BRCA2 Gene Mutations in Families with Breast and Stomach Cancers
Author Information
Author(s): Jakubowska A, Nej K, Huzarski T, Scott R J, Lubiński J
Primary Institution: Pomeranian Academy of Medicine
Hypothesis
Are BRCA2 gene mutations associated with familial aggregations of breast and stomach cancers?
Conclusion
BRCA2 gene mutations are confirmed to be associated with familial aggregations of both breast and stomach cancer.
Supporting Evidence
- 20.7% of the families studied had BRCA2 mutations.
- Three frameshift mutations and three potential missense mutations were identified.
- Stomach cancer is significantly over-represented in BRCA2 mutation carriers.
Takeaway
This study found that some families with breast and stomach cancers have changes in the BRCA2 gene, which might make them more likely to get these cancers.
Methodology
Direct sequencing of the BRCA2 gene was performed on 29 families with specific cancer histories.
Potential Biases
Potential bias due to incomplete family histories and the small sample size.
Limitations
The study could not obtain mutation data from stomach cancer patients who had already passed away.
Participant Demographics
Families with at least one female breast cancer diagnosed before age 50 and one male stomach cancer diagnosed before age 55.
Statistical Information
P-Value
p<0.001
Confidence Interval
95% CI for SIRs calculated
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
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