CHEK21100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies

Previous studies of families with multiple cases of breast cancer have indicated that a frameshift alteration in the CHEK2 gene, 1100delC, is associated with an elevated frequency of breast cancer in such families, but the risk associated with the variant in other situations is uncertain. To evaluat...

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Bibliographic Details
Published in:American journal of human genetics 2004-06, Vol.74 (6), p.1175-1182
Format: Article
Language:English
Subjects:
Adult
Aged
Biological and medical sciences
Breast Neoplasms - diagnosis
Breast Neoplasms - epidemiology
Breast Neoplasms - genetics
Case-Control Studies
Checkpoint Kinase 2
Female
Gene Expression Regulation, Neoplastic
Genetic Predisposition to Disease
Genetics, Population
Genotype
Gynecology. Andrology. Obstetrics
Humans
Mammary gland diseases
Medical sciences
Middle Aged
Odds Ratio
Protein-Serine-Threonine Kinases - genetics
Risk Factors
Sequence Deletion
Tumors
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Summary:Previous studies of families with multiple cases of breast cancer have indicated that a frameshift alteration in the CHEK2 gene, 1100delC, is associated with an elevated frequency of breast cancer in such families, but the risk associated with the variant in other situations is uncertain. To evaluate the breast cancer risk associated with this variant, 10,860 breast cancer cases and 9,065 controls from 10 case-control studies in five countries were genotyped. CHEK2*1100delC was found in 201 cases (1.9%) and 64 controls (0.7%) (estimated odds ratio 2.34; 95% CI 1.72–3.20; P=.0000001). There was some evidence of a higher prevalence of CHEK2*1100delC among cases with a first-degree relative affected with breast cancer (odds ratio 1.44; 95% CI 0.93–2.23; P=.10) and of a trend for a higher breast cancer odds ratio at younger ages at diagnosis ( P=.002). These results confirm that CHEK2*1100delC confers an increased risk of breast cancer and that this risk is apparent in women unselected for family history. The results are consistent with the hypothesis that CHEK2*1100delC multiplies the risks associated with susceptibility alleles in other genes to increase the risk of breast cancer.
ISSN:0002-9297
1537-6605
DOI:10.1086/421251