Genetic Variation In BRCA1 and BRCA2:
Classifying the Unclassified Variants Found in the Dutch Population

The information provided on this web-site may be used to determine whether a genetic variant in BRCA1 or BRCA2 confers elevated risks to breast- and/or ovarian cancer. This is done by combining information from different sources relating to, among others, evolutionary conservation of the amino acid residues, co-segregation with disease, population genetics, etc. Also provided here are relevant data from published literature. None of these parameters are conclusive on their own, which precludes definitive statements on whether or not an unclassified variant is pathogenic. Hence, the data can at best provide supportive evidence for a presumed pathogenicity, and cannot, at this point in time, be used for clinical diagnostic purposes. This web-site is continually being updated by Maaike Vreeswijk and Peter Devilee (Centre for Human & Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands).

General information

• True pathogenic changes in BRCA1 and BRCA2
• Unclassified variants in BRCA1 and BRCA2
• Polymorphisms in BRCA1 and BRCA2
• Evolutionary conservation in BRCA1 and BRCA2
• Structural & functional domains in BRCA1 and BRCA2
• Published functional data on unclassified variants
• Literature on unclassified variants and missense changes

Individual reports on unclassified variants