BRCA1 and BRCA2 are two major genes associated with familial breast and ovarian 
cancer susceptibility. In Poland standard BRCA gene test is usually limited to 
Polish founder BRCA1 mutations: 5382insC, C61G and 4153delA. To date, just a few 
single large genomic rearrangements (LGRs) of BRCA1 gene have been reported in 
Poland. Here we report the first comprehensive analysis of large mutations in 
BRCA1 and BRCA2 genes in this country. We screened LGRs in BRCA1 and BRCA2 genes 
by multiplex ligation-dependent probe amplification in 200 unrelated patients 
with strong family history of breast/ovarian cancers and negative for BRCA1 
Polish founder mutations. We identified three different LGRs in BRCA1 gene: 
exons 13-19 deletion, exon 17 deletion and exon 22 deletion. No LGR was detected 
in BRCA2 genes. Overall, large rearrangements accounted for 3.7 % of all BRCA1 
mutation positive families in our population and 1.5 % in high-risk families 
negative for Polish founder mutation.