TY - JOUR

T1 - CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.

AU - Margolin, Sara

AU - Eiberg, Hans

AU - Lindblom, Annika

AU - Bisgaard, Marie Luise

N1 - Keywords: Adult; Age Distribution; Age of Onset; Aged; Breast Neoplasms; Case-Control Studies; Cohort Studies; Female; Genetic Predisposition to Disease; Humans; Middle Aged; Mutation; Prevalence; Protein-Serine-Threonine Kinases; Sweden

PY - 2007

Y1 - 2007

N2 - 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

AB - 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

U2 - 10.1186/1471-2407-7-163

DO - 10.1186/1471-2407-7-163

M3 - Journal article

C2 - 17705858

VL - 7

SP - 163

JO - B M C Cancer

JF - B M C Cancer

SN - 1471-2407

ER -