Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Aug 30;21(1):975.
doi: 10.1186/s12885-021-08718-3.

Genetic predisposition to male breast cancer in Poland

Marek Szwiec  1 , Joanna Tomiczek-Szwiec  2 , Wojciech Kluźniak  3 , Dominika Wokołorczyk  3 , Karolina Osowiecka  4 , Robert Sibilski  5 , Małgorzata Wachowiak  6 , Jacek Gronwald  3 , Helena Gronwald  7 , Jan Lubiński  3 , Cezary Cybulski  3 , Steven A Narod  8   9 , Tomasz Huzarski  3   10
Affiliations

Genetic predisposition to male breast cancer in Poland

Marek Szwiec et al. BMC Cancer. .

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.

Keywords: BRCA1; BRCA2; CHEK2; Male breast cancer; Mutation; NBN; PALB2; RECQL.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

References

    1. Ly D, Forman D, Ferlay J, Brinton LA, Cook MB. An international comparison of male and female breast cancer incidence rates. Int J Cancer. 2013;132(8):1918–1926. doi: 10.1002/ijc.27841. - DOI - PMC - PubMed
    1. Couch FJ, Farid LM, DeShano ML, Tavtigian SV, Calzone K, Campeau L, et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet. 1996;13(1):123–125. doi: 10.1038/ng0596-123. - DOI - PubMed
    1. Ottini L, Silvestri V, Rizzolo P, Falchetti M, Zanna I, Saieva C, Masala G, Bianchi S, Manoukian S, Barile M, Peterlongo P, Varesco L, Tommasi S, Russo A, Giannini G, Cortesi L, Viel A, Montagna M, Radice P, Palli D. Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy. Breast Cancer Res Treat. 2012;134(1):411–418. doi: 10.1007/s10549-012-2062-0. - DOI - PubMed
    1. Sverdlov RS, Barshack I, Bar Sade RB, Baruch RG, Hirsh-Yehezkel G, Dagan E, Feinmesser M, Figer A, Friedman E. Genetic analyses of male breast cancer in Israel. Genet Test. 2000;4(3):313–317. doi: 10.1089/10906570050501579. - DOI - PubMed
    1. Wolpert N, Warner E, Seminsky MF, Futreal A, Narod SA. Prevalence of BRCA1 and BRCA2 mutations in male breast cancer patients in Canada. Clin Breast Cancer. 2000;1(1):57–63. doi: 10.3816/CBC.2000.n.005. - DOI - PubMed

MeSH terms

Substances