GenBank reference sequences of NM_007294.3 and NM_000059.3 were used for BRCA1 and BRCA2 analysis, respectively. Mutation nomenclature was described according to Human Genome Variation Society [20]. Pathogenicity of the mutations was assessed using the following databases: the Breast Cancer Informatio...
Patients were identified by ICD-10 codes associated with hereditary disposition of malignancy (Z15.01, Z15.02, Z15.09, Z15.89, C50.919, Q99.8, C54.1). Patients with BRCA1 and BRCA2 pathogenic mutations with and without a personal history of cancer were included in this study; BRCA1/2 not ...
In Ashkenazi Jews (AJ), ~10% of BC and ~40% of OC are caused by variants in BRCA [3,4,5]. Among AJ, 1:40 is a carrier of one of three founder variants: BRCA1_185delAG, BRCA1_5382insC and BRCA2_6174delT [6,7,8], whereas other BRCA1/BRCA2 pathogenic variants are rare ...
Patients were identified by ICD-10 codes associated with hereditary disposition of malignancy (Z15.01, Z15.02, Z15.09, Z15.89, C50.919, Q99.8, C54.1). Inclusion criteria were patients with BRCA1 and BRCA2 pathogenic mutations who underwent genetic testing between 2009-2018. Patients with unknown...