APC I1307K Mutation and Breast/Ovarian Cancer
Author Information
Author(s): Gershoni-Baruch R, Patael Y, Dagan, Figer A, Kasinetz L, Kadouri E, Sade R Bruchim Bar, Friedman E
Primary Institution: Rambam Medical Center, Haifa, Israel
Hypothesis
Is the APC I1307K mutation associated with hereditary and sporadic breast and ovarian cancer?
Conclusion
The I1307K allele is more common in BRCA1/2 carriers but does not increase cancer risk.
Supporting Evidence
- The I1307K allele was found in 4.6% of sporadic cases and 7% of hereditary cases.
- The prevalence of the I1307K allele was significantly higher in BRCA1/2 carriers compared to non-carriers.
Takeaway
This study looked at a gene mutation in women with breast and ovarian cancer and found it doesn't make them more likely to get cancer.
Methodology
The study examined the frequency of the APC I1307K mutation in various groups of Ashkenazi women.
Limitations
The study may not be generalizable beyond Ashkenazi women.
Participant Demographics
996 Ashkenazi women, including those with sporadic and hereditary breast/ovarian cancer, BRCA1/2 mutation carriers, and healthy controls.
Statistical Information
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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