CHEK2 1100delC in Swedish Early Onset Familial Breast Cancer
Author Information
Author(s): Sara Margolin, Hans Eiberg, Annika Lindblom, Marie Luise Bisgaard
Primary Institution: Karolinska University Hospital
Hypothesis
Is the CHEK2 1100delC variant prevalent in Swedish early onset familial breast cancer cases?
Conclusion
CHEK2 1100delC is more common in familial breast cancer cases in Sweden and may influence the age of diagnosis.
Supporting Evidence
- The variant was found in 2.2% of familial breast cancer patients compared to 0.7% of controls.
- The variant was most frequent in young familial patients, with 5.1% of cases aged 45 or younger carrying it.
- The mean age at diagnosis for variant carriers was significantly lower than for non-carriers.
Takeaway
A specific gene change called CHEK2 1100delC is found more often in families with breast cancer, and it might make people get cancer at a younger age.
Methodology
The study analyzed the prevalence of CHEK2 1100delC in 763 breast cancer patients with a family history and 760 controls.
Potential Biases
Potential selection bias due to the focus on familial cases.
Limitations
The study sample size is relatively small, and the results may not be generalizable to all populations.
Participant Demographics
Participants included 763 breast cancer patients with a defined family history and 760 controls from the Stockholm region.
Statistical Information
P-Value
0.03
Confidence Interval
95% CI 1.2–10.1
Statistical Significance
p = 0.03
Digital Object Identifier (DOI)
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