Pathogenic mutations in BRCA1 are associated with an increased risk of hereditary breast, ovarian, and some other cancers; however, the clinical significance of many mutations in this gene rema
Heterozygous germline mutations in BRCA1 or BRCA2 predispose to breast, ovarian, as well as other cancers. The main physiological function of BRCA1 and BRCA2 is to facilitate DNA replication, by stabi
Table S1 Summary of control (K01 to K05) and patient (P01 to P33) samples used for comparison of the performance of targeted capture-based NGS to multiplex PCR-based NGS. (XLSX 11 kb)
VUS: variant of uncertain significance; nd: non described. aAccording to reference sequences NG_005905.2 or NG_012772.1, except for BRCA1 exon1-13del, since it does not extend far enough upstream to d
