BRCA1 and BRCA2 Mutations in Bilateral Breast Cancer Patients
Author Information
Author(s): Steinmann D, Bremer M, Rades D, Skawran B, Siebrands C, Karstens J H, Dörk T
Primary Institution: Medical School Hannover, Hannover, Germany
Hypothesis
BRCA1 and BRCA2 mutations are more frequent in patients with bilateral breast cancer.
Conclusion
The study found no significantly increased prevalence of BRCA1 and BRCA2 mutations in patients with bilateral breast cancer compared to those with unilateral breast cancer.
Supporting Evidence
- Five frameshift deletions were identified in patients with bilateral disease.
- No further mutations were found apart from polymorphisms and rare unclassified variants.
- Three pathogenic BRCA1 mutations were identified in the group of patients with unilateral breast cancer.
- The frequencies of common BRCA1 and BRCA2 missense variants were not different between the two groups.
Takeaway
The study looked at patients with breast cancer and found that having cancer in both breasts doesn't mean you have more gene mutations than those with cancer in just one breast.
Methodology
The study investigated 75 patients with bilateral breast cancer and 75 matched patients with unilateral breast cancer for BRCA1 and BRCA2 mutations.
Limitations
The study was limited to a hospital-based cohort and may not represent the general population.
Participant Demographics
Patients were from Germany and were matched by age and family history.
Digital Object Identifier (DOI)
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