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BMC Cancer. 2007 Aug 17;7:163.

CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.

Author information

1
Department of Oncology, Karolinska University Hospital at Södersjukhuset, Stockholm, Sweden. sara.margolin@karolinska.se

Abstract

BACKGROUND:

A truncating variant, 1100delC, in check point-kinase CHEK2, has been identified as a risk factor for familial and sporadic breast cancer. The prevalence in healthy non-breast cancer cases is low and varies between populations.

METHODS:

We analyzed the prevalence of CHEK2 1100delC in 763 breast cancer patients with a defined family history and 760 controls from the Stockholm region. The breast cancer patients originated from; a population-based cohort (n = 452) and from a familial cancer clinic (n = 311), the detailed family history was known in both groups.

RESULTS:

The variant was found in 2.9% of the familial cases from the population-based cohort and in 1.9% from the familial cancer clinic. In total 2.2% of the patients with a family history of breast cancer carried the variant compared to 0.7% of the controls (p = 0.03). There was no increased prevalence in sporadic patients (0.3%). The variant was most frequent in young familial patients (5.1% of cases <or=45 years, p = 0.003). The mean age at diagnosis of variant carriers was 12 years lower than in non-carriers (p = 0.001).

CONCLUSION:

In conclusion, CHEK2 1100delC exists in the Swedish population. The prevalence is increased in familial breast cancer and the variant seems to influence age at onset.

PMID:
17705858
PMCID:
PMC1994956
DOI:
10.1186/1471-2407-7-163
[Indexed for MEDLINE]
Free PMC Article

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