CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.
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CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer. / Margolin, Sara; Eiberg, Hans; Lindblom, Annika; Bisgaard, Marie Luise.
I: BMC Cancer, Bind 7, 2007, s. 163.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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 -
ID: 6338475