BRCA1 Mutation Prevalence in Dutch Breast Cancer Patients
Author Information
Author(s): Papelard H, de Bock G H, van Eijk R, Vlieland T P M Vliet, Cornelisse C J, Devilee P, Tollenaar R A E M
Primary Institution: Leiden University Medical Center
Hypothesis
What is the prevalence of BRCA1 mutations in a hospital-based population of Dutch breast cancer patients?
Conclusion
The study found that the majority of BRCA1 mutations in the Dutch breast cancer population occur in women diagnosed under 50 years of age.
Supporting Evidence
- Ten protein truncating mutations were detected and one in-frame deletion with an unknown relation to disease risk.
- Four patients carried the Dutch founder deletion of exon 22.
- The estimated prevalence of breast cancer in the general population in the Netherlands attributable to BRCA1 mutations is 2.1%.
- Under 40 years-of-age, the prevalence is 9.5%, and under 50 years-of-age, it is 6.4%.
- All mutation carriers were under 50 years-of-age at diagnosis of the first breast cancer.
- Five mutation carriers did not have any relative with breast cancer.
Takeaway
This study looked at breast cancer patients in the Netherlands and found that many of them have a specific gene mutation called BRCA1, especially if they are younger than 50.
Methodology
Patients were tested for germline mutations in the BRCA1 gene using an assay that detects small deletions and insertions, as well as major genomic founder deletions.
Participant Demographics
Dutch breast cancer patients, not selected for family history or age at diagnosis.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website