Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition
Breast Cancer Research and Treatment, 04/13/2012
Rouleau E et al. – The study demonstrates the usefulness of CGH–array in routine genetic analysis and, aside from the CHEK2 rearrangements, indicates there is a very low incidence of large rearrangements in BRCA1/2 and in the other eight candidate genes in families already explored for BRCA1/2 mutations. Finally, next–generation sequencing should bring new information about point mutations in intronic and flanking regions and also medium size rearrangements.