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. 2026 Aug 1;14(8):1742. doi: 10.3390/biomedicines14081742
ACMG American College of Medical Genetics and Genomics
AMP Association for Molecular Pathology
ASCO American Society of Clinical Oncology
BC Breast cancer
CI Confidence interval
CPSR Cancer Predisposition Sequencing Reporter
DNA Deoxyribonucleic acid
DSS Dataiku Data Science Studio
ER Estrogen receptor
FDA U.S. Food and Drug Administration
GenAI Generative artificial intelligence
GPV Germline pathogenic variant
HER2 Human epidermal growth factor receptor 2
HRD Homologous recombination deficiency
HRR Homologous recombination repair
IQR Interquartile range
LOH Loss of heterozygosity
LP Likely pathogenic
NGS Next-generation sequencing
P Pathogenic
PARP Poly(ADP-ribose) polymerase
PARPi Poly(ADP-ribose) polymerase inhibitor
PR Progesterone receptor
SD Standard deviation
SF Secondary findings
TNBC Triple-negative breast cancer
VUS Variant of uncertain significance
WES Whole-exome sequencing