Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons
2001
Screening for BRCA2 Mutations in Male Breast Cancer Families
Sample size: 41
publication
Evidence: moderate
Author Information
Author(s): Caux V, Stoppa-Lyonnet D, Tosi M
Primary Institution: Institut Curie
Hypothesis
The study aims to identify BRCA2 mutations in families with male breast cancer and breast-ovarian cancer.
Conclusion
The study found that BRCA2 mutations contribute to 10% of the breast-ovarian cancer families screened.
Supporting Evidence
- 7 out of 41 families screened had truncating BRCA2 mutations.
- 3 of the families with male breast cancer had BRCA2 mutations.
- The methods used had no bias for particular types of mutations.
Takeaway
Researchers looked for gene changes in families with male breast cancer and found some important mutations.
Methodology
The study used chemical cleavage of mismatch and Denaturing Gradient Gel Electrophoresis to identify mutations.
Participant Demographics
The study included families with male breast cancer and breast-ovarian cancer.
Statistical Information
Confidence Interval
95% CI 2.5–17.5
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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