Genetic predisposition to male breast cancer in Poland

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

doi:10.1186/s12885-021-08718-3

Abstract

BackgroundBreast 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.MethodsWe 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.ResultsOne 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).ConclusionIn 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.

Highlights

Breast cancer in men accounts for fewer than 1 % of all breast cancer cases diagnosed in men and women
We evaluated the frequency of 20 recurrent mutations in six genes (BRCA1, breast cancer 2 gene (BRCA2), checkpoint kinase 2 gene (CHEK2), partner and localizer of BRCA2 gene (PALB2), Nijmegen breakage syndrome gene (NBN) and RecQ protein-like gene (RECQL)) in 165 men diagnosed with breast cancer in Poland
The majority of cases were diagnosed with ductal carcinoma (89.6% of cases), followed by lobular (4.2% of cases) and papillary cancer (3.7% of cases). 91.4% were estrogen receptor (ER) positive and 82.7% were progesterone receptor (PR) positive

Summary

Introduction

Breast cancer in men accounts for fewer than 1 % of all breast cancer cases diagnosed in men and women. 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. The prevalence of BRCA2 mutations in men with breast cancer ranges from 4 to 40% in different populations [5,6,7,8,9,10,11,12,13]. The risk of male breast cancer in carriers of PALB2 mutations is increased by approximately 7- fold [12, 16, 19, 21, 23,24,25,26]. The common truncating allele of CHEK2 (1100delC) was associated with a 4.5-fold increased risk of the male breast cancer in the Scandinavian population [22]

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Conclusion