Germline mutations in the BRCA1 and BRCA2 genes are associated with hereditary 
predisposition to breast and ovarian cancer. Sensitive and accurate detection of 
BRCA1 and BRCA2 mutations is crucial for personalized clinical management of 
individuals affected by breast or ovarian cancer, and for the identification of 
at-risk healthy relatives. We performed molecular analysis of the BRCA1 and 
BRCA2 genes in 898 Greek families, using Sanger sequencing or Next Generation 
Sequencing for the detection of small insertion/deletion frameshift, 
nonsynonymous, truncating and splice-site alterations and MLPA for the detection 
of large genomic rearrangements. In total, a pathogenic mutation was identified 
in 12.9% of 898 families analyzed. Of the 116 mutations identified in total 9% 
were novel and 14.7% were large genomic rearrangements. Our results indicate 
that different types of mutational events in the BRCA1 and BRCA2 genes are 
responsible for the hereditary component of breast/ovarian cancer in the Greek 
population. Therefore the methodology used in the analysis of Greek patients 
must be able to detect both point and small frameshift mutations in addition to 
large genomic rearrangements across the entire coding region of the two genes.