title: BRCA2 germline mutations in male breast cancer patients in the Polish population.
abstract: Breast cancer is a rare disease in men. Germ-line mutations in BRCA2 and androgen receptor (AR) genes are thought to be responsible for a proportion of male breast cancer cases. The present study was performed on a series of 37 consenting patients not selected for family history of breast/ovarian cancer. The entire coding region of the BRCA2 gene and two exons of the AR gene were analyzed for germ-line mutations to evaluate the association between BRCA2 and AR genes and male breast cancer in Poland. We identified four frameshift mutations (11%) in exons 10, 11, 17 and 18, two of them were novel: 6495del3insC and 8457insA. Three missense unclassified variants (8%) of the BRCA2 gene were also identified. The frequencies of missense alterations were examined in a set of 200 chromosomes. No alteration of the AR gene was found. We did not observe much difference in clinicopathological features between carriers and non-carriers of BRCA2 mutations. Five of 37 patients (14%) had a family history of breast cancer, in one first- or second-degree relative, among the latter was one mutation carrier. The results of this study suggest that germ-line BRCA2 mutations account for rather small proportion of male breast cancer in Poland.
authors.affiliation: Department of Cancer Immunology, University School of Medical Sciences and Great Poland Cancer Center, Poznan, Poland.
authors.forename: E
authors.initials: E
authors.lastname: Kwiatkowska
authors.forename: M
authors.initials: M
authors.lastname: Teresiak
authors.forename: K M
authors.initials: KM
authors.lastname: Lamperska
authors.forename: A
authors.initials: A
authors.lastname: Karczewska
authors.forename: D
authors.initials: D
authors.lastname: Breborowicz
authors.forename: M
authors.initials: M
authors.lastname: Stawicka
authors.forename: D
authors.initials: D
authors.lastname: Godlewski
authors.forename: W J
authors.initials: WJ
authors.lastname: Krzyzosiak
authors.forename: A
authors.initials: A
authors.lastname: Mackiewicz
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D024682:BRCA2 Protein; D018567:Breast Neoplasms, Male / Q000453:epidemiology / Q000235:genetics*; D016368:Frameshift Mutation; D016147:Genes, Tumor Suppressor / Q000235:genetics; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics*; D011044:Poland / Q000453:epidemiology; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors