Table 3.

Summary of BRCA1 and BRCA2 mutations and variants

Family no.GeneDesignationEffect
Mutations1BRCA29017delAFrameshift
2BRCA25844del5Frameshift
7BRCA1IVS13-1G>ASplice site
10BRCA1943ins10Frameshift
Variants1BRCA1I379MMissense
5BRCA1I379MMissense
BRCA2I2944FMissense
6BRCA1R842WMissense