In breast cancer, the genetic profiling of circulating cell-free DNA (cfDNA) from blood
plasma was shown to have good potential for clinical use. In contrast, only a few studies were performed investigating urinary cfDNA. In this pilot study, we analyzed plasma-derived and matching
urinary cfDNA samples obtained from 15 presurgical triple-negative breast cancer patients. We
used a targeted next-generation sequencing approach to identify and compare genetic alterations
in both body fluids. The cfDNA concentration was higher in urine compared to plasma, but there
was no significant correlation between matched samples. Bioinformatical analysis revealed a total of
3339 somatic breast-cancer-related variants (VAF ≥ 3%), whereof 1222 vs. 2117 variants were found
in plasma-derived vs. urinary cfDNA, respectively. Further, 431 shared variants were found in both
body fluids. Throughout the cohort, the recovery rate of plasma-derived mutations in matching
urinary cfDNA was 47% and even 63% for pathogenic variants only. The most frequently occurring
pathogenic and likely pathogenic mutated genes were NF1, CHEK2, KMT2C and PTEN in both
body fluids. Notably, a pathogenic CHEK2 (T519M) variant was found in all 30 samples. Taken
together, our results indicated that body fluids appear to be valuable sources bearing complementary
information regarding the genetic tumor profile.
| Identifer | oai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:88455 |
| Date | 05 December 2023 |
| Creators | Herzog, Henrike, Dogan, Senol, Aktas, Bahriye, Nel, Ivonne |
| Publisher | MDPI |
| Source Sets | Hochschulschriftenserver (HSSS) der SLUB Dresden |
| Language | English |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, doc-type:article, info:eu-repo/semantics/article, doc-type:Text |
| Rights | info:eu-repo/semantics/openAccess |
| Relation | 2072-6694, 10.3390/cancers14174101 |
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