak
Dominika Wokołorczyk
Karolina Osowiecka
Robert Sibilski
Małgorzata Wachowiak
Jacek Gronwald
Helena Gronwald
Jan Lubiński
Cezary Cybulski
Steven A. Narod
Tomasz Huzarski
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Breast Cancer
Breast Cancer
Published in: BMC Cancer / Issue 1/2021
Electronic ISSN: 1471-2407
DOI: https://doi.org/10.1186/s12885-021-08718-3

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