BRCA1 and ovarian carcinoma: Genome-wide CNV analysis was performed on 2319 individuals with pathogenic BRCA1 pathogenic variants, including 1202 breast cancer cases (1117 non-breast cancer affected) and 357 ovarian cancer cases (1962 non-ovarian cancer affected), using published genotype data from Illumina 610K SNP arrays.14 A total of 60 893 CNVs were called across the study participants using four different algorithms (PennCNV, QuantiSNP, GNOSIS and CNVPartition) that passed the data quality threshold (see Methods and Materials).