Article
Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohort.
The Journal of molecular diagnostics : JMD - 1 Jan 2026
Kwong Ava, Ho Cecilia Y S, Leung Henry C M, Leung Amy W S, Au Chun Hang, Ma Edmond S K
Abstract excerpt
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...
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