AI Article Synopsis
- A study investigated the presence of harmful mutations in 13 genes related to homologous recombination repair (HRR) across various solid tumors, utilizing data from a large clinico-genomic database.
- Out of nearly 9,500 tumor samples, 4.7% showed known or suspected deleterious mutations, with HRR mutations found in 13.6% of the cases.
- The study also noted significant differences in mutation prevalence based on the specific type of tumor, with a notable 20.6% exhibiting substantial loss of heterozygosity.
Article Abstract
To determine the prevalence of deleterious mutations in and and in 13 genes involved in homologous recombination repair (HRR), the prevalence of genomic loss of heterozygosity and the allelic and hereditary status of , and other HRR gene mutations in multiple solid tumor types. This was a retrospective observational study of patients with an advanced/metastatic diagnosis in one of 15 solid tumor types, who were identified in a real-world clinico-genomic database. Tumor tissue samples from 9457 patients were analyzed, among which 4.7% had known or suspected deleterious mutations. The prevalence (range) of mutations in HRR genes was 13.6% (2.4%-26.0%) and genomic loss of heterozygosity ≥16% was 20.6% (2.6-34.4%) across all tumor types. The prevalence of mutations varied significantly depending on the type of tumor.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520556 | PMC |
| http://dx.doi.org/10.1080/14796694.2024.2367957 | DOI Listing |
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