Figure 1

Rare germline copy number variations detected in three unrelated breast cancer patients. (A) to (C) Top panels exhibit the array comparative genomic hybridization profiles of the chromosome regions (images based on the Genomic Workbench software) containing the selected copy number variation (CNV) (left) and the copy number of the corresponding sequences assessed by quantitative PCR in patients 3, 13 and 27 and control individuals (right). Bottom panels show the CNV positions in the chromosomes (small vertical red bars in the ideograms) and the corresponding genomic segments. The encompassed genes according to the Reference Sequence (RefSeq) collection are indicated by blue lines in the RefSeq genes track, and the CNVs loci reported in the general population are indicated by the blue (gain) and red (loss) bars in the Database of Genomic Variants (DGV) Struct Var track (data retrieved from the DGV) (images derived from the UCSC Genome Browser, freeze October 2011). Part (A) shows microdeletion at 1p31.1 of a 540 kb genomic segment containing the sequences of three genes. This alteration cosegregated with early-onset breast cancer in patient 3 and her sister. Part (B) shows microdeletion at 9p21.3 of a 137 kb genomic segment encompassing the gene KIA1797 and the microRNA MIR491 (patient 13). Part (C) shows microduplication at Xq13.1 of a 640 kb genomic segment affecting the FAM155B and EDA genes (patient 27).