Screening for BRCA2 mutations in Dutch breast and ovarian cancer families
Author Information
Author(s): Peelen T, Vliet M van, Bosch A, Bignell G, Vasen H F A, Klijn J G M, Meijers-Heijboer H, Stratton M, Ommen G-J B van, Cornelisse C J, Devilee P
Primary Institution: Leiden University Medical Center
Hypothesis
Are there germline mutations in BRCA2 among families with a history of breast and/or ovarian cancer?
Conclusion
Large genomic rearrangements within the BRCA2 gene do not represent a major mutation mechanism among Dutch breast cancer families.
Supporting Evidence
- Four different frame-shifting mutations were detected in six families.
- Four families had positive linkage evidence for BRCA2.
- A non-sense and a splice-site mutation were found in two families.
- Fifteen families were found to have deletions in BRCA1.
Takeaway
The study looked at 81 families with breast and ovarian cancer to see if they had mutations in a gene called BRCA2, and found that these mutations are not common.
Methodology
The study used various mutation screening techniques, including protein truncation tests and Southern analysis.
Participant Demographics
Dutch families with a history of breast and/or ovarian cancer.
Digital Object Identifier (DOI)
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