title: CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.
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).
  
  
  CONCLUSIONS
  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.
authors: Department of Oncology, Karolinska University Hospital at Södersjukhuset, Stockholm, Sweden. sara.margolin@karolinska.se
authors: Sara
authors: S
authors: Margolin
authors: Hans
authors: H
authors: Eiberg
authors: Annika
authors: A
authors: Lindblom
authors: Marie Luise
authors: ML
authors: Bisgaard
mesh_terms: D000328:Adult; D017677:Age Distribution; D017668:Age of Onset; D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D016022:Case-Control Studies; D064447:Checkpoint Kinase 2; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013548:Sweden / Q000453:epidemiology
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases
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