The Journal of molecular diagnostics : JMDHumansFemaleBRCA2 ProteinBRCA1 ProteinGene Rearrangement
Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohort.
Ava Kwong, Cecilia Y S Ho, Henry C M Leung, Amy W S Leung, Chun Hang Au, Edmond S K Ma
Published: 202610.1016/j.jmoldx.2025.09.005
Abstract
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…
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