Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohort

Large genomic rearrangements (LGRs) account for at least 10% of the mutations in BRCA1 and 5% of BRCA2 mutations in outbred families with hereditary breast and ovarian cancer. A total of 21 probands with breast cancer who carried BRCA1 or BRCA2 LGRs were identified from a cohort of 4678 Chinese patients. There was a total of 13 BRCA1 LGR carriers and 8 BRCA2 LGR carriers, including 12 large genomic deletions and 1 duplication. Ten and three specific breakpoints from BRCA1 and BRCA2, respectively, were identified by either whole-genome sequencing by nanopore sequencing or long-range PCR.