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RESEARCH PRODUCT

Genetic predisposition to male breast cancer in Poland

Helena GronwaldMarek SzwiecJan LubinskiR. SibilskiJoanna Tomiczek-szwiecWojciech KluźniakCezary CybulskiDominika WokołorczykTomasz HuzarskiTomasz HuzarskiSteven A. NarodSteven A. NarodJacek GronwaldKarolina OsowieckaMałgorzata Wachowiak

subject

OncologyAdultMaleCancer Researchmedicine.medical_specialtyendocrine system diseasesPALB2medicine.disease_causeBreast Neoplasms MaleBreast cancerSurgical oncologyInternal medicineNBNGeneticsmedicineGenetic predispositionBiomarkers TumorHumansGenetic Predisposition to DiseaseAlleleskin and connective tissue diseasesCHEK2RC254-282CHEK2AgedRetrospective StudiesAged 80 and overMutationbusiness.industryCarcinoma Ductal BreastNeoplasms. Tumors. Oncology. Including cancer and carcinogensMiddle Agedmedicine.diseasePrognosisBRCA1BRCA2Male breast cancerRECQLCarcinoma LobularOncologyMale breast cancerCase-Control StudiesPALB2MutationPolandbusinessFollow-Up StudiesResearch Article

description

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.

10.1186/s12885-021-08718-3https://bmccancer.biomedcentral.com/articles/10.1186/s12885-021-08718-3