Impact of BRCA1/2 Mutations on Non-Cancer Mortality
Author Information
Author(s): Mai Phuong L., Chatterjee Nilanjan, Hartge Patricia, Tucker Margaret, Brody Lawrence, Struewing Jeffery P., Wacholder Sholom
Primary Institution: National Cancer Institute
Hypothesis
What is the effect of BRCA1/2 mutations on non-cancer mortality risk?
Conclusion
BRCA1/2 mutations are associated with a reduction in life expectancy of approximately 4–6 years due to increased non-cancer mortality.
Supporting Evidence
- Female carriers had a life expectancy that was 6.8 years lower than non-carriers.
- Male mutation carriers had a life expectancy reduction of 3.7 years compared to non-carriers.
- An overall test showed a statistically significant association between BRCA1/2 mutations and increased non-cancer mortality.
Takeaway
People with BRCA1/2 mutations might live a bit shorter lives, even if they don't get cancer, compared to those without these mutations.
Methodology
The study used mortality data from relatives of genotyped participants to analyze the association between BRCA mutations and overall and non-cancer mortality.
Potential Biases
Potential bias from under-reporting of cancer diagnoses by participants could exaggerate mortality risk estimates.
Limitations
The study could not ascertain specific causes of death among relatives, and there may be bias due to under-reporting of cancer diagnoses.
Participant Demographics
Participants were primarily Ashkenazi Jews, with 120 carrying BRCA mutations.
Statistical Information
P-Value
0.024
Confidence Interval
95% CI: 1.2–10.5
Statistical Significance
p=0.024
Digital Object Identifier (DOI)
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