However, where there were known or suspected pathogenic intronic variants close to the exons listed in the Breast Cancer Information Core Database (i.e. BRCA1 c.213-11T>G, BRCA1 c.5194-12G>A and BRCA2 c.426-12_8del5), the primers were moved further into the intron to enable the detection of these variants [18]. This evidence concerns the gene BRCA1 and breast cancer.