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, 04/12/2012

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.

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