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Title: Genetic studies in male breast cancer
Author: Young, Ian E.
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 2003
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INTRODUCTION: Male breast cancer is a rare disease, accounting for about 0.5% of the total number of breast cancer cases in Scotland. Less is therefore known about the potential genetic influences in its development than for female breast cancer. A number of previous studies have found mutations of the androgen receptor gene and the BRCA2 gene in male breast cancer cases. Polymorphisms in the CYP17, CYP19 and estrogen receptor genes have been associated with an increased risk of female breast cancer. METHODS: DNA was obtained from 64 male breast cancer cases treated in the Department of Clinical Oncology, Western General Hospital, Edinburgh between 1974 and 1998. The DNA was screened for mutations in the entire BRCA2 gene. Frequencies of polymorphisms in the androgen receptor gene, CYP17, CYP19 and estrogen receptor genes were studied in the 64 cases and in a control population. Family pedigrees for the 64 cases were constructed where possible. Clinical data were retrieved from hospital casenotes. RESULTS/CONCLUSIONS: Germline BRCA2 mutations were identified in 12 of the 64 (19%) male breast cancer cases. This is an appreciably higher proportion than previously recorded for U.K. populations. A polymorphism in exon 2 of BRCA2 was found significantly more frequently in male breast cancer patients than in controls. The effects of this polymorphism, particularly upon gene expression, require further evaluation. BRCA2 mutations in male breast cancer are not necessarily associated with a positive family history of breast cancer, although half of our series did have affected relatives. In four additional cases, a positive family history was found despite absence of a demonstrable BRCA2 mutation. From the family pedigrees, breast cancer penetrance for the BRCA2 mutations detected as a whole in females by age 73, is estimated at about 62%. There were no significant differences between the male breast cancer patients found to carry germline BRCA2 mutations compared to those without mutations, in terms of mean age at diagnosis, histological classification of tumours, disease stage at presentation, or survival. Polymorphic alleles of the CYP17 gene and exon 2 of the estrogen receptor gene are found significantly more frequently in male breast cancer patients than in controls. There were no significant differences in the distribution of alleles of the androgen receptor gene or CYP19 gene between male breast cancer patients and controls.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (M.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available