Cancer Risks for BRCA1 and BRCA2 Mutation Carriers
Author Information
Author(s): Evans D Gareth, Shenton Andrew, Woodward Emma, Lalloo Fiona, Howell Anthony, Maher Eamonn R
Primary Institution: Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital Manchester
Hypothesis
What are the cancer risks for women with BRCA1 and BRCA2 mutations in high-risk families?
Conclusion
Women who test positive for BRCA1 or BRCA2 mutations in high-risk families have significant cumulative breast and ovarian cancer risks.
Supporting Evidence
- Breast cancer penetrance for BRCA1 was 68% by age 70.
- Ovarian cancer risk for BRCA1 was 60% by age 70.
- Women born after 1940 had a cumulative breast cancer risk of 22% by age 40.
Takeaway
If a woman has a family history of breast or ovarian cancer and tests positive for a BRCA mutation, she has a high chance of getting those cancers.
Methodology
The study reviewed 385 families with BRCA1 and BRCA2 mutations and estimated cancer risks based on genetic testing.
Potential Biases
Potential bias from women having prior knowledge of their mutation status before testing.
Limitations
The study may have biases related to family ascertainment and the effects of modifier genes were not fully accounted for.
Participant Demographics
The study included women from high-risk families with BRCA1 and BRCA2 mutations.
Statistical Information
P-Value
p = 0.0005
Confidence Interval
95%CI 64.7–71.3% for BRCA1 breast cancer risk
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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