BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study
2007

BRIP1 Variants and Breast Cancer Risk

Sample size: 1283 publication Evidence: moderate

Author Information

Author(s): Frank Bernd, Hemminki Kari, Meindl Alfons, Wappenschmidt Barbara, Sutter Christian, Kiechle Marion, Bugert Peter, Schmutzler Rita K, Bartram Claus R, Burwinkel Barbara

Primary Institution: German Cancer Research Center, DKFZ, Heidelberg, Germany

Hypothesis

Do BRIP1 variants -64G>A and Pro919Ser affect familial breast cancer risk?

Conclusion

The study found no effect of the BRIP1 variants on the risk of familial breast cancer.

Supporting Evidence

  • The study included a large sample size of 1283 participants.
  • No significant differences in genotype frequencies were observed between breast cancer cases and controls.
  • The study cohort was homogeneous, comprising women selected for familial breast cancer.

Takeaway

The study looked at two gene changes to see if they make breast cancer more likely in families, but they didn't find any link.

Methodology

The study analyzed BRIP1 variants in 571 breast cancer patients and 712 controls using TaqMan allelic discrimination.

Limitations

The study did not test for gene-environment interactions due to lack of data on known risk factors.

Participant Demographics

571 unrelated German female index cases aged 19 to 87 years, and 712 healthy female controls aged 26 to 68 years.

Digital Object Identifier (DOI)

10.1186/1471-2407-7-83

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