Update on the Manchester Scoring System for BRCA1 and BRCA2 testing

We recently published a new scoring system to estimate the chance of identifying mutations in the BRCA1 and BRCA2 genes (table 1).1 A potential criticism of the original paper was that not all cases were fully screened for mutations in both BRCA1 and BRCA2 . We have now extended our analyses to address this. In total, we have screened 921 samples from familial breast cancer pedigrees from the Manchester region through the whole coding sequence and intron/exons boundaries of both genes. In addition, 200 cases, with all cases …