Frequency of CHEK2*1100delC in New York breast cancer cases and controls Journal Article


Authors: Offit, K.; Pierce, H.; Kirchhoff, T.; Kolachana, P.; Rapaport, B.; Gregersen, P.; Johnson, S.; Yossepowitch, O.; Huang, H.; Satagopan, J.; Robson, M.; Scheuer, L.; Nafa, K.; Ellis, N.
Article Title: Frequency of CHEK2*1100delC in New York breast cancer cases and controls
Abstract: Background: The 1100delC CHEK2 allele has been associated with a 1.4-4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of 1100delC was 1.1-1.4% in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear. Methods: We genotyped 1665 healthy New York volunteers and 300 cases of breast cancer for the CHEK2*1100delC. Results: The overall frequency of the 1100delC was 3/300 (1.0%) among all cases with either a family history of breast cancer (n = 192) or a personal history of breast cancer (n = 108, of which 46 were bilateral, 46 unilateral, and 16 were male breast cancer cases), compared to a frequency of 5/1665 (0.3%) in healthy controls (p = 0.1). There was no difference in allele frequency among Ashkenazi and non-Ashkenazi controls. Conclusion: The relatively low breast cancer penetrance of this allele, along with the low population frequency, will limit the clinical applicability of germline testing for CHEK2*1100delC in North American kindreds. © 2003 Offit et al; licensee BioMed Central Ltd.
Keywords: controlled study; gene mutation; human cell; major clinical study; gene deletion; cancer risk; united states; genetic analysis; polymerase chain reaction; allele; breast cancer; genetic association; genotype; gene frequency; brca1 protein; brca2 protein; finland; germ line; family history; checkpoint kinase 2; high performance liquid chromatography; jew; north america; penetrance; human; male; female; article
Journal Title: BMC Medical Genetics
Volume: 4
ISSN: 1471-2350
Publisher: Biomed Central Ltd  
Date Published: 2003-01-15
Start Page: 1
Language: English
DOI: 10.1186/1471-2350-4-1
PROVIDER: scopus
PMCID: PMC149355
PUBMED: 12529183
DOI/URL:
Notes: Export Date: 12 September 2014 -- Source: Scopus
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MSK Authors
  1. Kenneth Offit
    527 Offit
  2. Khedoudja Nafa
    186 Nafa
  3. Jaya M Satagopan
    138 Satagopan
  4. Mark E Robson
    383 Robson
  5. Nathan A Ellis
    74 Ellis
  6. Helen Huang
    13 Huang
  7. Lauren   Scheuer
    18 Scheuer
  8. Heather H Pierce
    6 Pierce