Linkage Disequilibrium Mapping of CHEK2: Common Variation and Breast Cancer Risk
2006

Common Variations in CHEK2 and Breast Cancer Risk

Sample size: 3150 publication 10 minutes Evidence: high

Author Information

Author(s): Einarsdóttir Kristjana, Humphreys Keith, Bonnard Carine, Palmgren Juni, Iles Mark M, Sjölander Arvid, Li Yuqing, Chia Kee Seng, Liu Edison T, Hall Per, Liu Jianjun, Wedrén Sara

Primary Institution: Karolinska Institutet

Hypothesis

Do common polymorphisms in the CHEK2 gene influence breast cancer risk?

Conclusion

Common polymorphisms in the CHEK2 gene do not influence postmenopausal breast cancer risk in Swedish women.

Supporting Evidence

  • The study genotyped six tagSNPs in 1,577 breast cancer cases and 1,513 controls.
  • Common haplotypes did not show a significant association with breast cancer risk.
  • The 1100delC mutation was rare in the population studied.

Takeaway

This study looked at whether common changes in a gene called CHEK2 affect the risk of getting breast cancer. It found that they don't.

Methodology

The study analyzed 14 common SNPs in the CHEK2 gene among 1,577 breast cancer cases and 1,513 controls.

Potential Biases

Nonparticipation was related to severe disease or death, which could introduce selection bias.

Limitations

The study may not be generalizable to populations outside of Northern Europe.

Participant Demographics

The study involved postmenopausal Swedish women.

Statistical Information

Confidence Interval

95% CI, 0.99–5.15

Digital Object Identifier (DOI)

10.1371/journal.pmed.0030168

Want to read the original?

Access the complete publication on the publisher's website

View Original Publication