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. 2022 Jul 5;14(13):3292. doi: 10.3390/cancers14133292
AAD age at first diagnosis
ACMG American College of Medical Genetics
BC breast cancer
CCG Cologne Center for Genomics
CI confidence interval
CNV copy number variation
ER estrogen receptor
ExAC Exome Aggregation Consortium
FH family history
GC-HBOC German Consortium for Hereditary Breast and Ovarian Cancer
HER2 human epidermal growth factor receptor 2
IARC International Agency for Research on Cancer
mBC male breast cancer
MLPA multiplex ligation-dependent probe amplification
NCCN National Comprehensive Cancer Network
NFE non-Finnish European
NGS next-generation sequencing
PR progesterone receptor
PTV protein-truncating variant
PV pathogenic variant
OC ovarian cancer
OR odds ratio
TCGA The Cancer Genome Atlas
VUS variant of uncertain significance