2/14/2023 0 Comments Jt alert hrd 6![]() This observation led to the development of an HRD index based on these somatic genomic abnormalities that can be used to detect HRD implicated tumors rather than on the specific mutational spectrum at the nucleotide level of the altered the DNA sequence 2, 3, 4, 5. Tumor genomes of patients with BRCA1/2 inactivation were found to be enriched in copy number losses and rearrangements. ![]() In this tumor suppressor model of BCSG function, as a nascent tumor cell loses the ability to repair DNA, lesions accumulate, including in genes favoring tumor progression 1. In BC cases due to known BCSGs, the inherited pathogenic variant confers genetic susceptibility, but tumorigenesis is usually driven by a somatic inactivating “second-hit” event resulting in loss of gene function, often via loss of heterozygosity (LOH) through deletion of the wild-type allele. We and others showed that tumor sequencing is a powerful tool to find genes or variants that cause HRD breast cancer.
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