Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers
2000

APC I1307K Mutation and Breast/Ovarian Cancer

Sample size: 996 publication Evidence: moderate

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)

10.1054/bjoc.2000.1248

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