Year: 2004
Type: article
Study design: Observational Study
Abstract: INTRODUCTION: Truncation mutations in the BRCA1 gene cause a substantial increase in risk of breast cancer. However, these mutations are rare in the general population and account for little of the overall incidence of sporadic breast cancer. METHOD: We used whole-gene resequencing data to select haplotype tagging single nucleotide polymorphisms, and examined the association between common haplotypes of BRCA1 and breast cancer in a nested case-control study in the Nurses' Health Study (1323 cases and 1910 controls). RESULTS: One haplotype was associated with a slight increase in risk (odds ratio 1.18, 95% confidence interval 1.02-1.37). A significant interaction (P = 0.05) was seen between this haplotype, positive family history of breast cancer, and breast cancer risk. Although not statistically significant, similar interactions were observed with age at diagnosis and with menopausal status at diagnosis; risk tended to be higher among younger, pre-menopausal women. CONCLUSIONS: We have described a haplotype in the BRCA1 gene that was associated with an approximately 20% increase in risk of sporadic breast cancer in the general population. However, the functional variant(s) responsible for the association are unclear.
Source: Breast Cancer Research
DOI: 10.1186/bcr973
Authors: David G Cox, Peter Kraft, Susan E Hankinson, David J Hunter
Institutions: Harvard University, Brigham and Women's Hospital
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $4,190
Awards: G1263749471, G151562090, Cohort Study of Genetic Susceptibility to Breast Cancer, Biochemical Markers in the nurses' Health Study Cohort, G2750880407, Dietary and Hormonal Determinants of Cancer in Women, G459566519, G4666650047, Biochemical Markers in the Nurses? Health Study Cohort, G9000028950, G9000040187, G9000190097, Program for Training in Cancer Epidemiology
OpenAlex ID: W1904833537