Since the identification and cloning of BRCA1 in 1994, 1 and shortly thereafter of BRCA2, 2
genetic tests of germline DNA to identify pathogenic variants in genes linked to hereditary …

BRCA1 and BRCA2 are multi-functional proteins and key factors for maintaining genomic
stability through their roles in DNA double strand break repair by homologous …

The multifactorial likelihood analysis method has demonstrated utility for quantitative
assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data …

Pathogenic mutation in BRCA1 gene is one of the most penetrant genetic predispositions
towards cancer. Identification of the mutation provides important aspect in prevention and …

The PARP inhibitor (PARPi) olaparib is currently the drug of choice for serous ovarian
cancer (OC), especially in patients with homologous recombination (HR) repair deficiency …

Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance
(VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and …

While biallelic mutations in the PALB2 tumor suppressor cause Fanconi anemia subtype FA-
N, monoallelic mutations predispose to breast and familial pancreatic cancer. Although …

Mutations that introduce premature termination codons (PTCs) within protein-coding genes
are associated with incurable and severe genetic diseases. Many PTC-associated disorders …

Purpose BRCA1 pathogenic variant heterozygotes are at a substantially increased risk for
breast and ovarian cancer. The widespread uptake of testing has led to a significant …

Prior studies have suggested the existence of reduced penetrance pathogenic variants
(RPPVs) in BRCA1 and BRCA2 (BRCA) which pose challenges for patient counseling and …