Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
Recent multi‑omics analyses have identified USP28 as a key gene associated with breast cancer (PMID:35761863). In one study using TCGA and METABRIC datasets, USP28 was among 15 hub genes correlated with long‑term survival to breast cancer, based on differential network methods and expression analyses (PMID:35761863). A second study, which profiled a metastatic lobular breast tumor at single nucleotide resolution, reported recurrent somatic mutations in USP28 among other driver genes, with mutation frequencies in the range of 1–13% in the primary tumor (PMID:19812674).
The genetic evidence supports an association where somatic alterations in USP28 contribute to breast cancer tumorigenesis and may have prognostic utility. Although detailed family segregation data are not available, the recurrence of USP28 alterations in independent cohorts strengthens its role in disease pathology. The lack of a directly reported HGVS variant in the supplied evidence limits molecular characterization; however, the multi‑patient studies consistently highlight USP28 among relevant biomarkers in breast cancer.
Functional studies conducted in broader cancer contexts further reinforce the importance of USP28. Experiments in other tumor types have demonstrated that USP28 modulates important pathways, such as influencing TP53 activity, and underscores its regulatory capacity in oncogenic processes (PMID:37095494). Although specific functional assays in breast cancer remain limited, the experimental data lend additional support to the genetic findings by implicating USP28 in critical cancer-related signaling cascades.
In summary, the strong genetic evidence from independent multi‑patient studies combined with moderate functional corroboration from related cancer models supports USP28 as a significant biomarker in breast cancer. This multi‑layered evidence provides clinical utility for prognosis and for guiding potential therapeutic strategies.
Key Take‑home Message: USP28 is a robust marker in breast cancer whose recurrent alterations across independent datasets highlight its potential in diagnostic decision‑making and precision oncology.
Gene–Disease AssociationStrongRecurrent identification of USP28 in independent multi‑omics studies using large patient cohorts (PMID:35761863, PMID:19812674) supports a strong association with breast cancer. Genetic EvidenceStrongUSP28 was consistently identified as a hub gene with recurrent somatic mutations in breast cancer samples, contributing to its prognostic significance. Functional EvidenceModerateAlthough disease‑specific functional assays in breast cancer are limited, studies in other cancer models indicate that USP28 modulates key oncogenic pathways, including TP53 regulation (PMID:37095494). |