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Germline BRCA2 mutations in men with breast cancer
E Mavraki1, I C Gray, D T Bishop
1Imperial Cancer Research Fund, Genetic Epidemiology, St James's Hospital, Leeds, UK.
British Journal of Cancer
|January 1, 1997
Summary
Male breast cancer is rare and can be inherited. Genetic testing of 28 male patients identified BRCA2 mutations, including one frameshift mutation found at a high frequency in Icelandic male breast cancer cases.
Area of Science:
- Oncology
- Genetics
Background:
- Male breast cancer is a rare condition.
- A significant proportion of male breast cancer cases are linked to inherited genetic predispositions.
- The BRCA2 gene is implicated in the development of various cancers, including male breast cancer.
Purpose of the Study:
- To investigate the prevalence of BRCA2 mutations in male breast cancer patients.
- To identify specific BRCA2 mutations associated with male breast cancer.
- To explore the potential role of a specific BRCA2 mutation in Icelandic male breast cancer cases.
Main Methods:
- Genetic analysis of 28 male breast cancer patients.
- Screening for mutations in the BRCA2 gene.
- Mutation identification and characterization.
Main Results:
- Two frameshift mutations and one missense mutation in the BRCA2 gene were identified in the cohort.
- One identified frameshift mutation was located at the same position as a previously identified mutation strongly associated with male breast cancer in Iceland.
- This specific mutation is estimated to account for 40% of male breast cancer cases in Iceland.
Conclusions:
- BRCA2 mutations are present in male breast cancer patients.
- Specific BRCA2 mutations, such as the one identified in Icelandic males, may play a significant role in the etiology of male breast cancer.
- Further research into inherited predispositions for male breast cancer is warranted.